heartbeats

Hypertrophic cardiomyopathy (HCM) is a hereditary myocardial disorder characterised by left ventricular wall thickening in the absence of abnormal loading conditions. Patients with HCM are at increased risk of arrhythmias and sudden cardiac death (SCD).1 Apical HCM is a unique phenotype of HCM, defined by localised myocardial thickening confined to the left ventricular apex and a spade-like configuration of the left ventricle. In general, apical HCM has traditionally been regarded as a clinically benign subtype compared with other HCM phenotypes, due to its lower prevalence of left ventricular outflow tract obstruction and perceived favourable prognosis.2 However, given the relatively low incidence of apical HCM within the broader cardiovascular disease spectrum, the risk of malignant arrhythmias associated with apical HCM may have been overlooked in current guidelines. The latest European Society of Cardiology guidance on HCM provides only a cursory mention of apical HCM, lacking specific recommendations to guide its risk stratification or management strategies.1 However, emerging evidence challenges this perspective, highlighting the risk of arrhythmia in apical HCM when disease-causing sarcomeric variants are present. These findings underscore the necessity of genetic testing in refining risk stratification across all HCM phenotypes and call for a paradigm shift in clinical approaches to apical HCM.

HCM is predominantly caused by pathogenic variants in sarcomere-related genes, with MYBPC3 (myosin-binding protein C, 40–50%) and MYH7 (beta-myosin heavy chain, 35–40%) being the most prevalent. The remaining cases involve other contractile apparatus genes (eg, TNNT2, TNNI3).3 Emerging genomic studies have identified pathogenic variants in sarcomeric genes, including ACTC1, …