Why the study?
Yamaguchi syndrome has traditionally been seen in Asian populations, particularly of Japanese descent, prompting the reporting of cases in other populations to broaden differential diagnoses.
Yamaguchi syndrome (apical hypertrophic cardiomyopathy) can present with ACS-like symptoms in non-Asian populations, such as Hispanic patients, and should be considered in the differential diagnosis.
Apical HCM may occur in Hispanic patients; challenges traditional Asian predominance and leaves open broader prevalence studies.
Yamaguchi syndrome or apical hypertrophic cardiomyopathy (HCM) is a unique variant of HCM. It is characterized by localized hypertrophy involving the left ventricular apex rather than the left ventricular septum. This syndrome has been traditionally seen in the Asian population, particularly those of Japanese descent. We present an interesting case of Yamaguchi syndrome seen in a Hispanic male. A 48-year-old Hispanic male presented with epigastric tenderness and was admitted to the hospital for a non-ST-segment elevation myocardial infarction. His diagnostic catheterization revealed no significant coronary artery disease. However, his echocardiogram revealed apical hypertrophy and narrowing of the left ventricular cavity at the apex, consistent with Yamaguchi syndrome. Case reports such as ours serve to help clinicians broaden their differential diagnoses when approaching patients with acute coronary syndrome-like symptoms to include diagnoses such as Yamaguchi syndrome.
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Shah et al. (2021) studied this question.
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