Tate Gisslen, MDMentor: Bradley S. Marino, MD, MPP, MSCEMay 6, 2011Ventricular Septal Defects

Anatomy4 morphological components of septumMembranousInletOutlet/InfundibularMuscular/Trabecular

AnatomyMembranous-70-80%SmallLocated at base, between inlet and outletPerimembranous - Extends to adjacent septum

MembranousMembranous

AnatomyInlet Inlet 5-8%, AV valve to chordae attachments

Inlet

AnatomyOutlet/Infundibular 5-7% Separates L and R outflow tracts

Infundibular

AnatomyMuscular/Trabecular (5-20%)Anterior/Marginal (anterior to septal band)Midmuscular/Central (posterior to septal band)Apical (inferior to moderator band)Posterior (beneath septal leaflet)

Muscular

PhysiologyBlood flow (which way and how much) dependent on multiple factorsSmall and restrictiveLesion sizeLarge and non-restrictiveBalance between pulmonary and systemic vascular resistance

Lesion SizeRestrictive VSD< 0.5 cm2 (Smaller than Ao valve orifice area)Small L to R shuntNormal RV output75% spontaneously close < 2yrsNon-restrictive VSD> 1.0 cm2 (Equal to or greater than to Ao valve orifice area)Equal RV and LV pressuresLarge hemodynamically significant L to R shuntRarely close spontaneously

Vascular ResistancePulmonary resistance may remain high longer in infants with large VSDMinimal L to R shuntDecreasing pulmonary resistance leads to significant L to R shunt Clinical symptoms of CHFPersistent L to R shunt leads to hypertrophy of the medial smooth muscle layer of the pulmonary arteries which increases PVR and potential R to L shuntingLong-standing L to R shunting that results in chronically increased PVR may lead to persistent R to L shunting described as Eisenmenger Physiology

Clinical Features-Small LesionsMurmur 4 to 10 days, early with rapid decrease in PVR

Asymptomatic normal feeding, growth and development

MurmursRestrictive VSD - Holosystolic murmurcorrelates with continuous pressure gradient

Non-restrictive large VSD no murmur (no turbulence if no gradient)

Clinical Features-Large LesionsAccentuated precordial activityMore prominent as LV volume increasesSigns/symptoms of CHFDiaphoresisTachypneaFatigue with feedingHepatomegalyRalesDuskiness with cryingMay develop as early as 2 weeksSeverity increases as PVR decreases

EvaluationChest RadiographyCardiomegalyIncreased pulmonary vasculaturePulmonary edema

CXR of VSD

EvaluationEKGSmall: normal or LVHProminent Q, R, and T waves in II, III, aVF and V6

Large: Biventricular hypertrophyRVH- rsR in V1, S wave in V6

EchocardiographyAssess indication in consultation with Cardiology Assess location, size, and multiplicityRV and PA pressureAssess for LA and LV dilationAssess LV functionNote relation to great vessels, AV valves

Cardiac CatheterizationAble to document Number of defectsPresence of associated defectsMagnitude of shunt Estimate PVR Not used if information apparent by other meansMost information available through Echocardiography

PrevalenceMost common congenital heart lesionOccurs in 50% of children with heart lesions15-20% in isolation5-50 per 1000 live births56% female

Associated DefectsLeft Heart DefectsAortic stenosisCoarctation of the aortaRight Heart DefectsTetrology of FallotDouble Outlet Right VentricleTruncus ArteriosusSome single ventricle (e.g. Tricuspid atresia, double inlet left ventricle)

Chromosomal Disorders associated with VSDTrisomy 21: 40% of T21 will have VSDTrisomy 13, 18: 18% of T13, 31% of T18 will have VSD22q11 deletion:Tetrology of Fallot is most common anomaly VSD with or without aortic arch anomaly is second most common Holt-Oram (Hand-heart syndrome): TBX5 gene found on Chromosome 12Recurrence risk for VSD based on parental VSDPaternal 2%Maternal 6-10%

Treatment for Small VSDNo medication or surgery if asymptomatic75-80% close by 2 years

Observation

No antibiotic prophylaxis for procedures

Treating a Moderate to Large VSD

Treatment of CHF

Determining when to repair

CHF TreatmentHigh-calorie formulaMedicationDiureticsFurosemide with or without spironolactoneAfterload reductionEnalapril or Captopril Digoxin (maybe) Symptoms of CHF improve as L to R shunt decreases

Indications for InterventionDecompensated CHFCompensated CHF with:Large hemodynamically significant VSD - L to R shunting with Qp/Qs > 2:1, even if asymptomatic, ideally before 1 yearGrowth failure, unresponsive to medical therapy is an indication for surgery

Not Indicated

Small VSDs - 6 months without CHF or PVR

Small hemodynamically insignificant VSD L to R shunting with Qp/Qs < 1.5:1

Eisenmenger physiology

Post-InterventionMost infants have normal growth and developmentEarly closure (< 1 year) associated with better LV function and regression of hypertrophyResidual VSD is not commonRBBB is common following surgeryRare complete heart block

SurgeryTypically dacron patch closure

Sometimes primary closure

Surgical mortality < 1%

Catheter ClosureLocationMuscularPerimembranous

ComplicationsHeart blockValve insufficiency

ReferencesBacker CL. Ventricular septal defect closure: what is the role for transcatheter closure? Cardiology. 2009;114:235-7. Epub 2009 Aug 7.Beck AE, Hudgins, L. Congenital cardiac lesions in the neonate: Isolated or syndromic? Neoreviews. 2003;4:e105-e110.Carminati M, Butera G, Chessa M, De Giovanni J, Fisher G, Gewillig M, Peuster M, Piechaud JF, Santoro G, Sievert H, Spadoni I, Walsh K; Investigators of the European VSD Registry. Transcatheter closure of congenital ventricular septal defects: results of the European Registry. Eur Heart J. 2007;28:2361-8. Epub 2007 Aug 7.Knauth AL, Lock JE, Perry SB, McElhinney DB, Gauvreau K, Landzberg MJ, Rome JJ, Hellenbrand WE, Ruiz CE, Jenkins KJ. Transcatheter device closure of congenital and postoperative residual ventricular septal defects. Circulation. 2004;110:501-7. Epub 2004 Jul 19.Maghsood S, Das BB. Index of suspicion in the nursery. Neoreviews. 2007;8:e133-e135McDaniel NL, Gutgesell HP. Ventricular septal defects. In: Allen HD, Clark EB, Gutgesell HP, Driscoll DJ, eds. Moss and Adams Heart disease in infants, children and adolescents. Philadelphia: Lippincott Williams & Wilkins, 2001:636-651.Minette MS, Sahn DJ. Ventricular septal defects. Circulation. 2006;114:2190-2197.Momma K, Matsuoka R, Takao A. Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol. 1999;20:97-102.Park MK. Pediatric Cardiology for Practitioners. St. Louis: Mosby, Inc. 1996:135-142.Park MK. The Pedatric Cardiology Handbook. Philadelphia: Mosby Elsevier, 2003:67-70.Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A. 2006;140:1749-56.Wilson W, Taubert KA, Gewitz M, Lockhart PB, Baddour LM, Levison M, Bolger A, Cabell CH, Takahashi M, Baltimore RS, Newburger JW, Strom BL, Tani LY, Gerber M, Bonow RO, Pallasch T, Shulman ST, Rowley AH, Burns JC, Ferrieri P, Gardner T, Goff D, Durack DT; American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee; American Heart Association Council on Cardiovascular Disease in the Young; American Heart Association Council on Clinical Cardiology; American Heart Association Council on Cardiovascular Surgery and Anesthesia; Quality of Care and Outcomes Research Interdisciplinary Working Group. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation. 2007;116:1736-54. Epub 2007 Apr 19.Zahka KG, Gruenstein DH. Approach to the neonate with cardiovascular disease. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Neonatal-Perinatal Medicine. Philadelphia: Mosby Elsevier, 2006:1747-1754.

*Lies in outflow tract of L ventricle, below aortic valve. R heart view-beneath crista supraventricularis and posterior to the papillary muscle of conus. May be classified further based on extension-Perimembraneous inlet, perimembraneous outlet etc. *Posterior and inferior to membranous defects, beneath septal leaflet of the tricuspid valve and inferior to papillary muscle of conus*29% in the Far Eastern countries. Sits beneath the pulmonary valve*Frequently multiple. Apical are most common, difficult to visualize due to overlying trabeculae. Central-partially hidden by overlying trabeculae-gives impression of multiple defects, single round defect from L ventricle. Anterior-multiple, small, tortuous along free wall margin*Small VSDs show normal heart size and vasculature. **Dont need if there is a small defect, but if large and concern for increased LA/LV, only catheterization can determine the magnitude of the shunt and estimate the PVR*Holt-Oram- can have absent radius or thumb, triphalangeal thumb or more severe limb defects. 95% not associated with any chromosomal defect*Antibiotic prophylaxis only recommended for 6 months after placement of device or prosthetic material. *Important to assess cause of decrease shunt-Increase in PVR, decrease of size of defect, hypertrophy of RV outflow tract (functional obstruction)*Pulm vascular disease may occur up to 25% of large defects who undergo surgery after 2 years, increased postoperative pulm resistance in older patients*1.5:1-2:1 is gray area. *Usually in muscular septum-apical or midmuscular, when difficult to close surgically or involve deleterious approaches. (ventriculotomy)*