ARVD1

Arrhythmogenic right ventricular dysplasia Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 1;

Pathophysiology

The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

Genetics

There is an autosomal dominant pattern of inheritance. This variant is due to a heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.

Epidemiology and Demographics

The incidence of ARVD is about 1/10,000 in the general population in the United States, although some studies have suggested that it may be as common as 1/1,000. It accounts for up to 17% of all sudden cardiac deaths in the young. In Italy, the incidence is 40/10,000, making it the most common cause of sudden cardiac death in the young population. It is more common in Northern Italy.

Gender

The male to female ratio is 3:1.