کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2916906 1175650 2014 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation
چکیده انگلیسی

A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated symmetrical left ventricular hypertrophy with minimal diastolic dysfunction. Subsequent investigations confirmed the diagnosis of Fabry cardiomyopathy. This is the first reported case of Klinefelter syndrome with homozygous sex-linked recessive mutation presenting primarily with cardiac manifestation.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Heart, Lung and Circulation - Volume 23, Issue 12, December 2014, Pages 1149–1152
نویسندگان
, , , , , ,