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

Abstract：

: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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Kharbanda M,Hunter A,Tennant S,Moore D,Curtis S,Hancox JC,Murday V

doi

10.1016/j.ejmg.2017.02.003

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

233-238

issue

5

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(16)30296-8

journal_volume

60

pub_type

杂志文章

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