A candidate gene analysis of arrhythmogenic right ventricular cardiomyopathy (ARVC)

• Main Author: Du Preez, Janine
• Other Authors: Mayosi, Bongani M
• Format: Dissertation
• Language: English
• Published: University of Cape Town 2014
• Subjects: Human Genetics
• Online Access: http://hdl.handle.net/11427/3092

Includes bibliographical references (leaves 84-90). === Heart failure is a major public health problem throughout the world. In South Africa 17% of mortality is attributed to cardiovascular disease (CVD). Heart failure may be either ischemic or non-ischemic in origin. A significant proportion of non-ischemic heart failur is due to cardiomyopathy. There are currently five types of cardiomyopathy recognised, of which arrhythmogenic right ventricular cardiomyopathy (ARVC) is one. ARVC is familial in 30 to 50% of cases and it is inherited in an autosomal dominant or an autosomal recessive manner. Twelve chromosomal loci have been linked to ARVC and six genes have been identified. In 2004 Asano and colleagues reported a mouse model of ARVC that established LAMRI and CBX5 as candidate genes for the human form of ARVC.