Yamaguchi syndrome: a rare type of hypertrophic cardiomyopathy

Apical hypertrophic cardiomyopathy, also known as Yamaguchi syndrome, is a rare variant of hypertrophic cardiomyopathy characterized by thickening of the apical segment of the left ventricle. Due to its non-specific symptoms and the limitations of standard echocardiography, it often remains undiagnosed. This article summarizes current literature regarding the epidemiology, pathophysiology, diagnosis, management, and prognosis of Yamaguchi syndrome. A narrative literature review was conducted using PubMed, Scopus, Web of Science, UpToDate, and European Society of Cardiology guidelines, analyzing studies published between 2016 and 2024, with emphasis on clinical presentation, imaging techniques, and risk assessment for sudden cardiac death. The syndrome is more common in Asian populations and is rarely reported in Europe and the Balkans. Electrocardiography typically reveals deep negative T waves in precordial leads, while cardiac magnetic resonance imaging remains the most accurate diagnostic method. Although the overall prognosis is generally favorable, some patients remain at risk for sudden cardiac death, particularly those with documented fibrotic involvement identified by late gadolinium enhancement. Management is usually conservative, with periodic follow-up and individualized decisions regarding the implantation of an implantable cardioverter defibrillator. Raising awareness of this rare variant, particularly in the Balkan region, is essential for timely diagnosis and optimal management.