APICAL HYPERTROPHIC CARDIOMYOPATHY (YAMAGUCHI SYNDROME): A NARRATIVE LITERATURE REVIEW

Abstract

This article aimed to conduct a narrative review of the scientific literature available on apical hypertrophic cardiomyopathy (AHCM), also known as Yamaguchi syndrome, addressing its epidemiology, pathophysiology, clinical presentation, diagnostic methods, complications, treatment, and prognosis. A narrative literature review was conducted in the PubMed/MEDLINE and SciELO databases and in cardiology society guidelines, with no date restriction, prioritizing original studies, case series, reviews, and relevant guidelines, including 30 studies and reference documents. AHCM was first described in Japan, with an estimated prevalence of 15% to 25% of hypertrophic cardiomyopathy cases in Asian populations, versus 1% to 10% in non-Asian populations. Diagnosis relies on electrocardiography, showing giant inverted T waves, echocardiography, showing a “spade-like” configuration, and cardiac magnetic resonance imaging, considered the most sensitive method. Relevant complications include apical aneurysm, atrial fibrillation, and sudden cardiac death, although the clinical course is often more benign than that of other forms of hypertrophic cardiomyopathy. It was concluded that AHCM remains underdiagnosed due to its nonspecific clinical presentation and the limitations of conventional echocardiography, and that early recognition, supported by multimodal imaging, is essential for risk stratification and adequate longitudinal follow-up.