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A Family with Myh7 Mutation and Different Forms of Cardiomyopathies

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 card...

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Autores principales: Catrina, Bianca Iulia, Batar, Florina, Baltat, Georgiana, Bitea, Cornel Ioan, Puia, Andreea, Stoia, Oana, Fleacă, Sorin Radu, Teodoru, Minodora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377388/
https://www.ncbi.nlm.nih.gov/pubmed/37509704
http://dx.doi.org/10.3390/biomedicines11072065
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author Catrina, Bianca Iulia
Batar, Florina
Baltat, Georgiana
Bitea, Cornel Ioan
Puia, Andreea
Stoia, Oana
Fleacă, Sorin Radu
Teodoru, Minodora
author_facet Catrina, Bianca Iulia
Batar, Florina
Baltat, Georgiana
Bitea, Cornel Ioan
Puia, Andreea
Stoia, Oana
Fleacă, Sorin Radu
Teodoru, Minodora
author_sort Catrina, Bianca Iulia
collection PubMed
description 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.
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spelling pubmed-103773882023-07-29 A Family with Myh7 Mutation and Different Forms of Cardiomyopathies Catrina, Bianca Iulia Batar, Florina Baltat, Georgiana Bitea, Cornel Ioan Puia, Andreea Stoia, Oana Fleacă, Sorin Radu Teodoru, Minodora Biomedicines Case Report 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. MDPI 2023-07-22 /pmc/articles/PMC10377388/ /pubmed/37509704 http://dx.doi.org/10.3390/biomedicines11072065 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Catrina, Bianca Iulia
Batar, Florina
Baltat, Georgiana
Bitea, Cornel Ioan
Puia, Andreea
Stoia, Oana
Fleacă, Sorin Radu
Teodoru, Minodora
A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
title A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
title_full A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
title_fullStr A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
title_full_unstemmed A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
title_short A Family with Myh7 Mutation and Different Forms of Cardiomyopathies
title_sort family with myh7 mutation and different forms of cardiomyopathies
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377388/
https://www.ncbi.nlm.nih.gov/pubmed/37509704
http://dx.doi.org/10.3390/biomedicines11072065
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