کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3007089 1578933 2016 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young
ترجمه فارسی عنوان
جهش های تتین تعطیل: یک علت نادر کایومیوپاتی خفیف در جوان است
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
چکیده انگلیسی

Truncating mutations in the TTN gene are the most common genetic cause of dilated cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations in adolescents was similar to adults, but surprisingly few truncating TTN mutations were identified in affected children, including one confirmed de novo variant. In several cases, truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional clinical or genetic risk factors. These findings have implications for genetic testing and suggest that single truncating TTN mutations are insufficient alone to cause pediatric-onset dilated cardiomyopathy.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Progress in Pediatric Cardiology - Volume 40, March 2016, Pages 41–45
نویسندگان
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