Abstract
Background:
Apical hypertrophic cardiomyopathy (ApHCM) known as Yamaguchi syndrome, is an uncommon variant of hypertrophic cardiomyopathy, with higher incidence reported in the Asian populations. The clinical presentation of ApHCM is vague thus can mimic other conditions, which can lead to a delayed or a missed diagnosis. Only a few reports have described the incidence of Yamaguchi syndrome in other populations other than Asians.
Case Presentation:
A 46-year-old male, heavy smoker, with unremarkable past medical history was presented to the emergency department with severe central chest pain that radiates to the left side, exacerbated by excretion, and relived by rest not associated with shortness of breath or palpitation. Additionally, the patient reported two similar episodes that occurred the past 4 days. However, physical examination was unremarkable. Initially the patient was labeled as high-risk acute coronary syndrome (unstable angina vs non-ST segment myocardial infarction). Cardiac markers including troponin I and Creatine kinase-MB were within normal range. ECG revealed deep T wave inversion in the inferior limb leads and pericardial leads suggestive of right coronary and left anterior descending artery or left main coronary lesion. The patient underwent for urgent cardiac catheterization which revealed normal coronary arteries. Transthoracic echocardiograph (TTE) showed isolated apical hypertrophy with preserved LV function, suggestive of ApHCM. The patient was advised on smoking cessation and discharged on beta blocker.
Conclusion:
There is an imminent need to establish further research investigating the prevalence of Yamaguchi syndrome among the Saudi population.

Key words: Yamaguchi Syndrome, apical hypertrophic cardiomyopathy, ApHCM, case report, Saudi Arabia.