Table 1. Congenital defects, embryogenesis, pathologic consequences, recommended diagnostic imaging, and referral to specialized care.
| Category | Congenital defect | Embryologic etiology | Pathologic consequences | Diagnostic imaging | Class I indication for referral to CHD specialist | ||||
|---|---|---|---|---|---|---|---|---|---|
| TTE | TEE | CMRI | CT | ||||||
| Semilunar valves | |||||||||
| Aortic valve | Bicuspid aortic valve | Abnormal fusion of conotruncal endocardial cushions | Primary valvular disease (regurgitation/stenosis), aortopathy | ++ | + | + | ⍬ | ||
| Pulmonic valve | Congenital pulmonic stenosis | Abnormal fusion of conotruncal endocardial cushions and/or dysgenesis of endocardial cushion tissue | Inadequate right ventricular output, right ventricular dysfunction, tricuspid regurgitation | ++ | †‡ | † | ⍵ | ||
| Pulmonic regurgitation | Abnormal fusion of conotruncal endocardial cushions and/or dysgenesis of endocardial cushion tissue; though often iatrogenic | Right ventricular dysfunction, tricuspid regurgitation, increased arrhythmogenicity | ++ | ++‡ | ⍵ | ||||
| Tetralogy of Fallot | Anterior deviation of outflow tract spiral septum | Right ventricular dysfunction, tricuspid regurgitation, increased arrhythmogenicity | ++ | ++‡ | |||||
| Aortic and pulmonary valves | Truncus arteriosus | Failed septation of the ventricular outflow tract | Cyanosis due to right and left InterChamber communication | ++ | ++ | + | ++ | ||
| Atrioventricular valves | |||||||||
| Tricuspid valve | Ebstein’s anomaly | Failed delamination of septal and posterior tricuspid leaflets | Right ventricular dysfunction, tricuspid regurgitation, increased arrhythmogenicity | ++ | § | +‡ | ++ | ||
| Mitral valve | Cleft mitral valve | Partial failed fusion of ventral and dorsal atrioventricular endocardial cushions | Mitral regurgitation | ++ | + | ⍬ | |||
| Parachute mitral valve | Abnormal fusion of primitive papillary muscles during delamination | Mitral regurgitation and/or stenosis | ++ | + | ⍬ | ||||
| Tricuspid and mitral valves | Common atrioventricular valves | Total failed fusion of ventral and dorsal atrioventricular endocardial cushions | Cyanosis due to right and left InterChamber communication, valvular regurgitation/stenosis | ++ | ¶ | ¶ | ++ | ||
Note that truncus arteriosus, cleft mitral valve, and parachute mitral valve are included in this table to provide the reader with further examples of applied embryology in congenital heart disease. ++, indicates a recommendation for initial diagnostic testing, central component of surveillance, or Class I indication as a component of management; +, indicates a recommended secondary or adjunct component of management once diagnosis is established; †, cardiac MRI or CT may be indicated for assessment of peripheral (nonvalvular) pulmonary stenosis; ‡, cardiac MRI may be used to assess right ventricular size and function; §, transesophageal echocardiography can be useful for procedural planning if transthoracic images are inadequate to assess the tricuspid valve; ¶, transthoracic echocardiogram recommended for Atrioventricular Septal Defect per guidelines, though further imaging may be recommended by a CHD specialist; ⍬, if present with additional congenital structural abnormalities; ⍵, if valvular lesion is graded as more than mild in nature. CHD, congenital heart disease; CMRI, cardiac MRI; CT, computed tomography; TEE, transesophageal echocardiography; TTE, transthoracic echocardiography. Reference: Stout KK, Daniels CJ, Aboulhosn JA, Bozkurt B, Broberg CS, Colman JM, et al. 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019 Apr 2;139 (14):e698-800.