Pocket Pediatrics: The Massachusetts General Hospital for Children Handbook of Pediatrics (Pocket Notebook Series), 2 Ed.

CONGENITAL HEART DISEASE

Elena Grant 2012

Cyanotic Lesions (Pediatr Rev 2007;28:123; N Engl J Med 2000;342:334)

• Tetralogy of Fallot: Most common cyanotic CHD after infancy; anterior malalignment of conal septum leading to VSD, overriding aorta, RV outflow tract obstruction, and RVH

• Exam: SEM at LUSB, loud single S2; EKG w/ RAD, RVH

• CXR: “Boot-shaped” heart, nml heart size, decreased PVMs, +/− right arch

• Degree of cyanosis related to degree of pulmonary outflow obstruction, which can vary. Can present as severe cyanosis DOL#1 or later (pink Tet)

• Hypercyanotic spells: W/ tachypnea, hyperpnea, worsening cyanosis 2/2 ↑ in RVOT obstruction

• Treat hypercyanotic spells acutely with volume, oxygen, agent to increase SVR, squatting position, morphine

• Murmur disappears during spells 2/2 ↑ RV outflow tract obstruction

• Tetralogy is ductal dependent if PS is severe (use prostaglandin)

• Treatment is surgical with repair of RV outflow tract obstruction and closure of VSD

• Transposition of Great Arteries (D-TGA): Aorta arises from the right ventricle and pulmonary artery arises from the left ventricle. Need communication between systemic and pulmonary circulations

• Nonspecific; single loud S2; no murmur w/o other defect, worst cyanosis ever!

• EKG: RAD, RVH

• CXR: “Egg on string”; increased PVMs

• Ductal dependent (prostaglandin, balloon atrial septostomy & surgical arterial switch)

• Total Anomalous Pulmonary Venous Return: Total or partial abnormal return of pulm veins to R side circ

• 3 main types: Supracardiac (left cardinal vein), infracardiac (ductus venosus), or intracardiac (coronary sinus). May be complicated by obstruction of venous return with earlier presentation

• Exam: ↑ RV impulse; fixed, split S2; SEM at LUSB; mid-diastolic rumble LLSB

• EKG: RAD, RVH, ± RAE

• CXR w/ cardiomegaly, nml to ↑ peripheral vascular markings (PVM); if obstructed venous flow—“snowman in a storm,” edema, congestion

• Treatment is surgical repair

• Tricuspid atresia: Failure of tricuspid valve to form leading to incomplete development of right ventricle (hypoplastic RV) and pulmonary artery

• Exam: PDA murmur; ± single S2; ± VSD murmur

• EKG: LAD or superior axis; RAE, LVH

• CXR: Normal; mild cardiomegaly; usually decreased PVMs

• Degree of cyanosis and hypoxemia depends on patency of duct and size of VSD and overall obstruct to RV outflow; can present later if VSD large and minimal PS

• Ductal dependent. Treatment is surgical repair

• Ebstein anomaly: Inferior displacement of tricuspid valve with atrialization of right ventricle. Often with tricuspid regurgitation. Variable severity

• Exam: Widely split S1 and S2, S3 and S4 often present, systolic M at LLSB

• EKG: Tall and broad P waves, RBBB; 20% assoc with WPW

• CXR: Biggest heart you will ever see; narrow mediastinum; decreased PVMs

• ↑ rate of intrauterine mortality, neonate p/w severe cyanosis, older kid usually p/w murmur, adol/adults usually p/w supravent arrhythmia. Rx w/ PGE acutely

• Hypoplastic left heart syndrome (HLHS): Spectrum of defects characterized by underdevelopment of the LV outflow tract resulting in varying degrees of hypoplasia of left-sided structures including the mitral valve, LV, and aorta. The right ventricle provides systemic and pulmonary blood flow

• Exam: Increased RV impulse; single loud S2; +/− soft HSM at LLSB, HM

• EKG: Nml to increased PVMs, cardiomegaly

• Ductal dependent. Symptoms depend on ductal patency. With closure of ductus get cardiogenic shock and circulatory collapse. Need to keep PVR high and SVR low. Needs staged surgical palliation (Norwood, Glenn, Fontan)

• Pulmonary atresia: Atresia of pulmonary valve, can be with or without VSD. Pulmonary atresia with VSD is managed as a severe form of TOF. Pulmonary atresia with intact ventricular septum usually associated with hypoplastic RV and anomalous connections between the RV and coronary arteries (sinusoids)

• Exam: Murmur of PDA; EKG: Mild LAD, RAE; CXR: Decreased PVMs

• Severe cyanosis, day 1 with closing PDA. Decreased PaO2

• Ductal dependent. Treatment is surgical repair

• Truncus arteriosus: Failure of conotruncal septum to separate the aorta and pulmonary artery resulting in a single great vessel (truncal artery) arising from the heart which gives rise to the aorta and pulmonary arteries. VSD present. Variable origin of branch PAs from truncal artery. Commonly have truncal valve abnormalities

• Exam: Active. Single loud S2; ± SEM, click; ± regurg murmur; inc pulse press, bounding pulses; EKG: Bi-ventricular hypertrophy (BVH)

• CXR: Cardiomegaly, increased PVMs; ± right arch

• Presents with cyanosis and signs/symptoms of heart failure due to pulmonary overcirculation from L to R shunt

• Not a ductal dependent lesion. Treatment is surgical repair

Acyanotic Lesions (N Engl J Med 2000;342:256)

• Atrial septal defects: (1) Ostium secundum defect; (2) ostium primum defect (actually form of atrioventricular septal or AV canal defect); (3) sinus venosus ASD at the base of atrial septum; sinus venosus ASD; (associated with partial anomalous pulmonary venous return); (4) unroofed coronary sinus

• Exam: Wide fixed split S2; SEM at LUSB

• EKG: Normal to RAD; incomplete RBBB, RV volume overload

• CXR: Increased pulm vascular markings and a peripheral vascular pattern

• Magnitude and direction of shunt determined by size of defect and compliance of ventricles. Can be asymp or lead to CHF (due to L to R shunt), poor feeding, recurrent pulm infections

• Rx includes surgical patch or cath device. Ostium secundum can spont close

• Ventricular septal defects: Most common congenital cardiac defect. Types include (1) inlet (beneath AV valves), (2) outlet (gives rise to great vessels), (3) perimembranous (junction between inlet and outlet, 70% cases), and (4) muscular (between LV and RV, 20% cases). Causes L to R shunt

• Exam: Dynamic and laterally displaced LV; HSM at LLSB; ± apical diastolic rumble (only if a large VSD is present)

• EKG: Small defects – nml; large – LAE/LVH to BVH

• CXR: Small – nml; large – cardiomegaly, increased PVMs

• Presentation, depends on size of defect and resistance in pulm and systemic vasc. Large → LV failure or pHTN w/ RV failure. Muscular VSDs usually spontaneously close by 12 mo. Inlet and malalignment VSDs never close

• AV canal: Endocardial cushion defect. Spectrum of lesions. Complete AV canal: Includes primum ASD, inlet VSD, and common AV valve. Results in L to R shunting. Often associated with Trisomy 21

• Exam: Murmurs of ASD, VSD; active. ± gallop

• EKG: Superior QRS axis; Q in I, aVL; ± RVH, LVH

• CXR: Cardiomegaly, increased PVMs

• If complete, presents like large VSD. Treat like ASD or VSD

• Patent ductus arteriosus: Persistence of fetal circulation w/ connection btw pulmonary artery & aorta. 10% of CHD; ↑ incidence in preemies, infants born at high altitudes, and pregnancies c/b perinatal hypoxemia or maternal rubella infxn

• Direction of shunt determined by relative resistance of systemic & pulmonary circ

• Exam: Continuous machinery murmur at LUSB, bounding pulses, widened pulse pressure due to aortic diastolic runoff

• EKG: Small – nml; large – LAE/LVH to BVH

• CXR: Nml to inc PVMs, prox pulm a. dilation, prominent ascending aorta

• Usually presents with murmur, ± CHF later. Can close PDAs with ibuprofen, indomethacin, cath coil, or surgical ligation

• Pulmonary stenosis: Valvular (assoc w/ Noonan syndrome), supravalvular (narrowing of pulm trunk, its bifurcation, or its branches), or subvalvular (narrowing of RV infundibulum)

• Exam: Cres–decres systolic @ LUSB; wide split S2 that moves w/ respiration

• EKG: Normal to RAD, RVH to RVH with strain

• CXR: Poststenotic dilatation of main pulm a., decreased PVMs

• Symptoms determined by severity of stenosis, RV fxn, and competence of tricuspid valve; ductal dependent if there is critical stenosis

• Rx is percutaneous balloon valvuloplasty or surgical valve replacement or resection

• Aortic stenosis: Valvular, subvalvular (subaortic) or supravalvular (assoc w/ Williams syndrome). Valvular AS assoc w/ other cardiac anom (PDA or coarct). Subvalvular may be fixed or dynamic (hypertrophic cardiomyopathy at RUSB, can radiate to the neck

• EKG: Normal to LVH ± strain; CXR: Normal to cardiomegaly w/ LV dilatation

• Valvular AS can present <1 yo w/ CHF even shock; or >1 yo w/ murmur. Subvalvular AS usually presents w/ murmur

• Ductal dependent if there is critical stenosis

• Aortic coarctation: Narrowing of aorta usually distal to L subclav artery origin opposite ductus arteriosus; M > F, assoc w/ Turner, bicusp AV, and aneurysms of circ of Willis

• Exam: SEM at LUSB to back; ↑ SBP and widened pulse press in arms, femoral pulses are weak and delayed

• EKG: LVH in older children

• CXR: Rib notching in older children; indentation of aorta (reverse E or 3 sign)

• 3 presentations: Infant in CHF, child w/ HTN in upper ext, or child w/ murmur

• Tx: ↑ incidence of subsequent aortic aneurysm or recurrent coarctation w/ percutaneous balloon dilatation vs. surgical repair