Isolated Left Ventricular Apical Hypoplasia Presenting as Vasovagal Syncope in a Middle-Aged Male Patient.

Background: Isolated left ventricular apical hypoplasia (ILVAH) is a rare congenital cardiomyopathy characterized by a truncated and spherical left ventricle with compensatory right ventricle elongation. Clinical presentation is variable and often delayed.

Case summary: We report a 40-year-old man with no comorbidities who presented with a vasovagal episode. Electrocardiogram showed sinus rhythm with incomplete left bundle branch block. Echocardiography suggested dilated cardiomyopathy; however, cardiac magnetic resonance imaging (CMR) revealed the classic features of isolated left ventricular apical hypoplasia, including a truncated, spherical left ventricle with fatty apical infiltration, elongated right ventricle encasing the apex, and papillary muscle abnormalities. Despite preserved ejection fraction (53%), we initiated medical therapy with angiotensin receptor neprilysin inhibitor, beta-blockers, SGLT2i, spironolactone, and aspirin. The patient declined coronary angiography and is under follow-up.

Discussion: ILVAH can mimic dilated cardiomyopathy on echocardiography. CMR is key to accurate diagnosis and management.

Take home messages: Suspect ILVAH in a globular left ventricle with apical truncation. It may mimic dilated cardiomyopathy and requires CMR for confirmation.