Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< 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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Autor*in:	Yolanda Rico [verfasserIn] Maria Francisca Ramis [verfasserIn] Montse Massot [verfasserIn] Laura Torres-Juan [verfasserIn] Jaume Pons [verfasserIn] Elena Fortuny [verfasserIn] Tomas Ripoll-Vera [verfasserIn] Rosa González [verfasserIn] Vicente Peral [verfasserIn] Xavier Rossello [verfasserIn] Damià Heine Suñer [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	dilated cardiomyopathy familial dilated cardiomyopathy genetic study novel mutation

Übergeordnetes Werk:	In: Genes - MDPI AG, 2010, 12(2021), 12, p 1889
Übergeordnetes Werk:	volume:12 ; year:2021 ; number:12, p 1889

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.3390/genes12121889

Katalog-ID:	DOAJ018806708

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spelling	10.3390/genes12121889 doi (DE-627)DOAJ018806708 (DE-599)DOAJ7b5ec52f33b841c8997bb4916950c97a DE-627 ger DE-627 rakwb eng QH426-470 Yolanda Rico verfasserin aut Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 <i<SCN5A</i< 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 <i<SCN5A</i< has been associated with DCM. dilated cardiomyopathy familial dilated cardiomyopathy genetic study <i<SCN5A</i< novel mutation Genetics Maria Francisca Ramis verfasserin aut Montse Massot verfasserin aut Laura Torres-Juan verfasserin aut Jaume Pons verfasserin aut Elena Fortuny verfasserin aut Tomas Ripoll-Vera verfasserin aut Rosa González verfasserin aut Vicente Peral verfasserin aut Xavier Rossello verfasserin aut Damià Heine Suñer verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1889 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1889 https://doi.org/10.3390/genes12121889 kostenfrei https://doaj.org/article/7b5ec52f33b841c8997bb4916950c97a kostenfrei https://www.mdpi.com/2073-4425/12/12/1889 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1889
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allfieldsGer	10.3390/genes12121889 doi (DE-627)DOAJ018806708 (DE-599)DOAJ7b5ec52f33b841c8997bb4916950c97a DE-627 ger DE-627 rakwb eng QH426-470 Yolanda Rico verfasserin aut Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 <i<SCN5A</i< 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 <i<SCN5A</i< has been associated with DCM. dilated cardiomyopathy familial dilated cardiomyopathy genetic study <i<SCN5A</i< novel mutation Genetics Maria Francisca Ramis verfasserin aut Montse Massot verfasserin aut Laura Torres-Juan verfasserin aut Jaume Pons verfasserin aut Elena Fortuny verfasserin aut Tomas Ripoll-Vera verfasserin aut Rosa González verfasserin aut Vicente Peral verfasserin aut Xavier Rossello verfasserin aut Damià Heine Suñer verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1889 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1889 https://doi.org/10.3390/genes12121889 kostenfrei https://doaj.org/article/7b5ec52f33b841c8997bb4916950c97a kostenfrei https://www.mdpi.com/2073-4425/12/12/1889 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1889
allfieldsSound	10.3390/genes12121889 doi (DE-627)DOAJ018806708 (DE-599)DOAJ7b5ec52f33b841c8997bb4916950c97a DE-627 ger DE-627 rakwb eng QH426-470 Yolanda Rico verfasserin aut Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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 <i<SCN5A</i< 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 <i<SCN5A</i< has been associated with DCM. dilated cardiomyopathy familial dilated cardiomyopathy genetic study <i<SCN5A</i< novel mutation Genetics Maria Francisca Ramis verfasserin aut Montse Massot verfasserin aut Laura Torres-Juan verfasserin aut Jaume Pons verfasserin aut Elena Fortuny verfasserin aut Tomas Ripoll-Vera verfasserin aut Rosa González verfasserin aut Vicente Peral verfasserin aut Xavier Rossello verfasserin aut Damià Heine Suñer verfasserin aut In Genes MDPI AG, 2010 12(2021), 12, p 1889 (DE-627)614096537 (DE-600)2527218-4 20734425 nnns volume:12 year:2021 number:12, p 1889 https://doi.org/10.3390/genes12121889 kostenfrei https://doaj.org/article/7b5ec52f33b841c8997bb4916950c97a kostenfrei https://www.mdpi.com/2073-4425/12/12/1889 kostenfrei https://doaj.org/toc/2073-4425 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 12 2021 12, p 1889
language	English
source	In Genes 12(2021), 12, p 1889 volume:12 year:2021 number:12, p 1889
sourceStr	In Genes 12(2021), 12, p 1889 volume:12 year:2021 number:12, p 1889
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institution	findex.gbv.de
topic_facet	dilated cardiomyopathy familial dilated cardiomyopathy genetic study <i<SCN5A</i< novel mutation Genetics
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container_title	Genes
authorswithroles_txt_mv	Yolanda Rico @@aut@@ Maria Francisca Ramis @@aut@@ Montse Massot @@aut@@ Laura Torres-Juan @@aut@@ Jaume Pons @@aut@@ Elena Fortuny @@aut@@ Tomas Ripoll-Vera @@aut@@ Rosa González @@aut@@ Vicente Peral @@aut@@ Xavier Rossello @@aut@@ Damià Heine Suñer @@aut@@
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callnumber-first	Q - Science
author	Yolanda Rico
spellingShingle	Yolanda Rico misc QH426-470 misc dilated cardiomyopathy misc familial dilated cardiomyopathy misc genetic study misc <i<SCN5A</i< misc novel mutation misc Genetics Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation
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topic_title	QH426-470 Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation dilated cardiomyopathy familial dilated cardiomyopathy genetic study <i<SCN5A</i< novel mutation
topic	misc QH426-470 misc dilated cardiomyopathy misc familial dilated cardiomyopathy misc genetic study misc <i<SCN5A</i< misc novel mutation misc Genetics
topic_unstemmed	misc QH426-470 misc dilated cardiomyopathy misc familial dilated cardiomyopathy misc genetic study misc <i<SCN5A</i< misc novel mutation misc Genetics
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title	Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation
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title_full	Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation
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author_browse	Yolanda Rico Maria Francisca Ramis Montse Massot Laura Torres-Juan Jaume Pons Elena Fortuny Tomas Ripoll-Vera Rosa González Vicente Peral Xavier Rossello Damià Heine Suñer
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title_sort	familial dilated cardiomyopathy and sudden cardiac arrest: new association with a <i<scn5a</i< mutation
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title_auth	Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation
abstract	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 <i<SCN5A</i< 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 <i<SCN5A</i< has been associated with DCM.
abstractGer	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 <i<SCN5A</i< 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 <i<SCN5A</i< has been associated with DCM.
abstract_unstemmed	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 <i<SCN5A</i< 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 <i<SCN5A</i< has been associated with DCM.
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container_issue	12, p 1889
title_short	Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation
url	https://doi.org/10.3390/genes12121889 https://doaj.org/article/7b5ec52f33b841c8997bb4916950c97a https://www.mdpi.com/2073-4425/12/12/1889 https://doaj.org/toc/2073-4425
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up_date	2024-07-03T20:06:08.823Z
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Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a <i<SCN5A</i< Mutation

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