3 Incidence Most common congenital heart defect in children Incidence is 8 per 1000 live birthsEcho studies- 5 to 50 per 1,000 newbornsOoshima A et al. Cardiology 1995;86:No sex preference , except in subarterial defect
4 Racial variation Muscular defects 10% in the west 5% in western ASIANWESTERNDoubly commited subarterialMultiple ventricular septal defects are rareDoubly-commited subarterial defect requiring repair is 30%Muscular defects10% in the west5% in westernFerreira Martins JD et al.Cardiol Young 2000; 10: 464–73.
5 Ventricular Septal Defect Pathologic anatomy of IVS
6 Ventricular Septal Defect Soto et al classification of VSDPerimembranous (membranous/ infracristal )-70-80%Muscular- 5-20%Central- mid muscularApicalMarginal- along RV septal junctionSwiss cheese septum – multiple defectsInlet/ AV canal type-5-8%Supracrital (Conal/ infundibular/subpulmonary/doubly committed subarterial)- 5-7%Benigno soto et al. Br HeartJ 1980; 43:
7 Hemodynamic classification Restrictive- less than one third of aortic rootLVSP > > RVSPPulm /Aortic systolic pressure ratio < 0.3Qp / Qs<1.4:1Moderately restrictiveRVSP high, but less than LVSPQp/Qs 1.4:2.2Non restrictive - The size of aortic orificeRVSP , LVSP, PA Aortic systolic pressures are equalQp/Qs >2.2Flow determined by PVR
8 Malalignment type of VSD Anterior more common than posteriorUsually involves the infundibular septumOccurs as if there is a door that moves round on a hinge
9 Natural History of VSD The outcome and natural history influenced by Position & SizeNumber of defectsAnatomic structures in the vicinity of the defectAssociation of other malformationAge at which the defect is recognizedSex of the patient
10 Natural History of VSD Cardiac failure Spontaneous diminution in size or closureRight or Left ventricular outflow tract obstructionAortic regurgitationPulmonary vascular obstructive diseaseInfective endocarditis
11 Cardiac failure Rare in small VSD as size limits the L-R shunt In large VSD the relative resistances of the systemic and pulmonary circulations regulate flowShunt occurs mainly in systoleShunt directly to PAEnlargement of LA, LV,PA
12 Cardiac failureAfter birth decline in PVR to adult level by 7to 10 daysIn large VSDs, the rate of this process is delayedSmall VSD the shunt is small & remain asymptomaticModerate sized VSD symptoms by 1to 6 monthsRarely, adults present with new exercise intolerance.)Rudolph AM, et al.Pediatrics 1965;36:
13 Cardiac failure Large VSD congestive heart failure in first few weeks Risk for recurrent pulmonary infection highIf survives without therapy - pulmonary vascular disease develop in the first few years of lifeSymptoms “get better” as Qp/Qs returns to 1:1Intervention at this time - a shorter life expectancy than if the defect were left openFuster V, et al.Cardiovasc Clin. 1980;10:161–197.
14 Spontaneous diminution in size Occurs in both perimembranous and muscularClosure is documented in the fetus & in the adultVSD diagnosed in the fetus - 46% closed in utero & 23.1% in the first year, while 30.8% remained patentIn this study 15.8% of defects < 3 mm remained patent in comparison to 71.4% > 3mm at 1yrNir A et al.Pediatr Cardiol 1990; 11: 208–10.
15 Spontaneous diminution in size More frequent in <10 yrs of ageIsolated VSD ( 124 pts) - 34% at 1 yr & 67% at 5 yrFemale predominanceDecreases substantially after 1 year of ageMehta AV et al. Tenn Med 2000; 93: 136–8.Farina MA et al . J Pediatr 1978; 93: 1065–6.Moe DG et al. Am J Cardiol 1987; 60: 674–8.
16 Spontaneous diminution in size Rare in malaligned VSDIn outlet VSD closure only in 4%All of the defects closed were initially < 4 mmTomita H et al. Jpn Circ J 2001; 65: 364–6
17 Mechanisms of spontaneous closure Different for perimembranous and muscularPerimembranousReduplication of tricuspid valve tissueProgressive adherence of the septal leaflet of the tricuspid valve about the margins of the VSDAneurysmal transformation of the membranous septum (appearance on angiography)Early systolic click & late crescendo systolic murmurAnderson RH et al . Am J Cardiol 1983; 52: 341–5.Freedom et al. Circulation 1974; 49: 375–84.
18 Mechanisms of spontaneous closure Muscular- direct apposition of muscular bordersLarge subarterial defect don’t closeClosure of a perimembranous defect by adhesion of the tricuspid leaflets to the defect margin.Closure of a small muscular defect by a fibrous tissue plug.Closure of a muscular defect by hypertrophied muscle bundles in the right ventricleClosure of a defect in subaortic location by adhesion of the prolapsed aortic valve cusp
19 Right ventricular outflow tract obstruction Incidence 3% to 7%.Mechanism:-Hypertrophy of malaligned infundibular septumHypertrophy of right ventricular muscle bundlesProlapsing aortic valve leafletHigh incidence inRight sided aortic archHorizontal RVOTNadas AS et al . Circulation 1977; 56(No.2, Suppl. I): 1–87.Corone P et al. Circulation 1977; 55: 908–15.Pongiglione G et al . Am J Cardiol 1982; 50: 776–80.Varghese PJ et al . Br Heart J 1970; 32: 537–46.Tyrrell MJ et al. Circulation 1970; 41 & 42(Suppl. III): 113.
20 Aortic valve prolapseVSD with direct contact with the aortic valve are most prone to develop AVPAll the perimembranous defectsAll doubly committed juxtaarterial defectsMost of muscular outlet defectsCharacteristic deformity of aortic cusp-nadir of the cusp is elongated
21 Aortic valve prolapse RCC (60-70%) , NCC (10-15%) , both in 10-20% Non-coronary cusp prolapse in perimembranous typeLeft coronary cusp prolapse extremely rareAR may be due to incompetent bicuspid aortic valveRarely prolapsed valve cusp may perforate
22 Aortic valve prolapse Pathogenesis Anatomic factors for normal competenceLeaflet support by diastolic appositionInfundibular support from belowIntrinsic structural abnormalityProgressive discontinuity between aortic valve annulus & media
23 Aortic valve prolapse Pathogenesis Hemodynamic factor ‘’Venturi effect’’VSD is restrictive, Qp/Qs<2 , absence of PAHKomai H et al.Ann Thorac Surg 64: , 1997
24 Natural history of Aortic valve prolapse Unknown exact prevalence (2% to 7%)Rare before 2 yearsMore severe - additional volume loadAneurysm of sinuses of Valsalva may developNadas AS et al . Circulation 1977; 56(No.2, Suppl. I): 1–87.
25 VSD with AR- Indian scenario 362 Patients. 37 (10.2%) had ARMean age 13.4 years ( 2-45),male to female ratio 5:131 (84%) had infracristal & 6 (16%) supracristal VSDInfracristal VSD-RCC prolapse in 14 (48%) &NCC in 12 (41%) and both RCC and NCC in 3 (11%)Supracristal VSD - RCC prolapse in 5 (83%),NCC in 1Two patients the AR was due to bicuspid aortic valvePA pressure normal in 26(70.2%), L-R shunt 1.5:1 or less in 23 (62%)No relationship- severity of AR & location of VSDSomanath HS et al. Indian Heart J Mar-Apr;42(2):113-6.
26 Intervention in VSD with AVP Indicated for both perimembranous and subarterial VSDs when more than trivial ARSubarterial VSDs >5 mm - closed regardless of AVPRestrictive perimembranous VSD with AVP but without AI, surgery indications are less clearFollow up regularlySurgery is indicated only if AI developsElgamal MA et al . Ann Thorac Surg 68: , 1999Lun K et al. Am J Cardiol 87: , 2001Gabriel HM et al. J Am Coll Cardiol 39: , 2002
27 Left ventricular outflow tract obstruction Usually above the ventricular septal defectEtiology:-Progression of the pre-existing lesionAcquiredTwo types:-MuscularFibromuscular
28 Left ventricular outflow tract obstruction Three major structures are responsiblePosteriorly malaligned outlet septumSeptal deviation ( anteroseptal twist)Muscular protrusion of the left ventricular aspect of the septumAnterolateral muscle bundleMuscular protrusion between LCC & AML- present normally in 40%(Very rarely “Mitral arcade”)Careful echo assessment of the LVOT should be performed in all cases of VSD before surgeryMoene RJ et al. Pediatr Cardiol 1982;2: 107–14.
29 Pulmonary vascular obstructive disease Incidence - 5% to 22%Rare in small & Moderate-size VSDsDown syndrome – early development of PAHNo overall sex predilectionKeith JD et al. Heart Disease in Infancy and Childhood. 1978: 320–79.
30 Pulmonary vascular obstructive disease Survival rate for patients with VSD by pulmonary artery systolic pressure42 men and 37 women, 18 to 59 years (mean 34 yrs)67 patients treated medically and 12 surgicallyAll patients were followed up for 1 month to 25 yrs ( mean 9yrs)The solid line indicates a pressure less than 50 mm Hg (n = 36)Dashed line indicates a pressure of 50 mm Hg or greater (n = 17)Ellis JH 4th et al . Am Heart J. 1987;114:
31 Pulmonary vascular obstruction Eisenmenger complex, develops in 10% to 15%most commonly in the 2 nd & 3rddecades of lifecommon causes of death "sudden" or "unknown“Development of pulmonary vascular disease after surgery depends on age at procedure is doneInfants with VSD and increased pulmonary artery pressure - repair between 3 and 12 months
32 Infective endocarditis 18.7 per person-years in non operated casesOperated VSD 7.3 per person-yearsHigher in small defect & lower during childhoodPatients with a proven episode of endocarditis are considered at increased risk for recurrent infection so surgical closure may be recommendedGersony WM et al.Circulation 1993; 87(Suppl. I):I-121–I-126.
33 Arrhythmias Patients with VSD have a high incidence of arrhythmia Ventricular tachycardias in 5.7%Sudden death is 4.0%SVT, mostly AF, is also prevalentAge and pulmonary artery pressure are the best predictors of arrhythmiasThe odds ratio of serious arrhythmias increases1.51 for every 10-year increase in age1.49 for 10mm Hg increase in mean PA pressureWolfe RR et al. Circulation. 1993;87:I89-101
34 Improvement of symptoms in VSD Closing defect - soft S2, high frequency & shorter murmurIncreasing PVR : increased RV pulsations ,S2 loud & narrow splitInfundibular hypertrophy & resulting decreased L to R shunt : S2 decreases in intensity ,crescendo-decrescendo systolic murmur in the ULSB
35 Indications for Operation Heart failure not controlled by medical therapy VSD should be operated with in 6 month of lifeQp/Qs is 2 or more surgical closure needed regardless of PA pressureVSD with PVR more than 4 unit during monthsVSD with elevated PVR first seen after infancyModerate VSD with no size change in childhood
36 Postoperative Sequelae Right bundle branch block33.3% undergoing transatrial repair78.9% to 11% in repair via a right ventricular incisionTranspulmonary approach has the lowest incidenceComplete heart block in 1 to 2%Pulmonary hypertension in (4% )Sinus node dysfunction (4%)Progressive aortic valve insufficiency (16%)Abe T et al . Jpn Circ J 1983; 47: 328–35.Roos-Hesselin JW et al. Eur Heart J 2004;25:
38 Introduction Incidence of isolated PDA in term infants - 1 in 2,000 Female predominance - 3:1High incidence- Prematurity, Maternal rubellaGenetic inheritance- Autosomal recessive with incomplete penetrance
39 Natural History of PDA Congestive heart failure Infective endarteritis Pulmonary vascular diseaseAneurysmal formationThromboembolismCalcification
40 Congestive heart failure CHF resulting from an isolated PDA either develops in infancy or during adult lifeHF in infancy usually occurs before of 3 mths of ageInitially left heart failure, later right heart failureGood response to drugs initially, but is not maintained
41 Infective endarteritis Major cause of death in earlier eraIncidence % to 1.0% per annumVegetations usually found at the PA end of the ductMay cause recurrent pulmonary embolismInfection may also cause a ductal aneurysmCosh JA. Br Heart J 1957; 19: 13–22.
42 Pulmonary vascular obstructive disease No definite data on incidence“Differential cyanosis”Eisenmenger patients do not tolerate PDA closure
43 Aneurysm of the duct Described either pre- or postnatally Likely develops in the third trimester due to abnormal intimal cushion formation or elastin expressionIncidence varies from 1.5% to 8.8%Dyamenahalli U et al. J Am Coll Cardiol 2000; 36: 262–9.Jan SL et al. J Am Coll Cardiol 2002; 16: 342–7.
44 Aneurysm of the duct Complications ThromboembolismDissectionRuptureTracheal compressionLeft recurrent laryngeal nerve palsyPulmonary artery obstructionRegression can occur, presumably due to thrombosis and subsequent organization
45 Treatment of PDAAs many ducts will eventually close in premature infants approach to treatment is different - preterm infant Vs mature, childBeyond infancy, closure reported in 0.6% per yearMedical therapyTreatment of Heart failureDuctal closure with drugsSurgical TherapyCampbell M et al.Heart 1968;30:4–13.
46 Ductal closure with drugs IndomethacinRates of success varying between 18% to 89%Major determinants of success were gestational and postnatal ageLess chance of closure-Extreme prematurity, very low birth weight, and advanced postnatal ageThe rate of re-opening is highest in the extreme premature( 1/3) & less than 1/10 those weighing 1500 gMahony et al. N Engl J Med 1982;306:
47 Ductal closure with drugs IbuprofenComparable rate of ductal closure to IndomethacinLess effect on renal functionIncreased incidence of Pulmonary hypertensionGournay V et al. Lancet 2004;364:
48 Intervention in PDACoils closure for <3 mm, >97% success, zero mortalityLarger PDAs - specialized devices>98% complete closure rate at 6 months
49 Indications for intervention in PDA Symptomatic moderate or large PDA with L to R shuntPrior history endarteritis [class1]Reasonable in small L to R shunt with normal-sized heart chambers when the PDA is audible by auscultation[IIa]May be considered in bidirectional PDA shunt due to PAH and obstructive pulmonary vascular disease but reversible to pure L to R shunting with pulmonary vasodilators [IIb]
51 Introduction Incidence is 1 child per 1,500 live births More frequent in females than males by about 2:1Most ASDs occur sporadically; however, a few families have the defect as a genetic abnormality.Mutation in-TBX5, NKX2.5 , GATA4, Myosin heavy chain 6Samanek M et al. Pediatr Cardiol1999;20:411–7
52 Natural History of ASD The natural history depends on Size of the defectRt. & Lt. ventricular diastolic compliancePulmonary-to-systemic vascular resistance
53 Natural History of ASDHemodynamic/anatomic abnormalities resulting from a secundum atrial septal defect includeRight ventricular and atrial volume overloadPulmonary vascular obstructive diseaseTricuspid valve and/or pulmonary valve regurgitationSupraventricular tachyarrhythmias
54 Natural historyShunt direction & magnitude are variable and age dependentIn fetal life, RV noncompliance, a result of high pulmonary vascular resistance, allows nearly unidirectional right-to-left flow at the atrial levelImmediately after birth, with RV compliance comparable to that of the LV, there may be little net shunting through ASDWith the physiological fall in pulmonary vascular resistance, the RV thins, compliance increases, left-to-right shunt develops
55 Natural history With similarly sized ASDs, adults have larger shunts .)Four common clinical presentations of ASD in adultProgressive shortness of breath with exertionPulmonary vascular obstructive diseaseAtrial arrhythmiastroke or other systemic ischemic event
56 Natural history Most infants with ASDs are asymptomatic They may present at 6 to 8 weeks of age with a soft systolic ejection murmur and possibly a fixed and widely split S2CHF rare in the first decades of life but it can become common once the patient is older than 40 yrs
57 Atrial arrhythmiaAtrial arrhythmia may be the first presenting sign (13% in older than 40 & 52% in older than 60 yrs of age)Prevention of Atrial arrhythmia is one of the reasons for repairing ASD in young asymptomatic patients(Silversides CK et al. Heart. 2004;90:1194 –1198.)Subsequent development of AF may depend more on the patient’s age at intervention and may occur despite surgery in patients > 25 years of ageSt. John Sutton MG,et al. Circulation 1981;64:Murphy JG, et al. N Engl J Med. 1990;323:1645–1650
58 Pulmonary vascular obstruction Uncommon in ASDIncidence is 5% to 10% of untreated ASDsPredominantly in femalesSinus venosus ASDs have higher pulmonary artery pressures & resistances than patients with secundumVogel M et al. Heart 1999; 82: 30–3.
59 Pulmonary vascular obstructive disease Craig and Selzer in studied 128 adult patientsSignificant PAH developed in 22% of the seriesThis complication usually develops when the patient is between 20 and 40 years of ageCherian et al studied 709 pts.of isolated ASDPASP was > 50 mmHg in 17%PAH was present in 13% of patients under 10 yrs14% of those aged 11 to 20 yearsEisenmenger syndrome 9%Craig RJ et al. Circulation 1968; 37: 805–15.Cherian G et al. Am Heart J 1983; 105: 952–7.
60 Spontaneous Closure Spontaneous closure most likely in ASDs <7 to 8 mmYounger age at diagnosisA review of 101 infants -mean age of diagnosis 26 days average follow-up of 9 months.Spontaneous closure in all 32 ASDs <3 mm87% of 3- to 5-mm ASDs80% of 5- to 8-mm ASDsNone of 4 infants with defects >8 mmRadzik D, et al. J Am Coll Cardiol. 1993;22:
61 Spontaneous ClosureA follow up of 84 children for 4 years showed a spontaneous closure or decreased size in89% with a 4-mm ASD79% with a 5- to 6-mm defect7% with a defect >6 mmHelgason H, et al. Pediatr Cardiol.1999;20:Even infants with CHF can have spontaneous reduction in the size of the ASD years after the diagnosisOccasionally, spontaneous closure will occur as late as 16 years.
62 Indications for Intervention Evidence of Rt. sided cardiac volume loading, Qp:Qs > 1.5:1Symptomatic patients (principally exercise related)PVR < 7 WU – closure is usually well toleratedNeed to be mindful of elevated LVEPDPts may need diuretic therapy after closureFor PVR >7 WU and PA pressures >50%need to perform O2 and NO study
63 Indications for Intervention Elective repair frequently has been deferred until the child is at least 4 years of age.Early operation has been recommended for those infants and young children who have unremitting heart failure or associated pulmonary hypertensioncontraindication :-pulmonary hypertension with Rt. to Lt shunting at restPulmonary vascular resistance of 14 WU
66 1.All are true regarding natural history of VSD except? In large VSDs, the rate of decline in pulmonary vascular resistance after birth is delayedIn Down syndrome the development of CHF is delayedCHF symptoms get worsen initially as pulmonary vascular resistance increasesAdults may present with new symptom of exercise intolerance
67 2.False statement regarding natural history of VSD is? Usually moderate sized VSDs can be managed medically without surgical intervention during infancyIntervention to close the VSD with PAH would shorter life expectancy than if the defect were left openThere is enlargement of LA, LV, RV and PA in moderate sized VSDsDevelopment of PAH may occur in as many as a quarter of patients with large defects who undergo surgery after 2 years of age.
68 3.False statement regarding natural history of VSD is? In outlet VSD 25 % will close by 2yrsIsolated VSD closure rate - 34% at 1 yr & 67% at 5 yrClosure is rare in malaligned VSDClosure more frequent in <10 yrs of age
69 4. VSD with Aortic valve prolapse, false statement? Rare before 2 yearsPrevalence 2% to 7%Right coronary cusp prolapse extremely rareNon-coronary cusp prolapse in perimembranous type
70 5.All are major mechanism for development of LVOT obstruction in VSD except ? Posteriorly malaligned outlet septumSeptal deviation or anteroseptal twistAnterolateral muscle bundleMitral arcade
71 6. Regarding infective endocarditis in VSD false statement is ? Incidence higher in large defectIncidence lower during childhoodOperated VSD 7.3 per person-yearsSurgical closure may be recommended in Patients with a proven episode of endocarditis
72 7. A term infant is born with a large ventricular septal defect 7. A term infant is born with a large ventricular septal defect. At what age is this infant MOST likely to first demonstrate clinical findings of congestive cardiac failure?2 days2 weeks2 months6 months12 months
73 8.True statement regarding LVOT obstruction in VSD is Anterolateral muscle bundle present normally in 60% of infantsAnteriorly malaligned outlet septum is a major causeUsually occurs below the ventricular septal defectSeptal deviation is a muscular protrusion of the left ventricular aspect of the septum
74 9.Which one of the following statements is incorrect regarding ductus arteriosus? It is a shunt from the pulmonary artery to the aorta in the fetusBlood flow may take place from the aorta to the pulmonary artery after birth, prior its closingRight to left blood flow increases with the first breath after birth due to falling pulmonary vascular resistanceThe smooth muscle in its walls is sensitive to rising PO2
75 10. The commonest presentation for an ASD in infants ? BreathlessnessFailure to thriveAsymptomatic murmurRecurrent chest infectionsArrhythmias
77 1.All are true regarding natural history of VSD except? In large VSDs, the rate of decline in pulmonary vascular resistance after birth is delayedIn Down syndrome the development of CHF is delayedCHF symptoms get worse initially as pulmonary vascular resistance increasesAdults may present with new symptom of exercise intolerance
78 2.False statement regarding natural history of VSD is? Usually moderate sized VSDs can be managed medically without surgical intervention during infancyIntervention to close the VSD with PAH would shorter life expectancy than if the defect were left openThere is enlargement of LA, LV, RV and PA in moderate sized VSDs.Development of PAH may occur in as many as a quarter of patients with large defects who undergo surgery after 2 years of age.
79 3.False statement regarding natural history of VSD is? In outlet VSD 25 % will close by 2yrsIsolated VSD closure rate - 34% at 1 yr & 67% at 5 yrClosure is rare in malaligned VSDClosure more frequent in <10 yrs of age
80 4. VSD with Aortic valve prolapse, false statement? Rare before 2 yearsPrevalence 2% to 7%Right coronary cusp prolapse extremely rareNon-coronary cusp prolapse in perimembranous type
81 5.All are major mechanism for development of LVOT obstruction in VSD except ? Posteriorly malaligned outlet septumSeptal deviation or anteroseptal twistAnterolateral muscle bundleMitral arcade
82 6. Regarding infective endocarditis in VSD false statement is ? Incidence higher in large defectIncidence lower during childhoodOperated VSD 7.3 per person-yearsSurgical closure may be recommended in Patients with a proven episode of endocarditis
83 7. A term infant is born with a large ventricular septal defect 7. A term infant is born with a large ventricular septal defect. At what age is this infant MOST likely to first demonstrate clinical findings of congestive cardiac failure?2 days2 weeks2 months6 months12 months
84 8.True statement regarding LVOT obstruction in VSD is Anterolateral muscle bundle present normally in 60% of infantsAnteriorly malaligned outlet septum is a major causeUsually occurs below the ventricular septal defectSeptal deviation is a muscular protrusion of the left ventricular aspect of the septum
85 9.Which one of the following statements is incorrect regarding ductus arteriosus? It is a shunt from the pulmonary artery to the aorta in the fetusBlood flow may take place from the aorta to the pulmonary artery after birth, prior its closingRight to left blood flow increases with the first breath after birth due to falling pulmonary vascular resistanceThe smooth muscle in its walls is sensitive to rising PO2
86 10. The commonest presentation for an ASD in infants ? BreathlessnessFailure to thriveAsymptomatic murmurRecurrent chest infectionsArrhythmias