کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5589010 1569458 2017 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 60, Issue 5, May 2017, Pages 233-238
نویسندگان
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