Acyanotic Congenital Heart Disease Rajesh Shenoy, M.D. Section of Pediatric Cardiology The Children’s Hospital at Montefiore p Department of Pediatrics Albert Einstein College of Medicine

Classification Lesions producing volume overload L R shunt at atrial level: ASD, PAPVR L R shunt at ventricular level: VSD L R shunt at arterial level: PDA, A-P window Lesions producing pressure overload Subvalvar obstruction: HOCM Valvar obstruction: AS, PS Supravalvar obstruction: Supravalve AS/PS, PPS, Coarctation

ASD: Embryology                                                               

ASD: Types Ostium secundum ASD Ostium primum ASD Sinus venosus ASD Most common form More common in females Ostium primum ASD May occur in isolation In combination with AVSD, cleft mitral valve Sinus venosus ASD May be superior or inferior

ASD: Pathophysiology Left-to-right shunt occurs because RA pressure < LA pressure Gradual volume overload of RA/RV/PA Eventually may lead to pulmonary hypertension

ASD: Symptoms Depend on size and nature of ASD May be totally asymptomatic 4% of children go into CHF Unrepaired ASDs might have decreased effort tolerance in the long run

ASD: Signs Anthropometry: No FTT in most cases Inspection: Precordial bulge, RV heave Auscultation: Heart sounds S1-N S2-fixed wide split Murmurs: II/VI ejection systolic murmur at LUSB, radiating to axillae II/IV middiastolic rumble at LLSB

ASD: Investigations ECG: CXR: ECHO: Cath: rSR’ pattern in right precordial leads Upright T wave in right precordial leads CXR: Prominent pulmonary notch Apex shifted up Increased vascularity ECHO: Diagnostic Cath: Not necessary unless suspicion of pulmonary hypertension, or for therapeutic reasons

ASD: ECG                                                                                                            

ASD: X-Ray Chest

ASD: Echocardiography

ASD: Prognosis Very good prognosis even if repaired up to age of 65 years Repairs > 4-5 years: slightly decreased effort tolerance Secundum ASD smaller than 7 mm may close spontaneously upto 11 years Primum ASDs almost never close Risk of paradoxical embolism with small ASD

ASD: Therapeutic options Surgery Tried and tested Morbidity and mortality close to 0% Intervention FDA approved Newer and better devices

ASD: Long-term follow-up Excellent long-term results 2-3% however, develop atrial arrhythmias

                        VSD: Embryology

VSD: Classification (Anatomic)                               VSD: Classification (Anatomic)                               Inlet Outlet Membranous Muscular

VSD: Classification (Physiologic) Tiny Small Moderate Large (>75% dimension of aortic valve) Depends on symptoms, signs, echo appearance

VSD: Pathophysiology RV pressure starts to fall after 72 hrs, nadir by 2 months Depending on size of defect, left-to-right shunt Initially LA/LV enlargement Next, increased PA pressures Finally, RV enlargement/hypertrophy

VSD: Symptoms Spectrum from asymptomatic to crippling CHF Tachypnea, Feeding difficulty, FTT Tachycardia, Sweating, Cold extremities Sleep-suck-sleep cycle

VSD-Signs Depend on size of VSD and degree of CHF Anthropometry: FTT Inspection: Precordial bulge, Hyperdynamic precordium, LV apex Auscultation: Sounds:S1, S2, S3 gallop Murmur: Pansystolic murmur, increasing intensity with smaller defects Middiastolic rumble at apex Resp: Tachypnea, Crackles at lung bases Abdomen: Hepatomegaly

VSD: Investigations ECG: CXR: ECHO: Cath: Initially LAE/LVH, Later BVH Cardiomegaly with LV apex Increased vascularity Frequent pneumonia ECHO: Diagnostic Monitor LV size Cath: Not essential unless pulmonary hypertension has ensued or for therapeutic reasons

VSD: ECG                                                                                                             

VSD-X-Ray Chest

VSD: Echocardiography

VSD: Management CHF Management Surgery Interventional Medications: Digoxin, Furosemide Improving caloric intake: Calorie-dense formula, Moducal/Polycose/MCT oil Continuous NG feeding Surgery Interventional

VSD: Long-term follow up Perimembranous/Subaortic VSD: May cause aortic valve prolapse, and need yearly echo to monitor VSDs do not require SBE prophylaxis P/O VSDs need SBE prophylaxis for 6 months after surgery, or forever if small residuals persist

PDA: Embryology                                                          

PDA: Pathophysiology Fetal life: Functional closure in 72 hours Extremely important structure, as it shunts blood away from pulmonary arteries to descending aorta Functional closure in 72 hours Anatomic closure in 2 months Strongest stimulus for closure: PaO2>50

PDA: Symptoms Premature neonate: Older population: Large PDA shunts blood into lung bed Increasing O2 requirement Older population: Silent PDA Tiny/small PDA-Asymptomatic Moderate/Large PDA-Behave like large shunts

PDA: Investigations ECG: LAE/LVH CXR: Cardiomegaly / LV apex / Increased vascularity ECHO: Diagnostic Cath: Therapeutic

PDA: X-Ray Chest

PDA: Echocardiography

PDA: Treatment Medical: Surgical: Cath: Indomethacin Lasix (controversial) Management of CHF Surgical: Ligation Division Cath: Coil embolization Grifka bag Occluders

Atrioventricular septal defects Embryology

AVSD-Anatomy

AVSD-Pathophysiology Left-to-right shunt at atrial and ventricular level produces volume overload AV valve insufficiency worsens process Early CHF and Eisenmenger Some R-L shunting may cause desaturations

AVSD-Signs & Symptoms Behave like large L-R shunts Feeding difficulty, sweating on forehead, failure to gain weight Tachycardia/Hyperdynamic precordium Widely split S2 Murmur: ESM at pulmonic area MDM at mital area PSM at mitral area in case of associated MR

AVSD-ECG

AVSD-CXR

AVSD-Echocardiogram

AVSD-Cardiac catheterization Not frequently done these days, unless the diagnosis has been missed, and pulmonary vascular resistance needs to be checked

AVSD-Mangement Management of CHF Definitive surgical repair at around 4-6 months of life Long-term issues: Mitral insufficiency Subaortic stenosis

Pulmonary valve stenosis Deformation or incomplete separation of valve leaflets Valve may be bicuspid or tricuspid Occurring in isolation, or with VSD/ASD Common cardiac lesion with Noonan syndrome

PS-Anatomy

PS-Pathophysiology Presentation depends on degree of stenosis If the opening is tiny, R-L shunt at atrial level and ductal-dependent pulmonary circulation With decreasing grade of stenosis, severe to almost no RV failure

PS-Signs/Symptoms Critical PS-Pulmonary circulation is ductal-dependent. Neonate is cyanotic, and may be in extremis. + murmur Severe PS-Loud heart murmur, RV failure Moderate PS-Heart murmur, exercise intolerance Mild PS-Heart murmur, asymptomatic Relationship of heart murmur to drop in pulmonary vascular resistance

PS-Signs/Symtpoms S1 normal S2-Pulmonary component inaudible Ejection systolic click Ejection systolic murmur at the upper sternal border, radiating to the axillae and the back

PS-ECG

PS-CXR Normal cardiothoracic ratio Obliteration of ant. mediastinum Prominent pulmonary notch

PS-Echocardiogram

PS-Cardiac Catheterization Detects pressure gradients across valve Mild: 10-30 mm Hg Moderate: 30-60 mm Hg Severe: >60 mm Hg Catheterization is usually done only when balloon valvuloplasty is being contemplated for treatment

PS-Management Critical PS: PGE1, till definitive procedure- cath. vs. surgical valvotomy Severe/Moderate PS: Balloon Mild PS: Follow-up (No SBE reqd.) Decision to take child up for catheterization depends on morphology of the valve. Thickened & deformed valves are not amenable to cath. relief

Aortic stenosis ~ 5% of CHD (not including bicuspid) Due to fusion of valve leaflets Stenosis may be subvalvar (viz. subaortic membrane), or supravalvar (as with Williams syndrome)

AS-Anatomy

AS-Pathophysiology Manifestation depends on degree of obstruction Critical AS causes cardiogenic shock Severe AS might present with syncope on exertion Mild AS might be asymptomatic

AS-Signs S1: normal S2: aortic component is soft Ejection systolic click in aortic area with mild-moderate valvar AS Ejection systolic murmur in aortic area, intensity depends on degree of obstruction

AS-ECG

AS-Echocardiogram

AS-Management Critical AS: PGE1 to stabilize the child, followed by emergent surgical valvotomy vs. balloon valvuloplasty Severe AS: Gradient>60 mm Hg-intervene Moderate AS: Gradient>30 mm Hg-is AI present Mild AS: < 30 mmHg-follow Morphology of the valve, and presence of aortic insufficiency add to the decision-making

AS-Long-term follow up Mild AS: F/U echocardiogram to check for gradient, watch for syncope S/P procedure: AI, poorly tolerated Ross procedure Homograft replacement Prosthetic valve SBE prophylaxis

Coarctation of the aorta Usually discrete opposite the PDA Sometimes tubular narrowing of the arch (usually associated with AS, large VSD, or with Shone complex) Common defect with Turner syndrome

CoA-Anatomy

CoA-Pathophysiology ?Constriction of ductal tissue in juxtaductal segment With closure of PDA, obstruction to flow to the abdominal aorta With critical/severe CoA, LV failure With other types, development of collaterals-------HTN later on in life

CoA-Signs/Symtpoms Neonate:Left ventricular failure Non-critical CoA Asymptomatic, Claudication HTN, with arm-leg discrepancy of BP Continuous murmur from collaterals Murmurs of associated defects, viz. bicuspid aortic valve or VSD

CoA-ECG

CoA-CXR

CoA-Echocardiogram

CoA-Cardiac Catheterization

CoA-Management Neonatal: Support with PGE1, followed by surgical relief of coarctation Infancy: Controversial. Some opt for surgery, others for balloon angioplasty 2-7 years: Balloon angioplasty > 7 years: Balloon angioplasty + stent placement

CoA-Follow up HTN: Recurrent coarctation: May be transient in the post-surgical phase Older children may have sustained HTN (? Permanent change in aortic elasticity) Recurrent coarctation: Upto 50% of neonatal repairs, addressed by balloon angioplasty