Advances in hypertrophic cardiomyopathy: What the cardiologist needs to know

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Hypertrophic cardiomyopathy (HCM) is known as the most common genetic heart disease, characterized by otherwise unexplained left ventricular (LV) hypertrophy. In spite of major advances in whole genome sequence techniques, it is still not possible to identify the causal mutation in approximately half of HCM patients. Consequently, a new HCM concept, "beyond the sarcomere" is being developed, supported by data from recent HCM registries which reveal two distinct HCM subgroups: sarcomere positive HCM subgroup and nonfamilial HCM subgroup. Sarcomere positive HCM patients tend to be younger age at diagnosis, have fewer co-morbidities, present more often with reverse septal morphology, more myocardial fibrosis, less LV outflow tract obstruction, and a worse prognosis when compared to nonfamilial HCM patients. These subgroups, with different molecular basis, phenotypes and clinical profiles, will likely require specific management strategies. Important research advances have also been made concerning diagnosis, sudden cardiac death stratification and therapy. In this article, we seek to review recent relevant knowledge, summarizing the advances in this complex and heterogeneous disease.

Original languageEnglish
Pages (from-to)499-509
Number of pages11
JournalRevista Portuguesa de Cardiologia
Issue number6
Publication statusPublished - Jun 2022


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