VENTRICULAR SEPTAL DEFECT

Etiology and Epidemiology

The ventricular septum is a complex structure that can e !ivi!e! into "our
components# The lar$est component is the muscular septum# The inlet or posterior
septum comprises endocardial cushion tissue# The suarterial or supracristal
septum comprises conotruncal tissue# The membranous septum is elo% the
aortic valve an! is relativel& small# VSDs occur %hen an& o" these components
"ails to !evelop normall& 'Fi$# ()*+(,# VSDs are the most common con$enital
heart !e"ect- accountin$ "or ./0 o" all con$enital heart !isease# Perimembranous
VSDs are the most common o" all VSDs '120,#
Althou$h the location o" the VSD is important pro$nosticall& an! in approach to
repair- ph&siolo$icall&- the amount o" "lo% crossin$ a VSD !epen!s on the si3e o"
the !e"ect an! the pulmonar& vascular resistance# Even lar$e VSDs are not
s&mptomatic at irth ecause the pulmonar& vascular resistance is normall&
elevate! at this time# As the pulmonar& vascular resistance normall& !ecreases over
the "irst 1 to 4 %ee5s o" li"e- ho%ever- the amount o" shunt increases- an!
s&mptoms ma& !evelop#
Clinical Manifestations
The si3e o" the VSD a""ects the clinical presentation# Small VSDs- %ith little shunt-
are o"ten as&mptomatic- other than a lou! murmur# 6o!erate to lar$e VSDs result
in pulmonar& overcirculation an! C7F- presentin$ as "ati$ue- !iaphoresis %ith
"ee!in$s- an! poor $ro%th# The t&pical ph&sical "in!in$ %ith a VSD is a
pansystolic murmur usuall& hear! est at the lo%er le"t sternal or!er# There ma&
e a thrill in the same re$ion# Lar$er shunts result in increase! "lo% across the
mitral valve causin$ a mid-diastolic murmur at the apex# The splittin$ o" S
.
an!
intensit& o" P
.
!epen! on the pulmonar& arter& pressure#
Ima$in$ Stu!ies
EC8 an! chest x+ra& "in!in$s !epen! on the si3e o" the VSD# Small VSDs ma&
have normal stu!ies# Lar$er VSDs cause volume overloa! to the le"t si!e o" the
heart resultin$ in EC8 "in!in$s o" le"t atrial an! ventricular enlar$ement an!
h&pertroph&# A chest ra!io$raph ma& reveal car!iome$al&- enlar$ement o" the le"t
ventricle- an! an increase in the pulmonar& arter& silhouette an! increase!
pulmonar& loo! "lo%# Pulmonar& h&pertension !ue to either increase! "lo% or
increase! pulmonar& vascular resistance ma& lea! to ri$ht ventricular enlar$ement
an! h&pertroph&#
Figure 143-1 Ventricular septal defect. AO, aorta; LA, left atrium; LV, left ventricle; PA, pulmonar
arter; !A, rig"t atrium; !V, rig"t ventricle.
pa$e 119
pa$e 12:
Treatment
Approximatel& */0 o" all VSDs close spontaneousl&# Small VSDs usuall& close
spontaneousl&; i" the& !o not close- sur$ical closure ma& not e re<uire!- ut
prophylactic antibiotics are nee!e! to prevent suacute acterial en!ocar!itis#
Initial treatment "or mo!erate to lar$e VSDs inclu!es diuretics an! digoxin#
Continue! poor $ro%th or pulmonar& h&pertension !espite therap& re<uires closure
o" the !e"ect# 6ost VSDs are close! in surgery- ut some VSDs- especiall&
muscular !e"ects- can e close! %ith devices place! at car!iac catheteri3ation#
VENTRICULAR SEPTAL DEFECT
Con$enital !e"ects o" the interventricular septum are the most common o" all
con$enital heart lesions- accountin$ "or approximatel& *: to 1:0 o" all "ull+term
patients %ith con$enital heart mal"ormations; this percenta$e is e<uivalent to three
to six o" ever& (::: live irths# This exclu!es the * to /0 o" neonates %ith tin&
muscular ventricular septal !e"ects that usuall& close %ithin the "irst &ear# A
ventricular septal !e"ect usuall& occurs as an isolate! anormalit& ut ma& e
associate! %ith other con$enital car!iac mal"ormations# In vie% o" the pattern o"
loo! "lo% in the heart an! $reat vessels o" a "etus %ith a ventricular septal !e"ect-
%ith !iversion o" loo! "rom the aortic isthmus- narro%in$ o" the aortic isthmus or
true coarctation shoul! al%a&s e consi!ere! %hen an in"ant %ith a ventricular
septal !e"ect has severe heart "ailure# Ventricular septal !e"ects are also associate!
%ith other "orms o" con$enital car!iac mal"ormations# The& are common in
correcte! transposition o" the $reat arteries- in %hich s&stemic atrioventricular
valve re$ur$itation an! complete heart loc5 are also "re<uent# The& are al%a&s
present in a truncus arteriosus communis an! in a !oule+outlet ri$ht ventricle that-
in the asence o" pulmonic stenosis- has the clinical "eatures o" an isolate!
ventricular septal !e"ect#
An isolate! ventricular septal !e"ect ma& occur an&%here in the interventricular
septum# At irth- aout 9:0 o" these !e"ects occur in the muscular septum- ut
ecause these usuall& close spontaneousl& %ithin 1 to (. months o" irth- the
memranous septum ecomes the most common site a"ter in"anc&# De"ects var& in
si3e "rom minute openin$s to almost complete asence o" the interventricular
septum 'a common ventricle,# 6ost muscular 'except multiple- so+calle! =>?S%iss
cheese=> , an! perimemranous !e"ects have a hi$h chance o" spontaneous
closure- unli5e lar$e inlet sutricuspi! !e"ects- suarterial outlet !e"ects 'suaortic
as in tetralo$& o" Fallot or lar$e supulmonic as in =>?supracristal=> !e"ects,- or
!oul& committe! suarterial ventricular septal !e"ects# Spontaneous partial
closure o" supulmonic or !oul& committe! suarterial !e"ects o"ten involves
prolapse o" the aortic valve cusp into the !e"ect %ith !evelopment o" aortic
re$ur$itation; this "orm o" !e"ect occurs in /0 o" %hites ut in aout */0 o"
@apanese an! Chinese# Spontaneous closure o" perimemranous !e"ects o"ten is
associate! %ith ventricular septal pseu!oaneur&sm "ormation; earl& !etection o"
such an aneur&sm in!icates a hi$h li5elihoo! o" closure#
Clinical 6ani"estations
The pathoph&siolo$& o" le"t+to+ri$ht shuntin$ throu$h a ventricular septal !e"ect
involves le"t an! ri$ht ventricular volume overloa!s ecause the extra volume o"
the le"t+to+ri$ht shunt passes into the ri$ht ventricle e"ore passin$ into the
pulmonar& arter&#
The s&stolic murmur o" a ventricular septal !e"ect is $enerall& harsh an! o" the
plateau t&pe 'Fi$# ..+*/,# Aith a small shunt the murmur ma& e hear! onl& in
earl& s&stole; as the shunt increases- ho%ever- the murmur ecomes holos&stolic
an! en!s at the aortic component o" the secon! soun!# The intensit& o" the murmur
is not necessaril& relate! to the si3e o" the !e"ect- an! lou! murmurs ma& e hear!
%ith hemo!&namicall& insi$ni"icant !e"ects 'mala!ie !e Ro$er,# Lou! murmurs
are usuall& associate! %ith s&stolic thrills# The murmur is $enerall& hear! est at
the lo%er le"t sternal or!er- an! it ra!iates throu$hout the precor!ium- ut
maximall& to%ar! the suxiphoi! area# 7o%ever- %ith a hi$h supulmonic
ventricular septal !e"ect- the maximal intensit& ma& e at the mi!!le to upper le"t
sternal or!er- %ith ra!iation to the ri$ht o" the sternum# Bccasionall& the murmur
o" a ver& small !e"ect has a crescen!o+!ecrescen!o hi$h+pitche! <ualit& an! must
e !istin$uishe! "rom an innocent murmur# Ahen the le"t+to+ri$ht shunt is lar$e
enou$h to pro!uce a ratio o" pulmonar& "lo% to s&stemic "lo% hi$her than .C(- a
mi!!iastolic rumlin$ murmur ma& e au!ile at an! insi!e the apex- an! a thir!
soun! ma& appear# As the shunt increases- so !oes precor!ial activit&#
I" the !e"ect is small or me!ium in si3e- mar5e! pulmonar& h&pertension is asent-
an! the pulmonic component o" the secon! soun! is either o" normal or minimall&
increase! intensit&# I" there is pulmonar& h&pertension- the pulmonic component o"
the secon! soun! is accentuate!# Aith a small or mo!erate+si3e! shunt- the chest
roent$eno$ram sho%s no or sli$ht increase in le"t ventricular an! le"t atrial si3e an!
pulmonar& vascular mar5in$s 'Fi$# ..+**A,# As the volume o" shuntin$ increases-
car!iac enlar$ement an! pulmonar& vascularit& also increase 'Fi$# ..+**D,- an!
pulmonar& e!ema ma& e seen# Decause the shunt is at the ventricular level- the
ascen!in$ aorta is not !ilate!# The electrocar!io$ram is normal i" the !e"ect is
small; it sho%s increasin$ le"t ventricular h&pertroph& as the le"t+to+ri$ht shunt
increases- an! %hen there is much ri$ht ventricular h&pertension- ri$ht ventricular
h&pertroph& is a!!e!# A t%o+!imensional echocar!io$ram can e use! to sho% the
si3e an! position o" the ventricular septal !e"ect 'Fi$# ..+*/,# Doppler %ith
ima$in$ techni<ues can locali3e the !e"ect & !etectin$ !isture! "lo% in the ri$ht
ventricle- an! color Doppler "lo% mappin$ can !emonstrate sin$le or even multiple
!e"ects# In the most severe "orm o" ventricular septal !e"ect- sin$le ventricle
complex- ma$netic resonance ima$in$ ma& help to !elineate the anatom&#
I" there is a lar$e le"t+to+ri$ht shunt- there are clinical si$ns an! s&mptoms o"
volume overloa! an! car!iac "ailure# In "ull+term in"ants this occurs most
commonl& et%een . an! 1 months o" a$e- ut it ma& occur earlier in premature
in"ants# Althou$h the le"t+to+ri$ht shunt shoul! $enerall& e $reatest et%een . an!
* months o" a$e- %hen pulmonar& vascular resistance has !roppe! to its lo%est
level- con$estive heart "ailure occasionall& occurs in term in"ants un!er ( month o"
a$e# It is in these in"ants that the ventricular septal !e"ect is o"ten associate! %ith
anemia- si$ni"icant le"t+to+ri$ht shunt at the atrial or !uctus arteriosus levels- or
coarctation o" the aorta# In a!!ition- in"ants %ho have !oule+outlet ri$ht ventricle
%ith ventricular septal !e"ect are at ris5 o" !evelopin$ con$estive "ailure earlier
than expecte!# This is proal& ecause in "etal li"e the pulmonar& vasculature is
per"use! %ith loo! that has a hi$her ox&$en tension than normal- an! thus- there
ma& e unusuall& lo% pulmonar& vascular resistance a"ter irth#
6ana$ement
Isolate! ventricular septal !e"ects are the most common t&pes o" con$enital heart
!isease- so that all pe!iatricians nee! to 5no% ho% the& can e mana$e!# The
!ecision tree is sho%n in Tale ..+4 an! the circle! numers in the tale are
!iscusse! elo%#
TADLE ..+4 DECISIBN TREE FBR 6ANA8E6ENT BF VSD
Aout * to /0 o" all liveorn aies have small muscular ventricular septal !e"ects- most o"
%hich close spontaneousl& %ithin the next 1 to (. months# It is neither practical nor reasonale
to otain echocar!io$rams in all o" them- provi!e! there appears to e nothin$ more than a small
ventricular septal !e"ect# Note that a neonate %ith a lar$e ventricular septal !e"ect usuall& has no
murmur in the ne%orn nurser&; a lar$e !e"ect %ith a small shunt across it ecause o" a hi$h
pulmonar& vascular resistance pro!uces little turulence# In "act- a t&pical ventricular septal
!e"ect murmur hear! in the ne%orn nurser& is almost certainl& cause! & a small !e"ect#
Decause !e"ects in the perimemranous or muscular portions o" the septum have a hi$h
inci!ence o" spontaneous closure- it is appropriate to treat them me!icall& "or up to ( &ear in the
hope that sur$er& can e averte!# Several !i""erent mechanisms ma& e responsile "or
spontaneous closure o" a ventricular septal !e"ect# These inclu!e $ro%th an! h&pertroph& o" the
muscular portion o" the !e"ect- "ormation o" a memranous !iaphra$m '"rom intimal
proli"eration,- apposition o" the septal lea"let o" the tricuspi! valve a$ainst the !e"ect- or prolapse
o" the aortic valve cusp- %hich can lea! to aortic re$ur$itation# Ahen the !e"ect is $ettin$
smaller- the s&stolic murmur ma& "irst increase in intensit&- ut %ith pro$ressive !ecrease in si3e-
the murmur ecomes so"ter- an! %hen the !e"ect is extremel& small- the murmur ecomes
shorter an! ac<uires a crescen!o+!ecrescen!o hi$h+pitche! %histlin$ <ualit& that o"ten porten!s
complete closure# Spontaneous closure ma& eventuall& occur in up to 2:0 o" patients- an! man&
o" these closures occur & * &ears o" a$e# In a "urther ./0 the !e"ect ecomes smaller ut ma&
not close completel&; ho%ever- the hemo!&namic e""ects are si$ni"icantl& re!uce!# Decause o"
these statistics- i" the !e"ect seems to e ecomin$ smaller- sur$ical correction shoul! e !ela&e!
in the hope o" spontaneous closure#
Tale ..+4 also sho%s reasons "or consi!erin$ earl& sur$er& %ithout %aitin$ "or the !e"ect to
close spontaneousl&#
Chil!ren %ith trisom& .( appear to $et earl& pulmonar& vascular !isease- so that sur$er& shoul!
not e !e"erre! i" the !e"ect remains lar$e#
Severe social prolems are rare reasons "or earl& sur$er&# These inclu!e inailit& o" the parents to
rin$ the chil! "or "re<uent me!ical supervision ecause o" !istance "rom the !octor or
ne$li$ence# In a!!ition- some o" these in"ants are ver& !i""icult to mana$e# The& re<uire .+hourl&
"ee!s an! consume so much attention that other chil!ren in the "amil& are ne$lecte!; marria$es
ma& even e threatene!#
Althou$h all in"ants %ith lar$e ventricular septal !e"ects $ro% poorl&- %ith %ei$hts usuall&
elo% the "i"th percentile an! hei$hts elo% the (:th percentile- catch+up $ro%th usuall& occurs
once the !e"ect is close! 'spontaneousl& or a"ter sur$er&,# In most o" these in"ants the $ro%th o"
hea! circum"erence is normal- ut in a "e% hea! $ro%th "alls o"" rapi!l& & * or ) months o" a$e#
7ea! $ro%th %ill return to normal i" the !e"ect is close! at this time ut "ails to catch up i"
sur$er& is !ela&e! more than ( to . &ears#
I" the patient !oes not nee! earl& sur$er& "or one o" the reasons mentione! aove- it is
appropriate to %ait "or aout (. months in the hope that the !e"ect %ill close or ecome smaller#
I" the shunt remains lar$e a"ter ( &ear o" a$e- there has to e a reason "or not closin$ a lar$e
ventricular septal !e"ect ecause o" the increasin$ ris5 o" irreversile pulmonar& vascular
!isease# D& . &ears o" a$e- aout **0 o" these chil!ren have irreversile pulmonar& vascular
!isease#
I" the le"t+to+ri$ht shunt ecomes smaller- there %ill e clinical improvement- mani"este! &
!ecreasin$ car!iac h&peractivit& an! heart si3e- !iminishin$ intensit& an! eventual !isappearance
o" the mi!!iastolic murmur- !ecreasin$ intensit& an! chan$in$ character o" the s&stolic murmur-
lessenin$ an! then !isappearance o" tach&pnea- improve! appetite an! $ro%th- an! lessenin$
!eman! "or !ru$ therap&# It is crucial not to e misle! into thin5in$ that this improvement
necessaril& in!icates a smaller VSD ecause it mi$ht also re"lect the !evelopment o" pulmonar&
vascular !isease or- less o"ten- in"un!iular stenosis# Echocar!io$raph& an! perhaps car!iac
catheteri3ation are man!ator& to ma5e !ecisions aout "uture mana$ement at this sta$e#
In most patients %ith a ventricular septal !e"ect- severe pulmonar& vascular !isease !oes not
occur until a"ter ( &ear o" a$e# 7o%ever- it can occur earlier- an! this %ill e in!icate! & a
!ecrease in the le"t+to+ri$ht shunt- a "in!in$ that in!icates the nee! "or "urther stu!ies# Aith
ostructive pulmonar& vascular !isease there is o"ten little or no le"t+to+ri$ht shuntin$ an! no
si$ni"icant ri$ht+to+le"t shuntin$ "or several &ears# 7o%ever- $enerall& & / to 1 &ears o" a$e-
there is increasin$ c&anosis- particularl& !urin$ exercise 'Eisenmen$er s&n!rome,#
As severe pulmonar& h&pertension !evelops- the main pulmonar& arter& se$ment ecomes
mar5e!l& !ilate!- an! the peripheral pulmonar& vascular mar5in$s on the chest roent$eno$ram
!ecrease 'Fi$# ..+*1,# Bstructive pulmonar& vascular !isease ma& pro$ress rapi!l& in some
in"ants an! ecome irreversile & the a$e o" (. to (4 months; this shoul! never e allo%e! to
occur# An& !out as to the cause o" an& chan$e in clinical status shoul! e investi$ate! & t%o+
!imensional echocar!io$raph& %ith Doppler or i" necessar& & car!iac catheteri3ation- an! there
is $oo! reason to consi!er routinel& recatheteri3in$ chil!ren %ith lar$e ventricular septal !e"ects
at 9 to (. months o" a$e to !etect earl& pulmonar& vascular !isease that is not clinicall& apparent#
FI8URE ..+*1 Chest roent$eno$ram in a &oun$ $irl %ith a ventricular septal !e"ect an!
pulmonar& vascular !isease 'Eisenmen$er s&n!rome,# 6ar5e! !ilatation o" the main pulmonar&
arter& an! !ecrease! peripheral vascular mar5in$s are sho%n#
In"un!iular h&pertroph& $enerall& !evelops "airl& rapi!l&- an! there ma& e onl& a short perio!
in %hich the le"t+to+ri$ht shuntin$ is present# Soon therea"ter there %ill e c&anosis- initiall& on
exercise onl& ut then persistentl&- an! the "eatures o" the tetralo$& o" Fallot can !evelop# In
those in"ants %ho !evelop ri$ht ventricular out"lo% ostruction- the inci!ence o" spontaneous
closure o" a ventricular septal !e"ect is lo%; a ri$ht+to+le"t shunt can e "urther complicate! &
cereral thromosis- emolism- or ascess- an! the !evelopment o" in"un!iular h&pertroph&
lea!s to more !i""icult sur$ical repair- so that closure o" the !e"ect an! in"un!iular resection- i"
necessar&- shoul! e consi!ere! earl&#
Primar& sur$ical closure o" the !e"ects can e !one %ith ver& lo% mortalit&# I" primar& closure is
not "easile ecause o" multiple muscular !e"ects or other complicatin$ "actors- then an!in$ the
pulmonar& arter& %ill !ecrease the le"t+to+ri$ht shunt- re!uce pulmonar& arterial loo! "lo% an!
pressure- an! relieve con$estive heart "ailure# Dan!in$ has its o%n complications- an! removal o"
the an! %hen the !e"ect is close! later a!!s to the mortalit& o" the proce!ure#
Conseuence and Complications
In several in"ants %ith si$ni"icant re!uctions in le"t+to+ri$ht shunts cause! & spontaneous
closin$ o" the ventricular septal !e"ects- mi!+ to late s&stolic clic5s have ecome au!ile# In
these chil!ren- aneur&smal !ilatation o" the thin memranous septum or tricuspi! valve tissue
that has $ro%n to close the !e"ect has occurre!- %ith ul$in$ o" pseu!oaneur&sm into the ri$ht
ventricle# A small openin$ o"ten present at the apex o" the pseu!oaneur&sm allo%s a small le"t+
to+ri$ht shunt# Normall& the !e"ect closes- an! the pseu!oaneur&sm slo%l& shrin5s- ut rarel& it
ma& enlar$e pro$ressivel&# These pseu!oaneur&sms can e !emonstrate! & echocar!io$raph&#
A numer o" in"ants have !evelope! pro$ressive aortic insu""icienc& associate! %ith ventricular
septal !e"ect- particularl& i" it is suarterial# There is prolapse o" an aortic valve lea"let %ith
!ilatation o" the aortic valve sinus- an! rupture o" the aortic sinus or cusp ma& occur# The
!evelopment o" insu""icienc& has een attriute! to stress on the unsupporte! aortic valve cusp
an! perhaps suction on it & the Eet o" the shunt passin$ throu$h the !e"ect# Even %ith a small
ventricular septal !e"ect- or one sho%in$ evi!ence o" closure- aortic insu""icienc& re<uires
sur$ical closure o" the !e"ect to prevent "urther prolapse# It ma& in "act e pru!ent to close
suarterial ventricular septal !e"ects even e"ore evi!ence o" aortic valve cusp involvement is
apparent#
In"ective en!ocar!itis is an a!!itional prolem; rarel&- it can occur even a"ter spontaneous
closure o" the !e"ect# I" in"ective en!ocar!itis involves the tricuspi! lea"let sealin$ the ventricular
septal !e"ect- rupture ma& occur an! pro!uce a !irect le"t+ventricular+to+ri$ht+atrial
communication# Antiiotic proph&laxis shoul! there"ore e continue! in those chil!ren %ith
small !e"ects; most pe!iatric car!iolo$ists !o not a!vocate proph&laxis once complete
spontaneous closure has een !emonstrate!#