Details

Autor(en) / Beteiligte

• Oon, Y Y
• Koh, K T
• Khaw, C S
• Mohd Amin, N H
• Ong, T K

Titel

Phenotypic variation among siblings with arrhythmogenic right ventricular cardiomyopathy

Ist Teil von

• Medical journal of Malaysia, 2019-08, Vol.74 (4), p.328-330

Ort / Verlag

Malaysia

Erscheinungsjahr

2019

Link zum Volltext

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Arrhythmogenic right ventricular cardiomyopathy (ARVC) is primarily a familial disease with autosomal dominant inheritance. Incomplete penetrance and variable expression are common, resulting in broad disease spectrum. Three patterns of phenotypic expression have been described: (1) "classic" subtype, with predominant right ventricle involvement, (2) "left dominant" subtype, with early and dominant left ventricle involvement, and (3) "biventricular" subtype, with both ventricles equally affected. Genotypephenotype associations have been described, but there are other genetic and non-genetic factors that can affect disease expression. We describe two different phenotypic expressions of ARVC in a family.