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.
ARVD2
Introduction
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 2; arrhythmogenic right ventricular cardiomyopathy 2; ARVC2
Overview
Overview
Arrhythmogenic right ventricular dysplasia type 2 is a “concealed form” of ARVD. There is no change in heart size. There are no EKG changes on the resting electrocardiogram, but there may be exercise induced polymorphic ventricular tachycardia[1] This variant is associated with premature death.
Pathophysiology
Pathophysiology
Although the heart is normal in size, on pathologic examination, there are large areas of fibro-fatty replacement in the subepicardial layer of the right ventricle.
There are also abnormalities in calcium hemostasis in the myocytes which may contribute to the occurrence of ventricular arrhythmias.[2]
Genetics
This variant (600996) is associated with a mutation in the RYR2 gene (180902) on chromosome 1q42-q43.[3]
Epidemiology and Demographics
Epidemiology and Demographics
Natural History, Complications, Prognosis
Natural History, Complications, Prognosis
This ARVD variant is associated with premature death.
Diagnosis
Diagnosis
Symptoms
Exercise induced polymorphic VT may be present.
Electrocardiogram
There are no EKG changes on the resting electrocardiogram, but there may be exercise induced polymorphic ventricular tachycardia.
References
References
- ↑ Rampazzo A, Nava A, Erne P et-al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Mol. Genet. 1995;4 (11): 2151-4. <a href=”http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=8589694“>Hum. Mol. Genet. (link)</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/8589694“>Pubmed citation</a>.
- ↑ Scoote M, Williams AJ. Myocardial calcium signalling and arrhythmia pathogenesis. Biochem. Biophys. Res. Commun. 2004;322 (4): 1286-309. <a href=”http://dx.doi.org/10.1016/j.bbrc.2004.08.034“>doi:10.1016/j.bbrc.2004.08.034</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/15336976“>Pubmed citation</a>
- ↑ Tiso N, Stephan DA, Nava A et-al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet. 2001;10 (3): 189-94. <a href=”http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11159936“>Hum. Mol. Genet. (link)</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/11159936“>Pubmed citation</a>
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]