Title

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

Authors

Sharanya Rajgopal, Yashkumar Chauhan*, Keerthi Talluri, Safa Kaleem, Salman Sajid, Tejashwini Reddy & Ankur Shah

Affiliation

Department of Internal Medicine, NYU Langone Health Hospital, New York, United States of America; *Corresponding author

Email

Sharanya Rajgopal - E - mail: drsharanyarajgopalbalaji@gmail.com; Phone: +16674343019

Yashkumar Chauhan - E - mail: yashchauhanblog@gmail.com; Phone: +15513448917
Keerthi Talluri - E - mail: keerthitalluri18@gmail.com; Phone: +16232729597
Safa Kaleem - E - mail: safakaleem24@gmail.com; Phone: +919010480553
Salman Sajid - E - mail: salmansajid48@gmail.com; Phone: +923186752700
Tejashwini Reddy - E - mail: tejashwinireddykohir08@gmail.com; Phone: +18500549298
Ankur Shah - E - mail: ankur.shah@nyulangone.org; Phone: +14124917611

Article Type

View

Date

Received February 1, 2025; Revised February 28, 2025; Accepted February 28, 2025, Published February 28, 2025

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.

Keywords

Yamaguchi syndrome, cardiomyopathy, cardiovascular magnetic resonance, left ventricular hypertrophy, diagnostic imaging

Citation

Rajgopal et al. Bioinformation 21(2): 257-261 (2025)

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.