TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.
ACMG, American College of Medical Genetics and Genomics
ECG, electrocardiographic
HCM, Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
ICD, Implantable Cardioverter-Defibrillator
KCNQ1
LGE, late gadolinium enhancement, late gadolinium enhancement
LQTS, long-QT syndrome
Long QT syndrome
NGS, Next Generation Sequencing
Next generation sequencing
TNNI3
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
22
01
2021
revised:
26
02
2021
accepted:
04
03
2021
entrez:
29
3
2021
pubmed:
30
3
2021
medline:
30
3
2021
Statut:
epublish
Résumé
QTc prolongation is reported in patients with hypertrophic cardiomyopathy (HCM). However, the causes of the QTc interval increase remain unclear. The main contribution to QTc prolongation in HCM is attributed to the myocardial hypertrophy and related structural damage. In a 24-year-old male proband, affected by HCM and long QTc, we identified by Next Generation Sequencing a pathogenic variant in gene
Identifiants
pubmed: 33777698
doi: 10.1016/j.ymgmr.2021.100743
pii: S2214-4269(21)00037-9
pmc: PMC7985525
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100743Informations de copyright
© 2021 The Authors.
Déclaration de conflit d'intérêts
None.
Références
Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):E5383-92
pubmed: 25453094
Cardiovasc Res. 2005 Aug 15;67(3):476-86
pubmed: 15935335
J Am Coll Cardiol. 2012 Aug 21;60(8):705-15
pubmed: 22796258
Genet Med. 2017 Feb;19(2):192-203
pubmed: 27532257
Eur Heart J. 2010 Feb;31(4):439-49
pubmed: 19897498
Open Heart. 2017 Oct 21;4(2):e000658
pubmed: 29118996
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
JACC Heart Fail. 2013 Apr;1(2):149-55
pubmed: 24621839
Eur Heart J. 2014 Oct 14;35(39):2733-79
pubmed: 25173338
Heart Rhythm. 2007 Dec;4(12):1568-72
pubmed: 17980675
Heart Rhythm. 2009 Sep;6(9):1297-303
pubmed: 19716085
Heart Rhythm. 2012 Jan;9(1):57-63
pubmed: 21839045
J Cardiovasc Electrophysiol. 2015 Dec;26(12):1346-51
pubmed: 26332198
J Am Coll Cardiol. 2014 Dec 23;64(24):2589-2600
pubmed: 25524337
Europace. 2016 Apr;18(4):602-9
pubmed: 25825456
J Mol Cell Cardiol. 2005 Feb;38(2):387-93
pubmed: 15698845
Circulation. 2000 Sep 5;102(10):1178-85
pubmed: 10973849
Heart Rhythm. 2005 May;2(5):507-17
pubmed: 15840476
Eur Heart J. 2011 May;32(9):1114-20
pubmed: 21345853
Circ J. 2012;76(2):453-61
pubmed: 22112859
Mol Med Today. 1998 Sep;4(9):382-8
pubmed: 9791861