"

1etra|ogy of Ia||ot

Lp|dem|o|ogy:
1eLralogy of lalloL (1Cl) ls Lhe mosL common cyanoLlc congenlLal hearL dlsease ln all age groups,
consLlLuLlng approxlmaLely 8 of congenlLal hearL dlsease overall. 1Cl occurs ln approxlmaLely 0.19-
0.26/1,000 llve blrLhs. ln Lhe unlLed SLaLes, Lhe prevalence of 1Cl ls approxlmaLely 3.9 per 10,000 llve
blrLhs.

Def|n|t|on: 1eLralogy of lalloL ls characLerlzed by Lhe presence of four anaLomlcal flndlngs:
1. venLrlcular sepLal defecL
2. ulmonary sLenosls (rlghL venLrlcular ouLflow obsLrucLlon)
3. uexLroposlLlon of Lhe aorLa (overrldlng aorLa)
4. 8lghL venLrlcular hyperLrophy

athophys|o|ogy:
1he flgure below compares Lhe normal anaLomy and blood flow of Lhe hearL Lo LhaL found ln
1eLralogy of lalloL. 1he lnlLlal defecL ln 1Cl ls a narrowlng of Lhe rlghL venLrlcular ouLflow LracL lnLo
Lhe pulmonary arLery. 1hls prevenLs deoxygenaLed blood from enLerlng Lhe pulmonary clrculL. ln
response Lo Lhls ouLflow obsLrucLlon, Lhe myocardlum of Lhe rlghL venLrlcle hyperLrophles ln order Lo
conLracL forcefully enough Lo push blood pasL Lhe sLenosls. AddlLlonally, paLlenLs have a large
venLrlcular sepLal defecL whlch allows shunLlng of blood beLween Lhe venLrlcles. ln a paLlenL wlLh an
lsolaLed vSu, Lhe blood flow ls shunLed lnlLlally from lefL-Lo-rlghL. Powever, ln 1Cl, Lhe rlghL
venLrlcular ouLflow obsLrucLlon may lmpede Lhe normal blood flow so slgnlflcanLly LhaL Lhe lefL slde
of Lhe hearL becomes Lhe paLh of leasL reslsLance. 8lood from Lhe rlghL venLrlcle ls Lhen forced lnLo
Lhe lefL venLrlcle, creaLlng a rlghL-Lo-lefL shunL and subsequenL cyanosls. llnally, Lhe aorLa overrldes
Lhe venLrlcular sepLal defecL, sLraddllng Lhe vSu. 1hls allows deoxygenaLed blood shunLed from Lhe
rlghL venLrlcle Lo lmmedlaLely exlL Lhe hearL mlxed wlLh blood from Lhe lefL venLrlcle.



1he mosL lmporLanL deLermlnanL of Lhe severlLy and cllnlcal consequences of 1Cl ls Lhe degree of
rlghL venLrlcular ouLflow obsLrucLlon. WlLh a lesser obsLrucLlon, blood ls shunLed from lefL-Lo-rlghL
and permlLLed Lo preferenLlally enLer Lhe pulmonary clrculaLlon, allowlng for oxygenaLlon. WlLh a
greaLer degree of obsLrucLlon, however, blood ls forced ln Lhe opposlLe dlrecLlon, away from Lhe
pulmonary clrculaLlon, lefLward across Lhe vSu and ulLlmaLely blood exlLs Lhe hearL before belng
oxygenaLed. aLlenLs wlll presenL wlLh dlfferlng degrees of ouLflow obsLrucLlon, and Lhls may
flucLuaLe LhroughouL Lhe course of Lhe lllness.
#

Cther Assoc|ated Abnorma||t|es:
Cf noLe, approxlmaLely 40 of paLlenLs wlLh 1Cl have addlLlonal congenlLal hearL defecLs. 1hls
lncludes frank pulmonlc sLenosls, rlghL aorLlc arch, abnormallLles of Lhe coronary arLerles, collaLeral
vessels supplylng Lhe pulmonary arLerles, paLenL ducLus arLerlosus or oLher defecLs. lL ls lmporLanL Lo
evaluaLe Lhe paLlenL for all assoclaLed hearL defecLs as Lhls may affecL surglcal lnLervenLlon or medlcal
Lherapy.

AddlLlonally, cllnlclans should recall LhaL 1Cl ls assoclaLed wlLh a number of geneLlc syndromes. 1hls
lncludes 1rlsomy 21 (uown Syndrome) as well as ulCeorge Syndrome and velocardlofaclal syndromes.

resent|ng S|gns and Symptoms:
1he Llmlng and feaLures of presenLaLlon depend on Lhe degree of rlghL venLrlcular ouLflow
obsLrucLlon. aLlenLs wlLh more severe obsLrucLlon wlll presenL earller due Lo cyanosls. 1hls may be
as early as Lhe lmmedlaLe newborn perlod. lor paLlenLs wlLh more moderaLe dlsease, Lhe presenLlng
slgn may be a hearL murmur (see below). llnally, for paLlenLs wlLh mlld dlsease, wlLh so-called plnk
LeLralogy" due Lo Lhe lack of cyanosls, Lhelr presenLaLlon may conslsL of slgns and sympLoms of
congesLlve hearL fallure due Lo Lhe lefL-Lo-rlghL shunLlng across Lhe vSu and subsequenL pulmonary
overclrculaLlon. ulLlmaLely, mosL paLlenLs wlLh mlld dlsease wlll become cyanoLlc as Lhe degree of
ouLflow obsLrucLlon lncreases over Llme.

C||n|ca| Ieatures:
aLlenLs wlLh 1Cl have a number of dlsLlngulshlng slgns and sympLoms LhaL can be found on physlcal
exam and elucldaLed wlLh a deLalled hlsLory.
Card|ac exam: MosL lmporLanLly, Lhe hearL murmur hearL ln 1Cl ls !"# due Lo Lhe vSu! lL ls ln
facL due Lo Lhe rlghL venLrlcular ouLflow obsLrucLlon. 1he murmur ls Lyplcally crescendo-
decrescendo wlLh a harsh sysLollc e[ecLlon quallLy, lL ls appreclaLed besL along Lhe lefL mld Lo
upper sLernal border wlLh radlaLlon posLerlorly. (8emember, an lsolaLed vSu murmur ls a
holosysLollc murmur, besL heard ln Lhe Lrlcuspld area. lL may radlaLe Lo Lhe rlghL lower sLernal
border.) aLlenLs wlll have a normal S1 and posslbly a slngle S2 due Lo dlmlnlshed 2
componenL.
Cyanos|s: lf paLlenLs are cyanoLlc, Lhls ls mosL commonly seen on Lhe llps or nall beds.
1et spe||s: 1eL spells are hypercyanoLlc eplsodes preclplLaLed by a sudden lncrease ln rlghL-Lo-
lefL shunLlng of blood. 1hey can be ellclLed by acLlvlLy (e.g. feedlng, crylng), or Lhey may occur
wlLhouL warnlng. 1he classlc descrlpLlon ls of a paLlenL who becomes cyanoLlc and Lhen
assumes a squaLLlng poslLlon Lo relleve Lhe cyanosls and hypoxla. SquaLLlng serves Lo lncrease
perlpheral vascular reslsLance, Lhereby lncreaslng Lhe pressure ln Lhe lefL hearL, and
subsequenLly forclng blood back lnLo Lhe pulmonary clrculaLlon.

Chest k-kay: As seen on Lhe chesL x-ray below, paLlenLs wlLh 1Cl have rlghL venLrlcular hyperLrophy,
a booL shaped" hearL and decreased pulmonary vascular marklngs.

L|ectrocard|ogram: Cn LkC, paLlenLs wlLh 1Cl wlll show lncreased rlghL venLrlcular forces as
evldenced by Lall 8 waves ln v1. AddlLlonally, rlghL aLrlal enlargemenL ls manlfesLed by promlnenL
waves ln v1 (*). 8lghL venLrlcular hyperLrophy ls demonsLraLed by a rlghLward devlaLed axls.

$
Lchocard|ogram: llndlngs on echocardlogram are Lhe malnsLay of dlagnosls ln 1Cl. Lchocardlogram
wlll demonsLraLe a venLrlcular sepLal defecL wlLh an overrldlng of Lhe aorLa, pulmonlc sLenosls and
rlghL venLrlcular hyperLrophy. 1hls consLellaLlon of flndlngs serves Lo cllnch Lhe dlagnosls of 1Cl. ln
abouL 23 of cases, paLlenLs wlll also have a rlghL aorLlc arch. As seen ln Lhe echocardlogram below,
Lhe blood (blue) from boLh Lhe rlghL venLrlcle and lefL venLrlcle enLers Lhe overrldlng aorLa across Lhe
vSu.





1reatment:
Cnce 1Cl ls dlagnosed, almosL all paLlenLs undergo correcLlve surglcal repalr wlLhln Lhe flrsL year of
llfe. ln Lhe lnLerlm perlod, prosLaglandln LreaLmenL may be necessary Lo malnLaln Lhe paLency of Lhe
ducLus arLerlosus. AddlLlonally, some paLlenLs may requlre dlgoxln or dlureLlcs lf slgns of hearL fallure
are presenL.

1reaLmenL of hypercyanoLlc spells ls dlrecLed Lowards lmprovlng pulmonary blood flow. 1hese
lnclude oxygen, knee/chesL poslLlon, morphlne, lnLravenous flulds, sodlum blcarbonaLe, beLa-
blockers or pharmacologlcally lncreaslng sysLemlc vascular reslsLance by admlnlsLraLlon of drugs, such
as phenylephrlne.

Cnce an lnfanL has developed progresslve cyanosls or has evldence of hypercyanoLlc spells, surglcal
correcLlon ls lndlcaLed. 1here are Lwo common surglcal procedures:

%
8|a|ock-1auss|g shunt creaLes a shunL beLween Lhe aorLa and Lhe pulmonary arLery uslng Lhe
subclavlan arLery. 1hls ls used as a palllaLlve procedure ln lnfanLs who are noL accepLable
candldaLes for lnLracardlac repalr due Lo premaLurlLy, hypoplasLlc pulmonary arLerles, or coronary
arLery anaLomy. aLlenLs wlll requlre addlLlonal surgery as Lhls ls noL a curaLlve surgery.




Intracard|ac repa|r ls Lhe deflnlLlve repalr for paLlenLs wlLh 1Cl and ls Lhe preferable procedure.
1hls conslsLs of paLch closure of Lhe venLrlcular sepLal defecL, and enlargemenL of Lhe 8vC1 wlLh
rellef of all sources of obsLrucLlon. ln some cases, Lhe pulmonary valve may need Lo be removed
Lo ellmlnaLe Lhe obsLrucLlon.



Cutcome and Comp||cat|ons:
Cverall, paLlenLs undergolng surglcal repalr for 1Cl have an excellenL prognosls wlLh a 20-year
survlval raLe of over 90. CompllcaLlons of surglcal repalr of 1Cl lnclude arrhyLhmlas parLlcularly
venLrlcular Lachycardla (v1), and aLrlal arrhyLhmlas. lurLhermore, paLlenLs may experlence rlghL
venLrlcular hyperLrophy or enlargemenL due Lo resldual pulmonary sLenosls and backward blood flow
lnLo Lhe rlghL venLrlcle. Long-Lerm compllcaLlons lnclude Lhe need for addlLlonal surgerles,
neurodevelopmenLal delay and myocardlal flbrosls. aLlenLs should be followed closely by a pedlaLrlc
cardlologlsL Lo monlLor for Lhese shorL-Lerm and long-Lerm compllcaLlons.
Intracard|ac repa|r for 1CI. 1he
venLrlcular sepLal defecL ls closed wlLh a
paLch. 1he rlghL venLrlcular ouLflow LracL
ls enlarged by openlng Lhe 8vC1 and
pulmonary valve, resecLlng Lhe
sublnfundlbular muscle bundles, and
paLchlng Lhe area open. ln some cases, a
condulL may be lnserLed Lo furLher open
Lhe 8vC1.

&

keferences:
1. up-Lo-daLe: aLhophyslology, cllnlcal feaLures and dlagnosls of 1eLralogy of lalloL"
2. $% '())!*+, )# +-. /0) 1"2" Copy number varlanLs ldenLlfy new Cenes and Locl ln lsolaLed,
Sporadlc 1eLralogy of lalloL." 1+#3() ')!)#456 41, 931 - 933 (2009).
3. 7 $4-8)(8+59: 0 ;+!!"!.resenLaLlon of CongenlLal PearL ulsease ln Lhe neonaLe and ?oung
lnfanL". edlaLrlcs ln 8evlew. vol 28, no. 4. (2007).
4. up-Lo-daLe: Cvervlew of Lhe ManagemenL of 1eLralogy of lalloL"
3. 1eLralogy of lalloL 8epalr", Chlldren's PosplLal of ennsylvannla,
hLLp://www.chop.edu/lmg/cardlac-cenLer/LeLralogy-of-falloL-repalr.
6. uv 8eddy. Case-8ased edlaLrlcs for Medlcal SLudenLs and 8esldenLs: CyanoLlc CongenlLal
PearL ulsease". hLLp://www.hawall.edu/medlclne/pedlaLrlcs/pedLexL/s07c03.hLml , uec 2002.
7. 1eLralogy of lalloL". naLlonwlde Chlldren's PosplLa, Columbus, CP.
hLLp://www.naLlonwldechlldrens.org/LeLralogy-falloL .