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

TL;DR

A 30-year-old African-American man was diagnosed with apical hypertrophic cardiomyopathy, a rare heart condition often misdiagnosed as heart attack.

Contribution

This paper reports a rare case of Yamaguchi syndrome in an African-American male, emphasizing the importance of advanced imaging for accurate diagnosis.

Findings

Echocardiography and CMR confirmed apical hypertrophic cardiomyopathy with left ventricular hypertrophy and apical obliteration.

The case highlights the need to consider AHCM in differential diagnosis when imaging findings are ambiguous.

The patient's symptoms, including chest pain and dizziness, were consistent with AHCM despite initial suspicion of acute coronary syndrome.

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.

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