کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2928275 1176198 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
چکیده انگلیسی

Brugada syndrome is an inherited cardiac arrhythmia that follows autosomal dominant transmission and can cause sudden death. We report a case of Brugada syndrome in a 55-year-old male patient presented with recurrent palpitation, atypical chest pain and presyncope. ECG changes were consistent with type 1 Brugada. Gene analysis revealed a novel missense mutation in SCN5A gene with a genetic variation of D785N and a nucleotide change at 2353G-A. One of his children also had the same mutation. To our knowledge this is the first genetically proved case of Brugada syndrome in Bangladesh.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Indian Heart Journal - Volume 66, Issue 1, January–February 2014, Pages 104–107
نویسندگان
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