Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation

被引：9
|
作者：
Kharbanda, Mira [1 ]
Hunter, Amanda [2 ]
Tennant, Stephen [3 ]
Moore, David [4 ]
Curtis, Stephanie [5 ]
Hancox, Jules C. [6 ]
Murday, Victoria [1 ]
机构：
[1] Queen Elizabeth Univ Hosp, West Scotland Clin Genet Serv, Level 2A Lab Med Bldg,1345 Govan Rd, Glasgow G51 4TF, Lanark, Scotland
[2] Royal Hosp Children, 1345 Govan Rd, Glasgow G51 4TF, Lanark, Scotland
[3] Ashgrove House, Dept Med Genet, Foresterhill, Aberdeen AB25 2ZA, Scotland
[4] Western Gen Hosp, Mol Genet, David Brock Bldg, Edinburgh EH4 2XU, Midlothian, Scotland
[5] Univ Hosp Bristol NHS Fdn Trust, Marlborough St, Bristol BS2 8HW, Avon, England
[6] Univ Walk, Sch Physiol Pharmacol & Neurosci, Biomed Sci Bldg, Bristol BS8 1TD, Avon, England
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2017年 / 60卷 / 05期
关键词：
Arrhythmias; Cardiomyopathy; Genetics; NON-COMPACTION; CARDIOMYOPATHY; SCN5A; MYOCARDIUM; MECHANISM; SUBUNITS; PATIENT;
D O I：
10.1016/j.ejmg.2017.02.003
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients. (C) 2017 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：233 / 238
页数：6
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