Card Fail Rev. 2026 May 15;12:e12. doi: 10.15420/cfr.2025.14. eCollection 2026.
ABSTRACT
Hypertrophic cardiomyopathy (HCM) is a genetic disease present in 0.2% of the general population. It is defined by the presence of an increased left ventricular wall thickness (with or without right ventricular hypertrophy) or mass that is not solely explained by abnormal loading conditions. The vast majority of genes and mutations underlying HCM encode sarcomere proteins or sarcomere-associated proteins. The clinical presentation of the disease is highly heterogeneous and can present in all age groups. Most affected individuals will achieve a normal life expectancy without disability, but some patients with HCM can present significant complications, including sudden cardiac death, heart failure and AF. The selection of patients for the best therapeutic approach requires accurate diagnosis and phenotyping of the disease. In addition, differential diagnosis with other entities that can present with left ventricular hypertrophy is key to prescribing the most appropriate therapy. Multimodality imaging plays a key role in the characterisation of HCM.
PMID:42338998 | PMC:PMC13284785 | DOI:10.15420/cfr.2025.14