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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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Kaydedildi:
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI AG 2024-03-01
Seri Bilgileri:Biomedicines
Konular:
hypertrophic cardiomyopathy
sarcomeric genes
next-generation sequencing
whole exome sequencing
phenocopies
cascade testing
Online Erişim:https://www.mdpi.com/2227-9059/12/3/682
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