Unmasking yamaguchi syndrome: A rare case of apical hypertrophic cardiomyopathy in a young African - American male

Abstract

Yamaguchi syndrome, also known as apical hypertrophic cardiomyopathy (AHCM), is a genetic disorder predominantly affecting the apex of the left ventricle and often presenting similarly to acute coronary syndrome, making precise imaging crucial for diagnosis. This condition, first identified in Japanese populations, is more common in Asian communities but varies in frequency across different populations. We are presenting the case of a 30-year-old African-American male patient with a history of hyper-lipidemia, asthma and obesity, who reported palpitations, dizziness and chest pain radiating to the left arm and jaw, particularly under stress. Echocardiography and cardiovascular magnetic resonance (CMR) revealed severe left ventricular hypertrophy, mild valvular regurgitation and marked apical obliteration, confirming the diagnosis of apical hypertrophic cardiomyopathy. This case highlights the need to consider apical hypertrophic cardiomyopathy in the differential diagnosis of patients with hypertrophic features, especially when conventional imaging findings are unclear.