Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

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 g...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Biomedicines
Subjects:
hypertrophic cardiomyopathy
sarcomeric genes
next-generation sequencing
whole exome sequencing
phenocopies
cascade testing
Online Access:https://www.mdpi.com/2227-9059/12/3/682

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