Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
ARVD1
Introduction
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 1;
Overview
Overview
Pathophysiology
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
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
Natural History, Complications, Prognosis
Diagnosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
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
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]