Apical Hypertrophic Cardiomyopathy: A Clinical & Multimodality Imaging Assessment

Abstract

Apical Hypertrophic Cardiomyopathy (ApHCM) is a distinct phenotypic variant of hypertrophic cardiomyopathy, defined by localized thickening of the left ventricular (LV) apex ≥15 mm in end-diastole. It presents unique diagnostic and management challenges, with clinical presentations ranging from asymptomatic individuals to those experiencing angina, dyspnea, or arrhythmias. Transthoracic echocardiography remains the first-line imaging modality but is often limited by suboptimal apical visualization. Contrast-enhanced echocardiography is recommended to improve diagnostic accuracy, particularly for identifying apical hypertrophy, apical aneurysms, and thrombi. Echocardiography also plays a key role in assessing left ventricular outflow tract obstruction, detecting concomitant mitral valve abnormalities, and guiding periprocedural planning. Cardiac magnetic resonance imaging (CMR) provides superior spatial resolution and tissue characterization. It is the gold standard for evaluating apical wall thickness, detecting apical aneurysms, and quantifying myocardial fibrosis through late gadolinium enhancement. CMR-based markers such as LGE burden and aneurysm size are valuable for sudden cardiac death risk stratification. Additional imaging modalities, including cardiac computed tomography and nuclear perfusion imaging, are important adjuncts when CMR is contraindicated or when evaluation for coronary artery disease is necessary. This review underscores the central role of multimodality imaging in the diagnosis, risk assessment, and management of ApHCM. Future research should focus on refining risk prediction tools to improve individualized care and clinical outcomes in this unique cardiomyopathy subtype.