Echocardiography in the Diagnosis and Management of Hypertrophic Cardiomyopathy.
Cardiol Clin. 2019 Feb;37(1):11-26
Authors: Rakowski H, Hoss S, Williams LK
Hypertrophic cardiomyopathy (HCM) is an inherited condition present in about 1/500 individuals with more than 1500 causative mutations identified in primarily 10 sarcomeric proteins. Although HCM is inherited in an autosomal dominant way, there is often incomplete penetrance and variable phenotype even with the same genotype. It is characterized by a degree of hypertrophy (usually asymmetric), that is, not due to another identifiable cause, as well as variable degrees of myocardial fibrosis and microvascular abnormalities.
PMID: 30447711 [PubMed - in process]