ARVD1

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 1;

Overview

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.^[1]

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.

Natural History, Complications, Prognosis

Diagnosis

Symptoms

Electrocardiogram

Echocardiogram

MRI

References

↑ Rampazzo A, Beffagna G, Nava A et-al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur. J. Hum. Genet. 2003;11 (1): 69-76. doi:10.1038/sj.ejhg.5200914 – Pubmed citation

CME Category::Cardiology

[1] Rampazzo A, Beffagna G, Nava A et-al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur. J. Hum. Genet. 2003;11 (1): 69-76. doi:10.1038/sj.ejhg.5200914 – Pubmed citation

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