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Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation

Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She pr...

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Autores principales: Rico, Yolanda, Ramis, Maria Francisca, Massot, Montse, Torres-Juan, Laura, Pons, Jaume, Fortuny, Elena, Ripoll-Vera, Tomas, González, Rosa, Peral, Vicente, Rossello, Xavier, Heine Suñer, Damià
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701882/
https://www.ncbi.nlm.nih.gov/pubmed/34946838
http://dx.doi.org/10.3390/genes12121889
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author Rico, Yolanda
Ramis, Maria Francisca
Massot, Montse
Torres-Juan, Laura
Pons, Jaume
Fortuny, Elena
Ripoll-Vera, Tomas
González, Rosa
Peral, Vicente
Rossello, Xavier
Heine Suñer, Damià
author_facet Rico, Yolanda
Ramis, Maria Francisca
Massot, Montse
Torres-Juan, Laura
Pons, Jaume
Fortuny, Elena
Ripoll-Vera, Tomas
González, Rosa
Peral, Vicente
Rossello, Xavier
Heine Suñer, Damià
author_sort Rico, Yolanda
collection PubMed
description Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM.
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spelling pubmed-87018822021-12-24 Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation Rico, Yolanda Ramis, Maria Francisca Massot, Montse Torres-Juan, Laura Pons, Jaume Fortuny, Elena Ripoll-Vera, Tomas González, Rosa Peral, Vicente Rossello, Xavier Heine Suñer, Damià Genes (Basel) Article Dilated cardiomyopathy (DCM) has significant morbidity and mortality. Familial transmission is reported in 20–35% of cases, highlighting the role of genetics in this disorder. We present an interesting family in which the index case is a 64-year-old woman who survived a sudden cardiac arrest. She presented left ventricular dilatation and dysfunction, which indicated the presence of DCM, as well as a history of DCM and sudden arrest in her family (mother and sister). Genetic testing identified a heterozygous mutation c.74A > G missense change that causes an amino acid, p.Glu25Gly, change in the N-terminal domain of the SCN5A protein. After performing an exhaustive family medical history, we found that this previously not described mutation segregated within the family. All relatives with the DCM phenotype were carriers, whereas none of the noncarriers showed signs of heart disease, so this mutation is the most likely cause of the disease. This is the first time that a variant in the N-terminal domain of SCN5A has been associated with DCM. MDPI 2021-11-25 /pmc/articles/PMC8701882/ /pubmed/34946838 http://dx.doi.org/10.3390/genes12121889 Text en © 2021 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 Article
Rico, Yolanda
Ramis, Maria Francisca
Massot, Montse
Torres-Juan, Laura
Pons, Jaume
Fortuny, Elena
Ripoll-Vera, Tomas
González, Rosa
Peral, Vicente
Rossello, Xavier
Heine Suñer, Damià
Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
title Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
title_full Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
title_fullStr Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
title_full_unstemmed Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
title_short Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation
title_sort familial dilated cardiomyopathy and sudden cardiac arrest: new association with a scn5a mutation
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701882/
https://www.ncbi.nlm.nih.gov/pubmed/34946838
http://dx.doi.org/10.3390/genes12121889
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