Isolated left ventricular apical hypoplasia: case report

Abstract

Background Isolated left ventricular apical hypoplasia is a rare, probably congenital, cardiac condition recently reported in the last two decades. Although most cases are asymptomatic or mildly symptomatic, some severe and fatal cases have been reported, leading to more efforts for appropriate diagnosis and treatment. We describe the first, and severe, case of this pathology in Peru and Latin America. Case summary A 24-year-old male with history of long-standing alcohol and illicit drugs use presented with symptoms of heart failure and atrial fibrillation. Transthoracic echocardiography showed biventricular dysfunction along with spherical left ventricle, abnormal papillary muscles’ origin from the left ventricular apex and an elongated right ventricle wrapping around the deficient left ventricular apex. Cardiac magnetic resonance confirmed these findings and revealed subepicardial fatty replacement at the left ventricular apex. The diagnosis of isolated left ventricular apical hypoplasia was made. He was discharged from hospital with carvedilol, enalapril, digoxin and warfarin. Eighteen months later he remains mildly symptomatic at New York Heart Association functional class II without worsening heart failure nor thromboembolism. Discussion This case highlights the usefulness of multimodality non-invasive cardiovascular imaging for accurate diagnosis of isolated left ventricular apical hypoplasia as well as the importance of close follow-up and treatment of established complications (heart failure and atrial fibrillation).