کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2945607 1577159 2013 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy : A Practical Guide for Physicians
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy : A Practical Guide for Physicians
چکیده انگلیسی

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically transmitted disease. However, the genetics are more complex than in other inherited conditions wherein a single gene abnormal mutation may be causative. In ARVC, 5 causative desmosomal genes have been identified, but because only 30% to 50% of patients with ARVC have 1 of these gene abnormalities, it is assumed that there are other genes not yet identified. Frequently, patients with ARVC have >1 genetic defect in the same gene (compound heterozygosity) or in a second complementary gene (digenic heterozygosity). In addition, a family member may have an ARVC gene defect and have development of the disease or have no or minimal manifestations of the disease. Clinical genetic testing is commercially available. It is beneficial for first-degree family members of a person with ARVC to have genetic testing but only if there is a known genetic abnormality in the affected person. If the affected family member (proband) with ARVC does not have a genetic defect identified, then it will not be identified in the family member. Genetic counseling is strongly advised for family members of the proband.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the American College of Cardiology - Volume 61, Issue 19, 14 May 2013, Pages 1945–1948
نویسندگان
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