Mohammed Tiseer Abbas, Nima Baba Ali, Juan M Farina, Ahmed K Mahmoud, Milagros Pereyra, Isabel G Scalia, Moaz A Kamel, Timothy Barry, Steven J Lester, Charles R Cannan, Rohit Mital, Susan Wilansky, William K Freeman, Chieh-Ju Chao, Said Alsidawi, Chadi Ayoub, Reza Arsanjani
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caused by pathogenic variants in the core sarcomeric genes ( MYH7 , MYBPC3 , TNNT2 , TNNI3 , MYL2 , MYL3 , TPM1 , ACTC1 ). Genetic testing using targeted disease-specific panels that utilize next-generation sequencing (NGS) and include sarcomeric genes with the strongest evidence of association and syndrome-associated genes is highly recommended for every HCM patient to confirm the diagnosis, identify the molecular etiology, and guide screening and management...
March 19, 2024: Biomedicines