A Family with Myh7 Mutation and Different Forms of Cardiomyopathies.

Autor:	Catrina BI; Department Basic Science-Physiopathology, Faculty of Medicine, 'Lucian Blaga' University, 550169 Sibiu, Romania.; County Clinical Emergency Hospital of Sibiu, 550245 Sibiu, Romania., Batar F; Department Basic Science-Physiology, Faculty of Medicine, 'Lucian Blaga' University, 550169 Sibiu, Romania., Baltat G; Department Clinic-Medicine, Faculty of Medicine, 'Lucian Blaga' University, 550196 Sibiu, Romania., Bitea CI; County Clinical Emergency Hospital of Sibiu, 550245 Sibiu, Romania., Puia A; County Clinical Emergency Hospital of Sibiu, 550245 Sibiu, Romania., Stoia O; County Clinical Emergency Hospital of Sibiu, 550245 Sibiu, Romania.; Department Medicine-Internal Medicine, Faculty of Medicine, 'Lucian Blaga' University, 550169 Sibiu, Romania., Fleacă SR; County Clinical Emergency Hospital of Sibiu, 550245 Sibiu, Romania.; Department of Surgery, Faculty of Medicine, 'Lucian Blaga' University, 550169 Sibiu, Romania., Teodoru M; County Clinical Emergency Hospital of Sibiu, 550245 Sibiu, Romania.; Department Medicine-Internal Medicine, Faculty of Medicine, 'Lucian Blaga' University, 550169 Sibiu, Romania.
Jazyk:	angličtina
Zdroj:	Biomedicines [Biomedicines] 2023 Jul 22; Vol. 11 (7). Date of Electronic Publication: 2023 Jul 22.
DOI:	10.3390/biomedicines11072065
Abstrakt:	Background: Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. In this study, we describe a variant in the MHY7 gene, segregating in a family having three different phenotypes of cardiomyopathies. MYH7 encodes for the myosin heavy-chain β (MHC-β) isoform involved in cardiac muscle contractility. Method and Results: We present the case of a family with four members diagnosed with HCM and four members with DCM. The proband is a 42-year-old man diagnosed with HCM. He has an extended family of eight siblings; two of them are diagnosed with HCM and are implantable cardioverter-defibrillator (ICD) carriers. One of the siblings died at the age of 23 after suffering a sudden cardiac arrest and DCM of unknown etiology which was diagnosed at autopsy. Another brother was diagnosed with DCM during a routine echocardiographic exam. Genetic testing was performed for the proband and two of his siblings and a niece of the proband, who suffered a cardiac arrest at the age of nine, all being MYH7 mutation positive. For all four of them, cardiac imaging was performed with different findings. They are ICD carriers as well. Conclusions: Our results reveal three variants in phenotypes of cardiomyopathies in a family with MYH7 mutation associated with high SCD risk and ICD needed for primary and secondary prevention.
Databáze:	MEDLINE
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