Overview Snapshot A 3-year-old boy is brought to your office by his parents because he gets tired very easily and cannot keep up with the other children. On exam, you hear a loud, pansystolic murmur at the left lower sternal border without radiation to the axillae. Introduction Most common congenital heart defect ASD second most common Observed in Tetralogy of Fallot Alpert's Syndrome Down's Syndrome cri-du-chat syndrome trisomy 13/18 Presentation Symptoms range broadly depending on degree of left to right shunt may be asymptomatic symptoms may appear by 6 months of age large defects present with CHF symptoms (dyspnea, pulmonary edema, etc) delayed development/growth exercise and/or feeding intolerance frequent respiratory infections Physical exam pansystolic-holosystolic, harsh, vibratory, murmur at the LLSB loud, pulmonic S2 diastolic rumble (due to increased flow across mitral valve) crackles cardiomegaly in severe cases Evaluation Echocardiogram gold standard for diagnosis predominant imaging tool for children EKG may be normal if VSD is small may show RVH or LVH CXR may show pulmonary edema cardiomegaly (if severe) Differential Mitral regurgitation, aortic stenosis Treatment Observation indicated in most cases asymptomatic lesions will close spontaneously Surgical repair reserved for large or membranous VSDs can prevent development of CHF Prognosis, Prevention, and Complications Prognosis good to excellent in small lesions poor in larger lesions if not identified/treated early Prevention cannot prevent the congenital defect early treatment can decrease the severity of sequelae Complications Eisenmenger's Syndrome