Unravelling the enigmas of apical hypertrophic cardiomiopathy: an integrative literature review

Abstract

Introduction: Apical hypertrophic cardiomyopathy (AHCM) is a rare phenotypic variant of hypertrophic cardiomyopathy, characterized by myocardial hypertrophy predominantly affecting the apex of the left ventricle. Although historically considered benign, contemporary evidence points to a significant risk of serious complications, such as heart failure, atrial fibrillation, and thromboembolic events. Diagnosis is often challenging due to the mimicry of various "phenocopies" that require specific therapeutic approaches. Objective: To conduct an integrative literature review on AHCM, analyzing its pathophysiology, clinical presentation, and diagnostic findings, with a focus on assertive differentiation between the disease and its primary clinical simulations. Methods: This is an integrative review conducted using the MEDLINE-Pubmed and Virtual Health Library databases, utilizing the descriptors "Apical Hypertrophic Cardiomyopathy" and "Hypertrophic Cardiomyopathy". Twenty-seven articles published within the last ten years were selected, including clinical trials, meta-analyses, case reports, and reviews. Results and Discussion: ApHCM has a sarcomeric genetic basis and typically presents with chest pain and universal apical myocardial ischemia. The classic electrocardiographic sign is the presence of giant negative T-waves. Cardiac magnetic resonance has established itself as the gold standard, allowing for the identification of the "ace of spades" configuration and the quantification of fibrosis through late gadolinium enhancement. The main conditions that simulate AHCM were discussed, such as cardiac amyloidosis, non-compaction cardiomyopathy, cardiac sarcoidosis, endomyocardial fibrosis, athlete's heart, and Fabry disease. Precise differentiation is vital, as specific treatments diverge significantly from the conventional management of ApHCM. Conclusions: AHCM possesses marked phenotypic and prognostic heterogeneity. The strategic use of an integrated multimodal approach is fundamental for differential diagnostic precision, allowing for personalized clinical management and the reduction of patient morbidity and mortality.