Sonographic Differential Diagnosis

of Fetal Cardiac Abnormalities

Sharon R. Weil and James C. Huhta
Ultrasonographic evaluation of the fetal heart for structural and functional abnormalities is vital for prenatal
diagnosis and perinatal management. Even more important than up-to-date diagnostic equipment is keen
observation and an understanding of fetal cardiac abnormalities. One diagnostic approach begins with the
four-chamber view with particular attention to the normal symmetric sizes of all four cardiac chambers. Ventricular
disproportion, inequality in ventricular size, is often an easily detectable sign of a cardiovascular abnormality.
Segmental diagnosis of cardiac and visceral situs, ventricular outflow tracts for conotruncal abnormalities and the
aortic and ductal arches is also vital for diagnosing affected fetuses.
Copyright 9 1993 by W.B. Saunders Company

LTRASOUND EXAMINATION of the

U human fetus is playing an ever increasing

role in obstetrical diagnosis and management.
Two-dimensional (2-D) imaging, M-mode, and
Doppler ultrasound methods have been improved markedly by technological advances in
ultrasound equipment. Both the screening ultrasound examination and the in-depth fetal echocardiogram play important roles in caring for
the fetus at risk for cardiovascular disease
(Table 1). 1-8 The normal fetal echocardiographic examination is discussed elsewhere in
this issue. It is presumed that an in-depth fetal
echocardiogram will incorporate the routine
views adapted from postnatal echocardiography.9 These include the following: (1) the abdominal transverse and sagittal views, which
establish abdominal and atrial situs; (2) the
transverse thoracic views, which assess cardiac
position, apex location, and the cardiothoracic
size ratios; (3) the four-chamber view which is
used to identify the atrial and ventricular locations, relationships, and relative sizes and also
to assess the atrial and ventricular septa and
atrioventricular valves; (4) the long- and shortaxis views of the right and left ventricular
outflow tracts; and (5) views of the aortic and
ductal arches. This article reviews important
abnormal findings that lead to more specific
diagnoses and suggests directed examinations
for special clinical situations.

From The Pennsylvania Hospital, Philadelphia, PA.

Address reprint requests to Sharon R. Weil, MD, Perinatal
Cardiology, Pennsylvania Hospital, 800 Spruce St, Philadelphia, PA 19107.
Copyright 9 1993 by W.B. Saunders Company
0887-2171/93/1404-000655. 00/0
298

DIFFERENTIAL DIAGNOSIS
OF ABNORMAL FINDINGS

Disproportion
Because of the normal right-to-left fetal shunts
through the foramen ovale and the ductus
arteriosus, the fetal ventricles work in parallel,
rather than in series. Thus, inability of one side
of the heart to handle normal blood flow (eg,
because of obstruction or abnormal chamber
filling) leads to redistribution of blood flow
through the contralateral chambers, resulting in
preserved "combined ventricular output." This
redistribution can be partially inferred from the
presence of chamber and vessel disproportion.~0,11

Ventricular disproportion: right greater than left.

Ventricular disproportion may be demonstrated best on a four-chamber view. A shortaxis view through the ventricles may support
this impression, and M-mode measurements
plotted on gestational age nomograms may
establish the abnormal dimensions. Some authors 12 propose using a ventricular dimension
ratio to identify patients with significant disproportion suggestive of structural heart disease.
Differentiating a large right ventricle with a
normal left ventricle from a right ventricle
enlarged to compensate for a small left ventricle
may be difficult.
A large right and a normal left ventricle may
result from dysrhythmias, pulmonary valve abnormalities, constriction or occlusion of the
ductus arteriosus, ventricular dysfunction, tricuspid regurgitation, or intrauterine growth retardation.
Fetal supraventricular tachydysrhythmias(eg,
supraventricular tachycardia or atrial flutter)
may result in disproportion or even enlarge-

Seminars in Ultrasound, CT, andMRI, Vo114, No 4 (August), 1993: pp 298-317

299

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

Table 1. Pregnancies at Increased Risk of Structural or
Functional Fetal Heart Disease

1. Maternal diabetes mellitus present in the first trimester

(risk of CHD)
2. Maternal gestational diabetes (risk of hypertrophy, but
routine surveillance is questionable)
3. Maternal systemic lupus erythematosis (risk of CHD or
heart block)
4. Teratogen exposure in the first trimester (risk of CHD)
5. Family history of congenital heart disease, particularly
in first-degree relatives (risk of CHD)
6. Suspicious heart appearance on obstetrical ultrasound,
which ideally includes four chamber and outflow-tract
views (often the group with the highest yield of CHD)
7. Dysrhythmia: slow, fast, irregular (risk of hydrops secondary to the rhythm as well as of CHD)
8. Prolonged or high dose maternal exposure to nonsteroidal anti-inflammatory drugs, such as aspirin, ibuprofen, indomethacin (risk of ductal constriction in the
third trimester)
9. Monochorionic twins discordant in weight or Doppler
(risk of twin-twin transfusion syndrome with hypertrophy, hypertension, and hydrops)
10. Nonimmune hydrops (risk of CHD or primary cardiac
dysfunction)
11. Extracardiac fetal anomalies (risk of CHD)
12. Chromosomal abnormality (risk of CHD)
13. Certain cases of polyhydramnios or oligohydramnios
of undetermined etiology (risk of CHD or functional abnormality)
14. Familial syndromes which are associated with congenital heart disease (Ivemark, Noonan, and Marfan's syndromes, for example)
15. Fetal infection (risk of myocarditis)
CHD, Congenital Heart Disease.

ment of all four cardiac chambers. Disproportion with right heart enlargement may also be
observed with frequent atrial ectopy in the
absence of observed tachycardia (Well SR,
personal observations, 1992).
Severe or critical pulmonic stenosis or pulmonary atresia with an intact septum can occur
either with right ventricular dilatation or with
right ventricular hypoplasia. Less severe pulmonic stenosis also may be associated with a
disproportionately large right ventricle. This
lesion otherwise may be quite subtle in utero
because of unreliability of valvular gradient
measurements and compensatory redistribution
of blood flow. Lesions associated with significant pulmonary regurgitation, such as the absent pulmonary valve syndrome, also can be
associated with right ventricular dilatation. (Fig
1).13.14
Constriction or occlusion of the ductus arte-

riosus may lead to dilatation of the right ventricle, right atrium, and systemic veins. Diminished right ventricular shortening and/or
significant tricuspid regurgitation also are associated with ductal obstruction, and are due to
increased right ventricular afterload (Fig 2). 15
Right ventricular systolic dysfunction may lead
to right heart dilatation. Such dysfunction may
be caused by a variety of factors and may be
associated with an overall increased heart size.
Diastolic dysfunction may cause right ventricular dilatation and/or hypertrophy, which are
caused by increased filling pressures.
The volume overload associated with tricuspid regurgitation produces dilatation of the right
atrium and ventricle. If the filling pressures
become significantly elevated, the systemic veins
also may dilate. Causes of tricuspid regurgitation include right ventricular dysfunction, valve
dysplasia or Ebstein's anomaly, and the twintwin transfusion syndrome (Figs 3B, C, and 4).
A disproportionately large right ventricle may
also be seen in growth-retarded fetuses. Presumably, this disproportion is caused by cephalization or by redistribution of fetal blood flow to
the head, rather than to the body. The increased
venous return from the head passes through the
right heart, while left heart flow is diminished
because of the usual direction of fetal blood
flOW. 10

A large right ventricle with a small left ventricle should suggest left-sided obstructive lesions;
this condition also is seen in malaligned atrioventricular septal defects and in some cases of
double outlet right ventricle. Two potential
developmental explanations have been offered
to explain left ventricular hypoplasia. First, it is
suggested that inflow or outflow obstruction
shunts blood flow away from the left ventricle,
resulting in a diminished stimulus for growth.
Second, it is argued that the left ventricle is
small because of primary abnormalities in growth
potential or myocardial function. 16,17It is likely
that a variety of causes are responsible.
Left-sided obstructive lesions include mitral
stenosis, aortic stenosis, and aortic coarctation,
which may occur as isolated lesions or in combination with one another (Fig 5). The hypoplastic left heart syndrome is a severe combination
of left-sided obstructive abnormalities. The hypoplastic left heart syndrome involves mitral

300

WElL AND HUHTA

Fig 1. Vascular chest mass in tetralogy of Fallot with absent pulmonary valve syndrome. (A) Note the nearly normal four-chamber
view. In this case, the right ventricle is only mildly dilated relative to the left, and the ventricle septal defect (arrowhead) is seen under
the aortic valve. (B) Same fetus as in 5A. A more anterior view better shows the overriding aorta as well as the dilated pulmonary
artery. (C) A 30-week fetus w h o presented with an echolucent mass that was shown to be dilated main and branch pulmonary
arteries. Note the plate-like pulmonary valve, the narrow annulus, and the dilated pulmonary artery compressing the left atrium. (D)
Continuous wave Doppler shows the typical to-fro pattern across the pulmonary valve. The pulmonic stenosis peak velocity, 3.2
meters/second away from the transducer, suggests a gradient of 41 torr. Pulmonary insufficiency is shown as flow above the
baseline throughout diastole. PS, pulmonic stenosis; PI, pulmonary insufficiency.

and aortic stenosis or atresia and aortic arch

hypoplasia with coarctation. The degree of
obstruction to forward flow is so severe that the
aortic arch, head and neck vessels, and coronary
arteries are supplied retrograde from the ductus
arteriosus. Ventricular and great vessel disproportion often is the most apparent finding in
aortic coarctation, because the coarctation itself
is difficult to image, is Coarctation is often associated with other left-sided lesions. The most
commonly associated abnormality is a bicuspid
aortic valve with or without aortic stenosis, and
subaortic stenosis. When the left ventricle is
small, careful evaluation is warranted to rule
out isolated or associated mitral stenosis with or
without a parachute mitral valve. Comparison
of the mitral and tricuspid annulus size as well

as subjective quantification of inflow by color

Doppler are helpful. If the papillary muscles are
fused or closer together than normal, a parachute mitral valve is likely. This deformity
usually is associated with some degree of mitral
stenosis.
In most cases, the degree of left-sided obstruction is difficult to predict in utero, and multiple
levels of obstruction further complicate the
diagnosis. It is helpful, nonetheless, for purposes of counseling and perinatal management,
to try to predict the degree of obstruction and
postnatal ductal dependence. The dilemma of
"how small is too small" regarding the left heart
structures is even more difficult in utero than
postnatally.
Until postnatal hemodynamics can be as-

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

Fig 2. Constriction of the ductus arteriosus. (A) Normal ductus

arteriosus waveform. The peak
velocity is normal for age, the
diastolic velocity is low, and the
pulsatility index is within the normal range of 1.9 to 3.0. (B} Ductal
constriction is shown by continuous wave Doppler waveform of
the ductus arteriosus in a 29week fetus whose mother was
treated with indomethacin for
preterm labor. The ductus peak
velocity is quite elevated to 2.88
meters/second, and the diastolic
and mean velocities are elevated
as well, resulting in a low pulsatility index (maximum=minimum/
mean velocity) of 0.95. (C) Color
Doppler shows tricuspid regurgitation (arrowhead) secondary to
ductal constriction in the same
fetus.

301

302

WElL AND HUHTA

Fig 3. Atrioventricular valve

abnormalities. (A) Fetus at 25.3
weeks" gestation with heterotaxy (in this case, asplenia). There
is a typical, complete atrioventricular septal defect (atrioventricular canal) and dextrocardia
(with the cardiac apex to the
right, although the descending
aorta is to the left of the spine).
The ventricles are inverted with
the left ventricle to the right of
the right ventricle, and there is
biventricular hypertrophy of unclear etiology. Pulmonary atresia
was also present, R, right; L, left;
RV, right ventricle; LV, left ventricle; CAVO, common atrioventricular valve orifice; DAo, descending aorta; S, spine.

sessed, it may be impossible to differentiate

multilevel left-sided obstruction, with the potential for postnatal two ventricle repair, from the
true hypoplastic left heart syndrome, a9 A slitlike left ventricle and/or prenatal retrograde
flow in the aortic arch strongly suggest hypoplastic left heart syndrome, but many cases are not
so clear cut. Once the pulmonary vascular resistance decreases and pulmonary blood flow increases postnatally, the direction of ductal blood
flow should normally be left to right. Inadequate
upper and/or lower body blood flow caused by a

left-sided obstruction may be apparent before

or after the ductus constricts. Left-sided obstructive lesions in a female fetus should prompt
evaluation for Turner's (XO) syndrome.
Other anomalies in which the left ventricle
may commonly be small include some forms of
double outlet right ventricle and a malaligned
or unbalanced atrioventricular septal defect
(AV canal), in which greater inflow is directed
to the right ventricle.

Ventricular disproportion: left greater than right.

A normal right ventricle with a dilated left

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

303

Fig 3 (cont'd). (B) Fetus with a dysplastic tricuspid valve

and tricuspid regurgitation. Note the nondisplaced insertion of
the septal leaflet of the tricuspid valve (arrowhead), ruling out
Ebstein's anomaly. Color Doppler shows two jets of regurgitation (open arrows). RA, right atrium; LA, left atrium; Ao, aorta.
(C) Color Doppler is used to guide continuous wave Doppler,
which shows tricuspid regurgitation in the same fetus as in Fig
3B. Tricuspid inflow is above the baseline, while regurgitation
is below the baseline (away from the transducer), and holosystolic, suggesting it is severe. Using the modified Bernoulli
equation, gradient = 4 (peak velocity) 2, the velocity of 3.94
meter/second predicts a right ventricular pressure of 4(3,94) z
or 62 torr greater than the right atrial pressure.

ventricle may be seen occasionally with isolated

left-sided myocardial dysfunction (such as with
myocarditis, primary endocardial fibroelastosis,
or the dilated form of critical aortic stenosis).
However, left ventricular dysfunction often is
accompanied by redistribution to--and compensatory enlargement of---the right ventricle, although the right ventricle may still be smaller
than the abnormal left ventricle. A small right
ventricle with compensatory enlargement of the
left ventricle may be seen in tricuspid atresia
(Fig 6), the hypertrophic form of pulmonary
atresia with an intact ventricular septum, malaligned atrioventricular septal defect (AV canal) with greater inflow to the left ventricle, and
double inlet left ventricle. 13 In Ebstein's anomaly of the tricuspid valve, the functional, muscular right ventricle may be small, although the
atrialized portion of the right ventricle may be
quite dilated, z~
Isolated great vessel disproportion. Isolated
great vessel disproportion, with normal ventric-

ular proportion, may or may not be associated

with congenital heart anomalies. Pulmonic stenosis may be associated with a small pulmonary
valve annulus relative to the aortic valve annulus, and/or a dilated main pulmonary artery
caused by poststenotic dilatation. Likewise, a
small aortic valve annulus and/or a dilated
ascending aorta may signal aortic stenosis, although this condition might more commonly be
associated with some ventricular disproportion
as well. Isolated great vessel disproportion therefore merits cautious serial examination and
neonatal reevaluation if there are clinical signs
or symptoms of cardiovascular disease such as a
murmur. For example, in a case of tetralogy of
Fallot, if the ventricular septal defect were
undetected, an enlarged aorta might be the only
diagnostic clue. Tetralogy of Fallot with absent
pulmonary valve syndrome is associated primarily with main and branch pulmonary artery
dilatation but also can result in right ventricular
dilatation. This lesion, most commonly present-

304

WElL AND HUHTA

Fig 4. Two-dimensional imaging and Doppler in hemodynamic

assessment of the compromised
fetus. (A) Normal triphasic inferior vena caval Doppler pattern.
Note the large forward V wave,
the smaller forward E wave and
the tiny A wave of atrial reversal.
(B) Inferior vena caval Doppler
pattern in a 26-week fetus with

oligohydramnios and reversal of

diastolic f l o w in the umbilical
artery. The pattern is triphasic,
which is normal, with well-defined "v" and "e'" waves, However, the "'a" wave is accentuated, with a high velocity and
large area relative to the E wave,
(C) Abnormal biphasic Doppler
pattern in the inferior vena cava
in the larger of the 29-week discordant twins. Note the lack of
visible "e'" wave and the large
"'a'" wave.

ing in the fetus as a vascular chest mass, is

discussed below.
The Enlarged Heart and Cardiovascular
Chest Masses
Few structural heart lesions are associated
with overall cardiac enlargement prenatally.
Differential diagnosis begins with determining
whether the large heart is caused by chamber or
vessel dilatation, myocardial hypertrophy, pericardial effusion, or a combination of these
factors. One must be careful to differentiate an
enlarged heart from a normal-sized heart that
appears large relative to a small chest. The
heart size may be determined by measuring
chamber dimensions by 2-D or, more accurately, by M-mode imaging, and comparing
these measurements with gestational norms.
Additionally, the heart and chest circumferences may be traced and compared, generating

cardiac circumference/thoracic circumference

(CC/TC) and cardiac/thoracic area ratios (Fig
4F). The normal CC/TC ratio is roughly 0.5 and
the normal cardiac/thoracic area ratio is roughly
0.33. Elevated ratios may result from either an
enlarged heart or a small chest or both; comparing the thoracic circumference to gestational
norms is helpful in making this distinction.21
Dilatation. Cardiac enlargement caused by
chamber dilatation may result from a variety of
causes, including atrioventricular valve regurgitation, semilunar valve regurgitation, ventricular outflow obstruction, ventricular systolic dysfunction, anemia, or dysrhythmias.
Atrioventricular valve regurgitation may result in dilatation of the ipsilateral atrium and
ventricle. Dilatation of the ventricle and associated valve annulus leads to further valve regurgitation. Potential causes include atrioventricular septal defect (canal), mitral valve prolapse

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

305

Fig 4 (cont'd), (D) Same fetus as in 7C. Continuous wave Doppler across the tricuspid valve shows a tricuspid regurgitation jet
that is holosystolic, suggesting it is severe. The high peak velocity of 4.39 meters per second suggests a right ventricular pressure of
77 torr greater than right atrial pressure. In the absence of pulmonic stenosis or ductal constriction, this also suggests a systemic
systolic blood pressure of at least 77 torr, which is hypertensive at this gestational age. (E) Biventricular hypertrophy in this fetus
who was the larger of discordant twins with the twin-twin transfusion syndrome, Muscular hypertrophe could be most accurately
quantified using M-mode measurements of wall thicknesses plotted for gestational age. (F) Same fetus as in 7B. The heart appears
large relative to the thorax, The cardiac circumference/thoracic circumference ratio (108.8/187,8| is 0.58, which is well above the
normal value of 0.50. The cardiac area/thoracic area ratio (928/2766) is 0.34, which is just above the normal value of 0.33.

or papillary muscle dysfunction, and Ebstein's

anomaly or dysplasia of the tricuspid valve.
An atrioventricular septal defect (also called
an atrioventricular canal defect) may occur
independently of genetic abnormalities. Often,
however, it is associated with Trisomy 21 and
other trisomies, and is commonly considered
part of the constellation of cardiovascular abnormalities in the heterotaxy syndromes (polysplenia/asplenia). The deficiency of septal tissue is
represented sonographically as a defect in the
lower portion of the atrial septum that extends

through the inlet portion of the ventricular

septum. This condition is visualized optimally in
a view perpendicular to the septa, which eliminates artifactual attenuation ("drop out") of
the septa. Short-axis views from the apex to the
base show the septal defects as well as the
common valve orifice. Four-chamber views obtained from posterior to anterior may show the
posterior-inferior bridging valve leaflet and the
anterior-superior bridging leaflet, which may or
may not have attachments to the septum. 22 Any
associated ventricular size discordance caused

306

WElL AND HUHTA

Fig 5. Ventricular disproportion, right larger than left. (A) A four-chamber view in a fetus w i t h a 2-vessel cord referred to rule out
associated anomalies. Note the slightly larger right ventricle relative to the left. The newborn was asymptomatic but had a bicuspid
aortic valve without aortic stenosis. RV, right ventricle; LV, left ventricle. (B) A short-axis view of the ventricles shows a relatively
large right ventricle, measured on 2-D imaging. The lower frame (obtained from the newborn) shows elongation of the aortic arch
between the left carotid and left subclavian arteries. The newborn had coarctation of the aorta.

by unbalanced inflow also can be seen in this

view. The defect may result in significant right
and/or left atrioventricular valve regurgitation,
as well as left ventricular to right atrial shunting.
Spectral Doppler interrogation parallel to inflow may show regurgitation, but the origin(s)
and direction(s) of the jet(s) may be seen best
by color Doppler. An atrioventricular septal
defect often is well tolerated in utero, but
significant regurgitation can lead to hydrops
and may contribute to early fetal loss. Cardiac
dilatation may be compounded by heart block
and/or bradycardia, which may accompany structural heart disease in some patients with the
heterotaxy syndrome (Fig 3A).
Mitral regurgitation caused by abnormal structure (eg, prolapse associated with Marfan's
syndrome) or function (eg, left ventricular or
papillary muscle dysfunction) of the mitral valve
may result in left heart enlargement.
Tricuspid regurgitation and right heart dilata-

tion may be caused either by a structural abnormality (eg, Ebstein's anomaly or dysplastic tricuspid valve) or a functional abnormality of the
right ventricle or papillary muscles (Figs 3B and
C, and 4D). Ebstein's anomaly is a relatively
common structural cause of atrioventricular
valve regurgitation, often leading to the diagnosis of a dilated heart on screening ultrasound
examinations. In this abnormality, the dysplastic (thickened and redundant) valve is displaced
toward the right ventricular apex with abnormal
chordal insertion sites and is pressed against the
right ventricular walls to varying degrees. Ebstein's anomaly results in tricuspid regurgitation
and possible tricuspid and pulmonic stenosis,
with consequent massive enlargement of the
right atrium and the atrialized portion of the
right ventricle. The latter is proximal to the
abnormal valve, which dilates and thins, losing
the capacity to contribute to right ventricular
systolic function. The true right ventricular

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

307

Fig 5 (cont'd). (C) Same patient as in 5A. M-mode allows for more accurate chamber measurement because of its increased frame
rate and differentiation of the phases of the cardiac cycle. Note the left ventricular end-diastolic dimension of 11.7 mm compared
with the right ventricular end-diastolic dimension of 18,0 mm. S, end systole; D, end diastole. (D) The most severe form of ventricular
disproportion with a large right ventricle, In this 19-week fetus with hypoplastic left heart syndrome, the small left atrium and
slit-like left ventricular cavity are not seen well, giving the appearance of a two-chambered heart. RA, right atrium. (E) Same patient
as in D, in a short-axis view. There was severe great vessel disproportion as well. Note the tiny aortic valve, not much laTger than the
normal right coronary artery. AoV, aortic valve; LA, left atrium; RCA, right coronary artery.

cavity is the portion distal to the valve, which

may be mildly or severely decreased in size. The
presenting screening diagnosis often is an enlarged heart, enlarged right atrium, vascular
chest mass, or, occasionally, overt hydrops.
Once sonography identifies gross right atrial
enlargement, the anatomy of the tricuspid valve
and, in particular, the septal leaflet attachments
must be evaluated, particularly by four-chamber

and short axis views. The right ventricular outflow tract and pulmonary artery also must be
evaluated by 2-D imaging. Doppler is useful in
evaluating tricuspid inflow and regurgitation.
Color Doppler can show the breadth and direction of the inflow jet as well as regurgitation and
the pattern of right ventricular outflow. Continuous wave Doppler can be used to measure
the peak velocity of the regurgitation to esti-

308

WElL AND HUHTA

Fig 6. Ventricular disproportion, left larger than right. (A)

Fetus with tricuspid atresia. Note the echogenic right atrioventricular groove (arrowhead) and the lack of connection between the right atrium and hypoplastic right ventricle. (B)
Another fetus with tricuspid atresia, with transposition of the
great arteries as well, Note the pulmonary artery arises from
the large left ventricle and the aorta arises from the hypoplastic right ventricle. The ventricular septal defect is restrictive,
producing subaortic stenosis {arrow). RA, right atrium; LA, left
atrium; RV, right ventricle; LV, left ventricle; Ao, aorta; PA,
pulmonary artery.

mate right ventricular pressure. The modified

Bernoulli equation:
Pressure Gradient = 4 (velocity)2
is used to predict a pressure gradient from the
peak velocity across a valve or focal stenotic
orifice. In tricuspid regurgitation, the peak velocity of this jet reflects the pressure difference
between the right ventricle and the right atrium
during systole. If the right ventricular pressure
can be estimated using the tricuspid regurgita-

tion jet, then the left ventricular and systemic

systolic blood pressures are also known, because they are all equal if the ductus is widely
patent and there is no semilunar valve stenosis
(Figs 3C and 4D)
Several important features aid in predicting
the prognosis of Ebstein's anomaly. Dilatation
of the atrialized portion of the right ventricle,
which extends into the left ventricular outflow
tract, can lead to prenatal or postnatal left
ventricular obstruction. Severe right ventricular
outflow obstruction may develop, presumably
because of inflow limited by tricuspid stenosis,
forward flow diminished by massive tricuspid
regurgitation, or direct obstruction to outflow
by tricuspid valve tissue. This obstruction is
accompanied by right-to-left atrial shunting of
desaturated blood and may result in postnatal
ductal dependence for adequate pulmonary
blood flow. Ductal dependence can be predicted in utero if ductal shunting is from the
aorta to the pulmonary artery. More commonly,
in utero ductal shunting is from the pulmonary
artery to the aorta, and adequacy of the right
heart to carry the increased postnatal pulmonary blood flow must be inferred by the sizes of
and flows through the tricuspid orifice, true
right ventricular cavity, and pulmonary valve.
Some investigators2~suggest that in utero diagnosis itself portends a poor prognosis, based on
the assumption that the severity of the disease
made it more obvious on a screening ultrasound. This assumption may not be correct in
the face of more widespread and careful fetal
cardiac screening. Semilunar valve regurgitation is associated with right heart enlargement
in tetralogy of Fallot with absent pulmonary
valve syndrome, which may also present as a
cystic or vascular chest mass (Fig 1). Generally
in tetralogy of Fallot, there is a malaligned
ventricular septal defect with an overriding
aorta. The most salient feature is a plate-like
fibrous tissue structure occupying the pulmonary annulus in place of the pulmonary valve.
This tissue neither opens nor coapts and is
perforated only by a small orifice. The result is
severe pulmonic stenosis and free pulmonary
insufficiency. High velocity prograde flow (or
"jet") leads to dilatation of the main, right, and
sometimes the left pulmonary arteries. The
regurgitation produces a tremendous volume
load on the right ventricle and pulmonary after-

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

ies. Therefore, a screening ultrasound often

shows either a large right ventricle or a huge
echolucent area behind (and sometimes impinging on) the left atrium, ie, the main and right
pulmonary arteries. Doppler identifies this echolucency as a vascular structure. Doppler interrogation across the pulmonary "valve" shows the
classic high velocity to-and-fro pattern of pulmonic stenosis and insufficiency. To anticipate
the newborn's hemodynamic condition, it is
useful to evaluate the severity of pulmonic
stenosis and insufficiency and to measure chamber and branch pulmonary artery sizes. When
stenosis and insufficiency are severe and compounded by the normally high neonatal pulmonary vascular resistance, the newborn may be
severely cyanotic, either temporarily and responsive to oxygen administration (to lower the
pulmonary vascular resistance) or persistently
(caused by severe stenosis). The ductus generally is absent (a theoretical cause of the anomaly) and is an unreliable source of pulmonary
blood flow. 14 Often more clinically significant
than the cyanosis is the mass effect of the
dilated vascular structures. These arteries often
produce pulsatile compression on the airways
causing obstructive lung disease that may lead
to pulmonary hypoplasia.
Impaired ventricular systolic function may
lead to progressive dilatation of either ventricle.
Ventricular shortening, an indicator of systolic
function, can be assessed on 2-D imaging but is
best confirmed by M-mode measurements of
the ventricles in systole and diastole, either in
long- or short-axis views. Dimensions may be
plotted by gestational age on nomograms and
the shortening fraction may be calculated using
the formula:
SF-

EDD - ESD
EDD

where E D D is end-diastolic dimension and E S D

is end-systolic dimension. Approximate normal
minimum values for the shortening fraction are
0.25 for the right ventricle and 0.30 for the left
ventricle. Diminished ventricular shortening may
be caused by infectious myocarditis, dilated
cardiomyopathy of unknown etiology, fetal hypoxia, endocardial fibroelastosis, or severe outflow obstruction (such as critical pulmonic or
aortic stenosis or severe ductal constriction).
Infectious myocarditis is typically viral, al-

309

though viral identification is often elusive. Confirmatory cultures or serology, associated anemia, or other sonographic findings such as
echogenic bowel or intracranial calcifications
may support a viral etiology.
Fetal hypoxia may be inferred from clinical
observation, abnormal umbilical cord Doppler,
abnormal blood gases obtained by percutaneous umbilical blood sampling (PUBS), or labile
ventricular dysfunction.
Endocardial fibroelastosis (EFE) appears as
increased echogenicity of the endocardium and
papillary muscles. This lesion may either be
primary or may result from any abnormality that
causes dilatation and increased ventricular filling pressures, thus compromising coronary diastolic blood flow to the endocardium. Endocardial fibroelastosis may be associated with both
systolic and diastolic dysfunction.
Significant outflow obstruction may occur at
the outflow tract or ductus arteriosus. Outflow
tract obstruction may be predicted by severely
diminished size using 2-D imaging and/or increased velocity or spectral dispersion ("turbulence") by Doppler. Although sometimes seen
with ventricular hypoplasia, severe pulmonic or
aortic stenosis or atresia may be associated with
a dilated and poorly contractile right or left
ventricle, respectively. Constriction or occlusion
of the ductus arteriosus may result in dilatation
of the right heart (ventricle, atrium, systemic
veins) associated with diminished right ventricular shortening and/or tricuspid regurgitation.
This problem, which may occur acutely or chronically, commonly is related to maternal indomethacin administration (Fig 2). 14,23 If chronic
and persisting near delivery, ductal constriction
may lead to persistent pulmonary hypertension
in the newborn.
Fetal anemia may result from hemolytic or
infectious disease. Anemia can produce a high
output state--evidenced by chamber enlargement and increased velocities throughout the
heart--compared with gestational age norms
and may progress to hydrops. Unfortunately,
these findings may be relatively insensitive and
nonspecific for diagnosing fetal anemia.
Dysrhythmias that may lead to ventricular
dilatation include both bradydysrhythmias (as
in sinus node dysfunction or heart block associated with structural disease, or heart block secondary to maternal systemic lupus erythemato-

310

sis) and tachydysrhythmias(such as supraventricular tachycardia or ventricular tachycardia).24-27

Both dysrhythmias (tachycardias, bradycardias,
and ectopy) and primary myocardial dysfunction may contribute to the dilatation seen in
myocarditis.
Hypertrophy. Hypertrophy--increased muscle mass resulting from increased cell size--is
another cause of an enlarged heart, and is
recognized by gross observation of thickened
walls and septa, particularly of the ventricles
(Fig 4E). Accurate dimensions are measured at
end-diastole using M-mode and are compared
with gestational age norms. 28Progression can be
evaluated by serial measurements in certain
clinical situations. Severity can be estimated by
wall thickness measurement. In addition, subaortic obstruction can be estimated by subaortic
fixed and dynamic narrowing, turbulence or
increased velocity with delayed upstroke across
the left ventricular outflow tract, or by systolic
anterior motion (SAM) of the mitral valve on
2-D imaging or M-mode. Hypertrophy may be
primary or may occur in the presence of maternal diabetes or twin-twin transfusion syndrome.
It also may be associated with diastolic dysfunction.
Infants of diabetic mothers often have macrosomia and organomegaly. Their cardiac hypertrophy may present as a hypertrophic cardiomyopathy, with assymetric septal hypertrophy
(ASH) similar to idiopathic hypertrophic cardiomyopathy. This condition is generally progressive during gestation and, therefore, may not be
recognized on second-trimester scans. It typically resolves spontaneously postnatally, probably does not correlate with the degree of maternal glucose control, and is usually asymptomatic
in the fetus and newborn. 29
An increase in fetal afterload caused by
outflow obstruction or hypertension can induce
hypertrophy in experimental models. One clinical situation is the so-called "twin-twin transfusion syndrome" in which monochorionic twins
develop growth discordance and hemodynamic
derangements because of the interconnection
of their placental circulations. Generally, the
larger twin develops hypertrophy, related in part
to coexisting hypertension (Figs 4D and E). 3~
Primary hypertrophic cardiomyopathy rarely
presents in utero, although it is sometimes seen
in Noonan syndrome.33Metabolic or storage dis-

WElL AND HUHTA

eases very rarely present in this fashion during

fetal life, although some may cause hydrops. 34
Diastolic dysfunction, with increased filling
pressures, is associated with hypertrophy. Conversely, hypertrophy may adversely affect diastolic function. The hallmark of diastolic dysfunction is impaired relaxation and filling of the
ventricles. Diastolic dysfunction is difficult to
confirm by echocardiography but may be inferred from abnormalities in atrioventricular
valve and venous Doppler (Fig 4).
With diastolic dysfunction, the mitral or tricuspid inflow patterns may demonstrate abnormalities in the passive filling ("e" wave) and atrial
systole ("a" wave) morphologies. The normal
fetal ventricle fills differently from the adult
ventricle. This results in a dominant "a" wave
filling pattern that may be exaggerated or diminished in combination with diastolic dysfunction.35
Interrogation of other fetal vessels (such as
the systemic veins) may yield further evidence
of diastolic dysfunction. For example, the normal fetal inferior vena cava yields a triphasic
pattern, with the first two waves being forward
flow from the inferior vena cava toward the
heart. The first is a large forward "v" wave that
is associated with ventricular systole and movement of the tricuspid valve towards the apex,
leading to atrial filling. The second is a smaller
forward "e" wave produced by the early, passive
inflow into the right ventricle from the atrium.
The third is a tiny flow reversal, the "a" wave,
caused by atrial systole that actively forces
blood into the ventricle but also generates a
small wave backwards into the inferior vena
cava. With impaired filling, this pattern can
gradually become biphasic, as the "e" wave
diminishes and becomes less well defined from,
or superimposed on, the "v" wave. The atrial
reversal becomes more accentuated, usually
becoming of higher velocity with a larger area
under its curve. In some cases, the inferior vena
caval signal becomes quadriphasic, with an
additional flow reversal interrupting the "v" or
"e" wave. This venous Doppler change signals a
prehydropic state. It probably is the transmission of these waves to the umbilical vein as the
disease process progresses that leads to the
observation of umbilical venous pulsations in
the compromised fetus. 36-38
Pericardial effusion. Pericardial effusion is
fluid within the pericardial sac. It must be

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

differentiated from the small amount of lubricating fluid normally present and from the artifactual echolucency of myocardium, accentuated
by hypertrophy, that is known as a "halo" effect.
Imaging from multiple views and M-mode may
be helpful in evaluating movement of the echolucent region with the cardiac cycle. Usually the
fluid is echolucent but may appear shaggy or
particulate, particularly with infectious pericarditis. Other causes of pericardial effusion include hydrops fetalis from any number of etiologies, such as profound or acute anemia or
twin-twin transfusion syndrome. Hydrops often
is associated with hypoalbuminemia. Pericardial effusions may also be seen with or without
pleural effusions, cystic hygromata, or gross
hydrops in Turner syndrome or Noonan syndrome. The significance of a pericardial effusion may be diagnostic as well as hemodynamic.
A large fluid collection may impair cardiac
filling and lead to compression of the ventricles
and atria with dilatation of systemic veins.
Chest masses. The referring indication for a
fetal echocardiographic study is sometimes a
chest mass. When this mass is hypoechoic, the
examiner must determine if the "mass" actually
is a vascular structure. Doppler is useful in this
situation, as is evaluation of the anatomic connection of the mass to the cardiovascular system. The large right atrium in Ebstein's anomaly and the large branch pulmonary arteries in
absent pulmonary valve syndrome often present
as vascular chest masses on screening ultrasonographic examination (Fig 1).
Septal Defects and Other Shunt Lesions
In general, isolated septal defects do not lead
to a large heart in utero, because elevated
pulmonary vascular resistance prevents significant pulmonary overcirculation. Difficulty in
diagnosis also is related to the equal ventricular
pressures and normal fetal shunts within the
normal fetal circulation.
Atrial septal defects can be obscured by the
presence of the obligate right-to-left shunt across
the foramen ovale. True deficiency of atrial
septum in the area of the fossa ovalis (septum
primum) may not be recognizable prenatally.
However, extensive deficiency of the atrial septurn, such as in common atrium, should be
recognized, particularly with views perpendicular to the septum that decrease artifactual

311

attenuation. In addition, defects in other portions of the septum, such as a sinus venosus
defect near the vena cavae, may be more easily
seen. Atrioventricular septal defects (AV canal)
may be recognized, as described above, by the
deficiency in atrial and ventricular septa and the
common atrioventricular valve. = Although
shunting typically is minimal, there may be
evidence of valve regurgitation, ventricular and
great vessel disproportion, and pulmonary venous connection abnormalities. These defects,
in particular, merit testing for genetic diagnosis,
and those considered part of heterotaxy syndrome require careful evaluation for systemic
and pulmonary venous abnormalities as well as
outflow obstruction (Fig 3A).
Ventricular septal defects may be present in
any region of the ventricular septum. Because
the structure is somewhat helical~rather than flat,
evaluating it for defects requires systematic and
thorough interrogation of all the parts of the
septum: inlet, muscular trabecular, membranous,
and outlet. Color and pulsed wave Doppler may
offer some help. Although there is little net
shunting across these defects in utero, there
commonly is a small amount of bidirectional
shunting with the cardiac cycle, with the shunt
from left ventricle to right ventricle in systole
caused by asynchronous pressure changes during contraction and relaxation of the ventricles.
Inlet ventricular septal defects involve the
posterior portion of the septum near the atrioventricular valves. They may extend to the
muscular or membranous septum, or be part of
a complete atrioventricular septal defect (AV
canal). These are best identified on the fourchamber view, with Doppler interrogation for
evidence of valve regurgitation. Short-axis views
are helpful also.
Small or large defects may involve the muscular trabecular septum, which is best seen on
four-chamber and short-axis views.
Defects of the membranous septum are common. They may extend to any of the other areas
of the ventricular septum (inlet, muscular trabecular, or outlet) and, therefore, are designated
perimembranous ventricular septal defects.
These defects are best seen on the parasternal
short axis view in which the aorta appears as a
circle in the center of the heart. The membranous septum is seen below the tricuspid valve, at
approximately 11 o'clock if the right ventricular

312

outflow tract and pulmonary valve are oriented

anterior to and to the right of the aortic valve.
The perimembranous septum also may be seen
when angling anteriorly from a four-chamber
view and evaluating the right and left ventricular outflow tracts.
Defects in the outlet septum include the
posterior malalignment defects associated with
subaortic stenosis and aortic arch coarctation or
interruption, the anterior malalignment associated with subpulmonic stenosis in tetralogy of
Fallot, or the absence of outlet septum in truncus
arteriosus. These lesions are best seen in out-

WElL AND HUHTA

flow tract views such the parasternal long- and

short-axis views and a four-chamber view with
anterior angulation towards the left and right
outflow tracts, and are discussed below in "Conotruncal Abnormalities" (Figs 7 and 1A and B).
Discordant Connections

The traditional cardiac evaluation for congenital heart disease involves segmental examination and description. This approach requires
assessment of the heart and great veins and
arteries at multiple levels. This involves determination of abdominal and atrial situs and pulmo-

Fig 7. Conotruncal abnormalities. In these examples, as in most conotruncal lesions, the four-chamber view is normal and images
of the outflow tracts are required to identify congenital heart disease. (A) A fetus with transposition of the great arteries. The aorta is
anterior to the pulmonary artery, which is seen to bifurcate. A, anterior; P, posterior; / , left; R, right; LV, left ventricle; RV, right
ventricle; AoV, aortic valve; Asterisks, pulmonary valve; RPA, right pulmonary artery; LPA, left pulmonary artery. (B) Another fetus
with transposition of the great arteries. The left ventricle gives rise to the pulmonary artery. PA, pulmonary artery. (C) The same fetus
as in B. The anterior right ventricle gives rise to the aortic arch (arrowheads). (D) A fetus with tetralogy of Fallot. Note the overriding
aorta that arises from both ventricles over the ventricular septal defect (arrow).

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

nary and systemic venous connections, atrial to

ventricular relationships (atrioventricular concordance), and ventricle to artery relationships
(ventriculoarterial concordance).
Visceral situs and pulmonary and systemic venous abnormalities. Although the pulmonary
veins are difficult to identify in utero, they can
be seen with color Doppler, which plays an
important role when the heterotaxy syndromes
are suspected. Turbulence, shown by spectral
dispersion on pulsed wave or color Doppler,
may suggest pulmonary venous obstruction.
Knowledge of the presence or absence of obstruction may be useful in preparing for newborn management. Abnormalities of systemic
venous drainage, such as bilateral superior venae cavae, left-sided inferior and/or superior
venae cavae, or interrupted inferior vena cava
with azygous continuation to the superior vena
cava, often are clues to the diagnosis of heterotaxy. The presence of the abdominal aorta and
the inferior vena cava on the same side of the
spine is a hallmark of the heterotaxy syndromes,
which also are identified by abnormalities of
cardiac position, intracardiac structure, and
heart rhythm (Fig 3A). 37
Atrioventricular discordance and univentricular
atrioventricular connections. Atrioventricular
discordance implies that the right atrium is
connected via a mitral valve to the left ventricle,
and that the left atrium is connected via a
tricuspid valve to the right ventricle. This abnormality arises from inappropriate L-looping with
the atria in situs solitus, which results in the
right ventricle lying anterior, but leftward, relative to the left ventricle. The true identity of
each ventricle relies on recognition of the normal morphological features of the atrioventricular valves and the ventricles. In addition, atrioventricular discordance typically is associated
with L-transposition of the great arteries, in
which the aorta arises from the left-sided right
ventricular conus as the anterior great vessel.
The diagnosis requires the mental assembly of
various echocardiographic views, with attention
paid to morphological identification of individual chambers, valves, and vessels, and their
connections. L-loop hearts often have more
complex defects, sometimes with unbalanced
connections of the atria to the ventricles, or
atresia of one of the atrioventricular valves with
associated hypoplasia of the corresponding ven-

313

tricle. There also may be outlet obstruction,

most commonly pulmonic stenosis. The anatomy determines the postnatal hemodynamics
and the prediction of cyanosis and/or obstruction is vital to newborn management. L-loop
hearts also are prone to complete heart block,
either congenital or later in life. The combination of complete heart block, complex congenital heart disease, and valve regurgitation often
carries a poor prognosis.
Conotruncalabnormalities. The normal relationship of the great vessels involves the left
ventricle giving rise to the aorta with fibrous
continuity between the mitral and aortic valves.
The pulmonary artery arises from the conus of
the right ventricle, with conus muscle separating
the pulmonary from the tricuspid valve. Because of the formation of the spiral septum and
the normal rotation and leftward migration of
the conus during embryologic development, the
great arteries ultimately lie evenly over the ventricles and spiral around each other, or crisscross, with the pulmonary valve lying anterior to
and leftward of the aortic valve. The pulmonary
artery is seen to bifurcate into the right and left
branches and to give rise to the ductal arch.
Likewise, the aorta gives off the coronary arteries and the vessels of the head and neck.
D-Transposition.
When the great arteries
arise in parallel fashion without spiraling around
each other or criss-crossing, it usually is a sign of
D-transposition of the great arteries (Dextro- or
complete transposition). D-transposition is suspected when these vessels are seen in the same
plane, particularly in a parasternal long axis
equivalent view. The diagnosis, which may be
aided by color Doppler, is established by showing ventriculo-arterial discordance: The posterior left ventricle gives rise to the posterior great
vessel, which bifurcates and is shown to be the
pulmonary artery. Likewise, the anterior right
ventricle gives rise to the aorta, which lies
anterior (instead of posterior) to the pulmonary
artery (Figs A, B, and C). In D-transposition of
the great arteries, it is helpful to identify other
defects such as a ventricular septal defect or
pulmonic stenosis, which may affect neonatal
decision making. In addition, a very restrictive
foramen may put the newborn at risk for profound cyanosis and acidosis, which require
prompt invasive management by catheter or
surgery.

314

Overriding great vessel and double outlet right

ventricle. In this condition, which is associated
with a ventricular septal defect caused by absence or malalignment of the outlet septum, one
great vessel may be seen to override the lower
portion of the septum (Fig 7D). Generally, one
vessel arises over the ventricular septal defect
while the other arises from the right ventricle.
In fact, if the overriding vessel is more committed to the right ventricle as well, or if there is a
bilateral conus with loss of the fibrous continuity of the mitral valve to either semilunar valve,
the defect may be double outlet right ventricle
(DORV). D O R V comes in various forms, some
resembling tetralogy of Fallot with pulmonic
stenosis, or D-transposition with subaortic and
aortic arch obstruction (Taussig-Bing anomaly),
or severe hypoplasia of the left ventricle. The
outflow tracts are best evaluated by long-axis
views, supplemented by short-axis and anteriorly angulated four-chamber views. Identification of the overriding vessel is crucial and
involves imaging the great arteries beyond the
ventricular outflow tracts to the pulmonary
arteries or the aortic arch; the overriding vessel
may be the aorta (as in tetralogy of Fallot), the
pulmonary artery (as in Taussig-Bing anomaly),
or a persistent truncus with an absent outlet
septum and a truncus arteriosus. 3s
Single ventriculo-arterial connection. When
only one great artery is seen to arise from the
heart, it is necessary to identify that great artery
and to search thoroughly for the other artery.
For example, an overriding great artery that
gives rise to the aortic arch may be tetralogy of
Fallot with pulmonary atresia (pulmonary atresia with ventricular septal defect). The ventricular septal defect is an anterior malalignment,
the blind-ending right ventricular outflow tract
may be seen, and the branch pulmonary arteries, either continuous at the pulmonary artery
confluence or discontinuous and seen closer to
the hila, may or may not be recognized and
measured with color Doppler. Truncus arteriosus may be present if the great artery overrides a
defect associated with an absent outlet septum,
and this vesseI gives rise to the aorta. The
pulmonary arteries may arise from a common
trunk on the left posterior surface of the truncus, with the right pulmonary artery coursing in
the usual fashion between the ascending and
descending aorta. The pulmonary arteries may

WElL AND HUHTA

also arise singly, with one or the other possibly

absent. Evaluation of the aortic arch should be
performed to rule out an associated interruption, which greatly increases the risk of corrective surgery. Full evaluation of truncus arteriosus is largely dependent on long- and short-axis
views of the outflow tracts and great vessels.
Finally, if the overriding great artery is the
pulmonary artery, location of the atretic aortic
valve and the ascending aorta should be determined retrograde from the aortic arch, as blood
flows backwards to supply the coronary arteries.
In fact, its size is approximate to the total size of
the coronary arteries, as in hypoplastic left
heart syndrome.

Aortic Arch Abnormalities

The aortic arch is composed of the ascending
aorta (which should arise from the posterior left
ventricle), the transverse arch (which gives rise
to the head and neck vessels), the narrow
isthmus between the left subclavian artery and
the ductal insertion, and the descending aorta
distal to the ductus. The normal arch ascends
toward the right shoulder, curves posteriorly to
the left of the trachea, and descends angling
from near midline to rest left of the spine in the
abdomen. The first vessel arising from a normal
left arch is the right brachiocephalic artery,
which branches into the right subclavian and
right carotid arteries. Because of the threedimensional structure of the aortic arch, it is not
always possible to image its entire "candy cane"
in a single image. Dynamic scanning through all
the segments allows for the mental reconstruction of the entire arch.
One aortic arch anomaly, often associated
with tetralogy of Fallot, is a right aortic arch
with mirror image branching (left brachiocephalic artery). It has clinical significance preoperatively but may be difficult to diagnose in
utero. However, a right aortic arch can be
suspected, with careful orientation to the fetal
chest position, by following the arch as it curves
posteriorly to the right of the midline trachea
and esophagus, giving rise to the left brachiocephalic artery. The right arch then descends from
midline to the left of the spine, in the same
position as the left aortic arch.
Coarctation is a relatively common abnormality consisting of narrowing of the aorta, usually
in the juxtaductal region near the insertion of

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

the ductus. The typical coarctation is composed

of a shelf of tissue on the posterior wall of the
descending aorta just distal to the left subclavian and opposite the ductus. However, there
may be longer segment constriction as well as a
component of constriction of additional ductuslike tissue postnatally. The coarctation itself is
very difficult to visualize in utero. It may be
suspected in the presence of ventricular disproportion, with the left ventricle smaller than the
right. The transverse arch may be hypoplastic or
narrow, and there tends to be elongation of the
segment between the left carotid and left subclavian arteries (Fig 5). Coarctation may accompany other left-sided lesions such as mitral
stenosis, subaortic stenosis, posterior malaligned
ventricular septal defect, aortic stenosis, and
hypoplastic left heart syndrome with aortic
atresia. The presence of coarctation increases
the likelihood of Turner syndrome, so other
sonographic signs and genetic diagnosis should
be sought.
A more severe abnormality is interruption of
the aortic arch, which may occur distal to the
left subclavian (type A), between the left carotid and left subclavian (type B, the most
common), or between the right brachiocephalic
and left carotid (type C). The vessels distal to
the interruption are dependent on retrograde
filling by right-to-left ductal shunting. Diagnosis
is made by establishing lack of continuity between segments of the aortic arch and by
showing retrograde flow toward the interruption on Doppler. This lesion often is associated
with truncus arteriosus or posterior malaligned
ventricular septal defect with subaortic stenosis,
and its diagnosis should be sought with these
abnormalities. Postnatally, interrupted aortic
arch has been associated with DiGeorge syndrome (parathyroid and thymic deficiency).

Intracardiac Masses and Echogenicities

"Bright" cardiac masses are a common reason for referral. It is important to differentiate
the benign majority from the few that portend
serious disease. Echogenicities of the chordae
tendonae are generally benign but must be
differentiated from dysplasia of the valve itself
and from echogenicity of the papillary muscles
and endocardium, which suggests endocardial
fibroelastosis (Fig 8). Cardiac tumors arise from
the muscular walls of the atria or ventricles.

315

Fig 8. Intracardiac masses. Several small echogenicities

are seen in the left ventricle. Dynamic scans in this plane and in
the short axis showed these to be mobile, related to the
chordae tendonae, and unrelated to the myocardium, papillary
muscles, or valve leaflets. These are a normal variant and
probably are cysts of the chordae tendonae.

Rhabdomyomas, associated with tuberous sclerosis, may be singular or multiple. They arise
from the muscular walls and may result in a
"shaggy" appearance of the normally smooth
left ventricular septal surface. Their cardiovascular significance results from their size and
location, which may result in obstruction, and
from their potential for triggering dysrhythmias.
DIRECTED STUDIES IN SPECIAL
CLINICAL SITUATIONS

Maternal Indomethacin Therapy

Indomethacin, frequently used to treat preterm labor and/or polyhydramnios, is a prostaglandin inhibitor and can thus affect other
prostaglandin dependent processes. One such
process is maintaining patency of the ductus
arteriosus, which is affected by circulating prostaglandins, blood gases, and pH. Indomethacin
is very effective in closing the postnatal patent
ductus arteriosus in the preterm neonate, and
also has been effective in constricting or occluding the fetal ductus if administered to the
mother during the third trimester. Sensitivity of
the ductus to indomethacin appears to increase
with gestational age, particularly in fetuses near
32 to 34 weeks' gestation. The sensitive ductus
may constrict within hours of the first dose of
indomethacin and it reverses once the indometh-

316

WElL AND HUHTA

acin is discontinued. However, long-term use of

indomethacin may lead to chronic ductal con:
striction, which poses a theoretical risk of
postnatal persistent pulmonary hypertension
(persistent fetal circulation). Therefore, the
third-trimester fetus exposed chronically to indomethacin may merit serial examination for
ductal constriction. Evidence of ductal constriction is obtained by Doppler interrogation across
the ductus. Pulsed wave Doppler can be used,
but continuous wave Doppler increases the
sensitivity for identifying the highest velocity
and for accurately measuring elevated velocities. The ductus arteriosus normally has the
highest blood velocity in the fetus, but its peak
velocity may be further increased by activity and
sympathomimetic tocolytic drugs. Ductal constriction is associated with elevation of both
peak and diastolic velocities, with a relatively
greater increase in the diastolic velocity and
thus a decrease in pulsatility. Pulsatility may be
measured objectively by the pulsatility index,
which is computer generated by some vascular
software packages. These programs obtain ductal waveform, measure maximum and minimum
velocities, trace the entire waveform to generate
a mean velocity, and calculate the pulsatility
index as follows
Pulsatility Index
Maximum Velocity--Minimum Velocity
Mean Velocity
The normal values do not change with gestational age, and a value of less than 1.9 indicates
constriction (with a value of less than 1.0 indicating severe constriction); a value greater than 3.0
may suggest a high output state such as sympathomimetic therapy (Fig 8). 14'23

Dysrhythmias
Abnormal heart rhythm is often the reason
for referral in patients presenting for fetal heart
study. 24-27 Persistent fast heart rhythms such as
atrial tachycardia and flutter and ventricular
tachycardia may result in a large heart, valve
regurgitation, and even hydrops. Sinus tachycardia may result from anemia, infection, fetal
distress, and [3-mimetic therapy. Irregular
rhythms such as frequent atrial ectopy without
sustained tachycardia may occasionally be associated with an enlarged heart (Weil S R , personal observations, 1992) and carry increased

risk of persistent tachycardia. Salient echocardiographic features are discussed above. Other
irregular rhythms include second degree heart
block and atrial fibrillation with high degree
block. Slow rhythms that may result in cardiac
enlargement include atrial bradycardia, atrioventricular block, and atrial bigeminy with block of
premature beats. Fetal dysrhythmias increase
the likelihood of structural heart disease. Functional heart disease such as myocarditis may
also be a causative factor. Complete atrioventricular block should prompt maternal evaluation
for systemic lupus erythematosis. Fetal dysrhythmia assessment is made by mechanical rather
than electrical diagnosis, and this challenging
process is more thoroughly discussed elsewhere
in this publication.

Twin-Twin Transfusion Syndrome

Echocardiographic assessment includes Mmode determination of chamber sizes, wall
thicknesses, and ventricular shortening; careful
interrogation by pulsed, continuous wave, and
color Doppler for tricuspid valve regurgitation
and abnormal patterns in the inferior vena cava
and umbilical vein; and perinatal assessment of
fetal well-being by growth measurements and
Doppler of the umbilical artery and small vessels such as the middle cerebral and renal
arteries. The classic findings are umbilical arterial and growth discordance between the twins
accompanied by a prehydropic state in the
larger twin (involving hypertrophy), tricuspid
regurgitation, hypertension (as predicted by the
modified Bernoulli equation and the tricuspid
regurgitation jet), and abnormal filling patterns
by systemic venous Doppler. Severe hypertrophy may virtually obscure the ventricular cavity
and severely compromise filling. Hydrops may
ensue in the larger twin but also has been
described in the smaller twin in whom the shift
of blood flow to the brain is a compensatory
mechanism. Identification of the progression of
findings before hydops may aid in optimizing
the timing of delivery because the prognosis is
poor once hydrops develops (Fig 4). 32.33
REFERENCES

1. Huhta JC: Future directions in noninvasive Doppler

evaluation of the fetal circulation. Cardiol Clin 7(2):239253, 1989
2. Huhta JC: Fetal examination, in Huhta JC, LudomirskyA (eds): Color Doppler of Congenital Heart Disease in

SONOGRAPHIC DIFFERENTIAL DIAGNOSIS

Children and Adults. Futura Publishers, New York, NY,

1987, pp 109-116
3. Huhta JC, Rotondo KM: Fetal echocardiography.
Semin Roentgenol 26(1):5-11, 1991
4. Schmidt KG, Silverman NH: Evaluation of the fetal
heart by ultrasound, in Callen PW (ed): Ultrasonography in
Obstetrics and Gynecology. Philadelphia, PA, Saunders,
1988, pp 165-206
5. Huhta JC, Strasburger JF, Carpenter RJ, et al: Pulsed
Doppler fetal echocardiography. J Clin Ultrasound 13:247254, 1985
6. Huhta JC, Helton JG, Wood DC: Color Doppler in the
fetal examination. Echocardiography 6(5):393-401, 1989
7. Noonan JA: Syndromes associated with cardiac defects. Cardiovasc Clin 11:97-115, 1980
8. Jones KL: Smith's Recognizable Patterns of Human
Malformation. Philadelphia, PA, Saunders, 1988
9. Huhta JC, Hagler DJ, Hill LM: Two-dimensional
echocardiographic assessment of normal fetal cardiac anatomy. J Reprod Med 29(3):162-167, 1984
10. Rudolph AM: The fetal circulation, in congenital
heart disease. Chicago, IL, Year Book Medical, 1974, pp 1-16
11. Fishman NH, Hof RB, Rudolph AM, et al: Models of
congenital heart disease in fetal lambs. Circ 58(2):354-364,
1978
12. Smallhorn JG: Personal communication
13. Allan LD: Pulmonary atresia in prenatal life. J Am
Coll Cardiol 8(5):1131-1136, 1986
14. Ettedgui JA, Sharland GK, Chita SK, et al: Absent
pulmonary valve syndrome with ventricular septal defect:
Role of the arterial duct. Am J Cardiol 66(2):233-234, 1990
15. Huhta JC, Cohen AW, Wood DC: Premature constric
tion of the ductus arteriosus. J Am Soc Echocardiogr
3(1):30-34, 1990
16. Harh JY, Paul MH, Gallen WJ, et al: Experimental
production of hypoplastic left heart syndrome in the chick
embryo. Am J Cardio131:51-56, 1973
17. Lev M, Arcella R, Remolde HJA, et al: Premature
narrowing or closure of the foramen ovale. Am Heart J
65(5):638-647, 1963
18. Allan LD, Chita SK, Anderson RH, et al: Coarctation
of the aorta in prenatal life: An echocardiographic, anatomical, and functional study. Br Heart J 59:356-360, 1988
19. Marasini M, DeCaro E, Pongiglione G, et al: Left
heart obstructive disease with ventricular hypoplasia:
Changes in the echocardiographic appearance during pregnancy. J Clin Ultrasound 21:65-68, 1993
20. Roberson DA, Silverman NH: Ebstein's anomaly:
Echocardiographic and clinical features in the fetus and
neonate. J Am Coll Cardiol 14:1300-1307, 1989
21. Respondek M, Respondek A, Huhta JC, et al: 2D
echocardiographic assessment of the fetal heart size in the
second and third trimester of uncomplicated pregnancy.
Eur J Obstet Gynecol Reprod Biol 44:185-188, 1992
22. Machado MVL, Crawford DC, Anderson RH, et al:
Atrioventricular septal defect in prenatal life. Br Heart J
59:352-355, 1988
23. Kirshon B, Mari G, Moise KJ Jr, et al: Effect of
indomethacin on the fetal ductus arteriosus during treatment of symptomatic polyhydramnios. J Reprod Med 35(5):
529-532, 1990
24. Allan LD, Anderson RH, Sullivan ID, et al: Evalua

317

tion of fetal arrhythmias by echocardiography. Br Heart J

50:240-245, 1983
25. Maxwell D J, Crawford DC, Curry PVM, et al: Obstetric importance, diagnosis, and management of fetal tachycardia. Br Med J 297:107-110, 1988
26. Kleinman CS, Copel JA, Hobbins JC: Combined echo~
cardiographic and Doppler assessment of fetal congenital
atrioventricular block. Br J Obstet Gynaeco194:967-9774, 1987
27. Machado MV1, Tynan M J, Curry PVI, et al: Fetal
complete heart block. Br Heart J 60:512-515, 1988
28. Allan LD, Joseph MC, Boyd EGC, et al: M-mode
echocardiography in the developing human fetus. Br Heart
J 47:573-583, 1982
29. Zielinsky P, Hagemann L, Daudt L, et al: The fetus
with hypertrophic cardiomyopathy related to maternal diabetes: A pre and post-natal analysis of the associated
factors. J Am Coll Cardiol 19(3):342A, 1992
30. Huhta JC, Well SR, Tahernia D, et al: Doppler
diagnosis of the syndrome of fetal hypertension in discordant twins. J Am Soc Echocardiogr 5(3):314, 1992
31. Tolosa JE, Zoppini C, Ludomisrski A, et al: Fetal
hypertension and cardiac hypertrophy in the discordant
twin syndrome. Am J Obstet Gynecol 168(1):292, 1993
32. Blickstein I: The twin-twin transfusion syndrome.
Obstet Gyneco176(4):714-720, 1990
33. Mendez HMM, Opitz JM: Noonan syndrome: A
review. Am J Med Genet 21:493-506, 1985
34. Metabolic heart disease, in Garson A Jr, Bricker JT,
McNamara DG (eds): The Science and Practice of Pediatric
Cardiology. Philadelphia, PA, Lea & Febiger, 1990, pp
1656-1683
35. Appleton CP, Hatle LK, Popp RL: Relation of
transmittal flow velocity patterns to left ventricular diastolic
function: New insights from a combined hemodynamic and
Doppler echocardiographic study. J Am Coll Cardiol 12(2):
426-440, 1988
36. Rizzo G, Arduini D, Romanini C: Inferior vena cava
flow velocity waveforms in appropriate- and small-for-gestational-age fetuses. Am J Obstet Gynecol 166(1):1271-1280,
1992
37. Reed KL: Doppler ultrasound studies of human fetal
blood flow. Circ 80(6):1914-1917, 1989
38. Groenenberg JAL, Wladimiroff JW, Hop WCJ: Fetal
cardiac and peripheral arterial flow velocity waveforms in
intrauterine growth retardation. Circ 80(6):1711-1717, 1989
39. Brown DL, Emerson DS, Shulman LP, et al: Predicting aneuploidy in fetuses with cardiac anomalies: Significance of visceral situs and noncardiac anomalies. J Ultrasound Med 3:153-161, 1993
40. de Araujo LML, Schmidt K, Silverman NH, et al:
Prenatal detection of truncus arteriosus by ultrasound.
Pediatr Cardiol 8:261-263, 1987
41. Chang AC, Huhta JC, Yoon Y, et al: Diagnosis, transport, and outcome in fetuses with left ventricular outflow
tract obstruction. J Thorac Cardiovasc Surg 102:841-848, 1991
42. Sharland GK, Allan LD: Screening for congenital
heart disease prenatally. Results of a 289
study in the
south east Thames region. Br J Obstet Gynecol 99:220-225,
1992
43. Bromley B, Estroff JA, Sanders SP, Parad R, et al:
Fetal echocardiography: Accuracy and limitations in a
population at high and low risk for heart defects. Am J
Obstet Gynecol 166(5):1473-1481, 1992

Fig 12 (p 295).

Figs 6 and 7 (pp 261 and 262, respectively).