arrhythmias
arrhythmogenic cardiomyopathy
arrhythmogenic right ventricular cardiomyopathy
dilated cardiomyopathy
filamin C
sudden cardiac death
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
04
07
2019
revised:
13
10
2019
accepted:
22
12
2019
pubmed:
12
1
2020
medline:
5
2
2021
entrez:
12
1
2020
Statut:
ppublish
Résumé
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and is part of the spectrum of arrythmogenic cardiomyopathies (ACMs). ARVC is a genetic condition; however, a pathogenic gene variant is found in only half of patients. Filamin C gene truncations ( One hundred fifty-six patients meeting 2010 ARVC Task Force Criteria and lacking variants in known ARVC genes were evaluated for We identified two unique The identification of
Sections du résumé
BACKGROUND
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and is part of the spectrum of arrythmogenic cardiomyopathies (ACMs). ARVC is a genetic condition; however, a pathogenic gene variant is found in only half of patients.
OBJECTIVE
Filamin C gene truncations (
METHODS
One hundred fifty-six patients meeting 2010 ARVC Task Force Criteria and lacking variants in known ARVC genes were evaluated for
RESULTS
We identified two unique
CONCLUSION
The identification of
Identifiants
pubmed: 31924696
pii: jmedgenet-2019-106394
doi: 10.1136/jmedgenet-2019-106394
pmc: PMC7539291
mid: NIHMS1633225
doi:
Substances chimiques
FLNC protein, human
0
Filamins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
254-257Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL147064
Pays : United States
Organisme : American Heart Association-American Stroke Association
ID : 17GRNT33670495
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002535
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL069071
Pays : United States
Organisme : NCRR NIH HHS
ID : M01 RR000051
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001082
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL116906
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL109209
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001079
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
J Am Coll Cardiol. 2014 Jul 22;64(3):302-3
pubmed: 25034068
J Am Coll Cardiol. 2019 Sep 17;74(11):1480-1490
pubmed: 31514951
Circ Res. 2017 Sep 15;121(7):784-802
pubmed: 28912183
Circ Res. 2017 Sep 15;121(7):731-748
pubmed: 28912180
J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451
pubmed: 27908349
Circ Cardiovasc Genet. 2010 Aug;3(4):314-22
pubmed: 20716751
JACC Basic Transl Sci. 2016 Aug;1(5):344-359
pubmed: 28008423
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Eur Heart J. 2010 Apr;31(7):806-14
pubmed: 20172912
Heart Fail Clin. 2018 Apr;14(2):201-213
pubmed: 29525648
Nat Commun. 2014 Oct 29;5:5326
pubmed: 25351925
Annu Rev Biophys. 2012;41:227-46
pubmed: 22404683
Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8
pubmed: 26582918
Rev Neurol (Paris). 2016 Oct;172(10):594-606
pubmed: 27633507
N Engl J Med. 2017 Jan 5;376(1):61-72
pubmed: 28052233
Lancet. 2009 Apr 11;373(9671):1289-300
pubmed: 19362677
Hum Mutat. 2016 Mar;37(3):269-79
pubmed: 26666891
Eur Heart J. 2015 May 7;36(18):1123-35a
pubmed: 25163546
Eur J Heart Fail. 2012 Nov;14(11):1199-207
pubmed: 22820313
JACC Clin Electrophysiol. 2018 Apr;4(4):504-514
pubmed: 30067491
Heart Rhythm. 2019 Nov;16(11):e301-e372
pubmed: 31078652