Key result
Multimodality imaging guides accurate diagnosis and phenotyping of HCM.
Why the study?
Selecting the optimal therapy for hypertrophic cardiomyopathy requires accurate diagnosis, phenotyping, and differential diagnosis from other causes of left ventricular hypertrophy, where multimodality imaging plays a key role.
Multimodality imaging is essential for the accurate diagnosis, phenotyping, and therapeutic selection in patients with hypertrophic cardiomyopathy.
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.
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Escribano et al. (2026) conducted a review in Hypertrophic cardiomyopathy. Multimodality imaging was evaluated. Multimodality imaging plays a key role in the characterisation, accurate diagnosis, and phenotyping of hypertrophic cardiomyopathy, a genetic disease present in 0.2% of the general population.
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