CONGENITAL HEART

DISEASES

Practical approach in
children with heart murmur
MIHAI CRAIU MD PhD
IMCC
NORMAL HEART SOUNDS
 NORMAL HEART SOUNDS

A normal heartbeat makes two sounds

like "lubb-dupp" (sometimes described
as tumm-taah"), which are the sounds
of heart valves closing .
 NORMAL HEART SOUNDS

The normal sounds are:

the first heart sound (S1) produced by
the closing of the AV valves and
second heart sound (S2), produced by
the closing of the semilunar valves.
NORMAL HEART
CARDIAC CYCLE
 HEART MURMURS

Heart murmurs are abnormal sounds

during cardiac cycle generated by
turbulent blood in or near the heart.
 HEART MURMURS

Murmurs may be physiological

(benign) or pathological (abnormal).
 HEART MURMURS
Abnormal murmurs can be VALVULAR
caused by:
stenosis restricting the opening of a
heart valve,
or with valvular insufficiency which
allows backflow of blood when the
incompetent valve closes
MITRAL VALVE INSUFFICIENCY
 HEART MURMURS
Abnormal murmurs can be
NON-VALVULAR caused
by:
Septal defects
ASD, VSD
Endocardial cushion
defect
Patent ductus arteriosus
Out-flow tract stenosis
Vascular stenosis (Ao,
AP)
 CONGENITAL HEART DISEASE
There are three different hemodinamic
CHDs with abnormal murmurs

Left to right shunt (NO cyanosis)

Right to left shunt (WITH cyanosis)
No shunt (vascular)
 CHD with L/R shunt
NO CYANOSIS!!

Most frequent group of CHDs

Most of them are completely

curable with cath-lab procedures or
surgery
 CHD with L/R shunt

ASD (atrial septal defect)

VSD (ventricular septal defect)

PDA (patent ductus arteriosus)

 VSD

A ventricular septal defect (VSD) is a

defect in the ventricular septum, the
wall dividing the left and right
ventricles of the heart.
 VSD

VSDs are the most common congenital

cardiac anomalies.
 VSD

They are found in 30-60% of all newborns

with a congenital heart defect, or about 2-6
per 1000 births.
Congenital VSDs are frequently associated
with other congenital conditions, such as
Down syndrome.
 VSD

The ventricular septum consists of

an inferior muscular and superior
membranous portion and is
extensively innervated with
conducting cardiomyocytes.
Hemodynamics in VSD
 BLOOD FLOW
During ventricular contraction some of
the blood from the left ventricle leaks
into the right ventricle (SHUNT),
passes through the lungs and reenters
the left ventricle via the pulmonary
veins and left atrium.
 PATHOPHYSIOLOGY
L/R SHUNTING produces:
volume overload on the left ventricle
(shunt + venous return from lungs)
high right ventricular pressure and
volume, causing PAH (pulmonary
artery hypertension)
 VSD
In severe cases, the pulmonary arterial
pressure can reach levels that equal the
systemic pressure.
This reverses the shunt, so that blood
then flows from the right ventricle into
the left ventricle, resulting in cyanosis,
as blood is by-passing the lungs for
oxygenation (Eisenmenger syndrome =
fixed PAH)
 VSD
Down syndrome is the most common human
chromosomal aneuploidy*
1/700750 live births
The elevated expression of trisomic genes is
believed to disrupt the normal paths of
development of various organ systems

* Lana-Elola E, Watson-Scales S, Fisher E, Tybulewicz V. - Down syndrome:

searching for the genetic culprits. Dis Model Mech. 2011;4(5):58695 [PMC
free article]
Down Syndrome
Suspicion of Down
syndrome can be
documented
antenatally by
amniocenthesis
Red flag for
dignosis should be
nuchal hyperlucency
Down Syndrome
 Down Syndrome
* din https://en.wikipedia.org/wiki/Down_syndrome
Down Syndrome
Down Syndrome
 VSD
The Down syndrome consensus region (DSCR)
is an example of a locus of DNA that may be
responsible for many of the Down syndrome
features including heart defects.
The DSCR1 gene was once thought to
strongly contribute to the specific features
of DS such as the heart (TOF, AVC).
* Reeves RH, Baxter LL, Richtsmeier JT. - Too much of a good thing:
mechanisms of gene action in Down syndrome. Trends Genet.
2001;17(2):8388.
 VSD
Other studies suggest that DSCR1 is a
regulatory protein involved in the
calcineurin/NFAT pathway.
This protein appears to inhibit calcineurin
phosphatase activity and consequently, could
block calcineurin dependent cardiac
hypertrophic signaling pathways*
* Fuentes JJ, Genesc L, Kingsbury TJ, et al. - DSCR1, overexpressed in
Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.
Hum Mol Genet. 2000;9:168190..
 SIGNS & SIMPTOMS
VSD is an acyanotic congenital heart
defect
Pansystolic (Holosystolic) murmur
(depending upon the size of the defect)
+/- palpable thrill (palpable turbulence
of blood flow).
An infant with a large VSD will fail to
thrive and become sweaty, pale and
tachypnoeic with feeds
 LAB

ECG

Chest Rx

Ultrasound
ECG of VSD
Rx in VSD
Echo of VSD
 TREATMENT
Most cases do not need treatment and
heal at the first years of life.
Treatment is either conservative or
surgical.
Smaller congenital VSDs often close on
their own, as the heart grows, and may
be treated conservatively.
 SURGERY
Should be done in selected cases:
Failure of congestive cardiac failure to
respond to medications
VSD with pulmonic stenosis
Large VSD with pulmonary hypertension
VSD with aortic regurgitation
OCCLUDERS / AMPLATZER
 CHD with CYANOSIS
EXCEPTIONALLY RARE CASES

Persistent fetal circulation

Univentricular heart
 TETRALOGY of FALLOT
A congenital cardiac anomaly with
cyanosis that consists of four defects:
pulmonic stenosis,
ventricular septal defect,
malposition of the aorta so that it
arises from the septal defect or the
right ventricle (Overriding aorta),
right ventricular hypertrophy.
 TETRALOGY of FALLOT

Occurs in less than 1 in 2000 live

births.

Tetralogy of Fallot is the most

common cyanotic congenital heart
defect.
TETRALOGY of FALLOT
SIGNS & SIMPTOMS
SQUATTING
 LAB
CBC
Incresed Hb level
Polycytemia
Incresed platelet count
CHEST Rx in FALLOT
ECHO in FALLOT
TREATMENT
DIFFERENTIALS FOR FALLOT
 Gold Standard for Diagnosis

Heart ultrasound

Color Doppler