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MeSH Review:

Arrhythmogenic Right Ventricular Dysplasia

Beffagna, G. et al., Yoshioka, N. et al., Bauce, B. et al., Racette, S. et al., Pilichou, K. et al.

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Disease relevance of Arrhythmogenic Right Ventricular Dysplasia

OBJECTIVE: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous disorder characterized by fibro-fatty replacement of the right ventricular myocardium, associated with high risk of sudden death [1].

High impact information on Arrhythmogenic Right Ventricular Dysplasia

AIMS: To characterize the clinical profile of patients belonging to families affected with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations of the gene encoding for the cell-to-cell adhesion protein desmoplakin (DSP) [2].
Electrocardiographic and echocardiographic evaluations in 18 patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and 29 family members (25 males and 25 females from 7 pedigrees) aged 5 to 64 years (mean +/- 1 SD 30 +/- 16) revealed that 5 of 28 ARVC family members (17%) fulfilled ARVC Task Force criteria [3].
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive myocardial atrophy with fibrofatty replacement [4].
Arrhythmogenic right ventricular cardiomyopathy (ARVC), also known as arrhythmogenic right ventricular dysplasia, is a known cause of sudden unexplained death in young, otherwise healthy adults [5].

Gene context of Arrhythmogenic Right Ventricular Dysplasia

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1 [1].

References

Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Beffagna, G., Occhi, G., Nava, A., Vitiello, L., Ditadi, A., Basso, C., Bauce, B., Carraro, G., Thiene, G., Towbin, J.A., Danieli, G.A., Rampazzo, A. Cardiovasc. Res. (2005) [Pubmed]
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. Bauce, B., Basso, C., Rampazzo, A., Beffagna, G., Daliento, L., Frigo, G., Malacrida, S., Settimo, L., Danieli, G., Thiene, G., Nava, A. Eur. Heart J. (2005) [Pubmed]
Electrocardiographic and echocardiographic abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy and in their pedigrees. Yoshioka, N., Tsuchihashi, K., Yuda, S., Hashimoto, A., Uno, K., Nakata, T., Shimamoto, K. Am. J. Cardiol. (2000) [Pubmed]
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Pilichou, K., Nava, A., Basso, C., Beffagna, G., Bauce, B., Lorenzon, A., Frigo, G., Vettori, A., Valente, M., Towbin, J., Thiene, G., Danieli, G.A., Rampazzo, A. Circulation (2006) [Pubmed]
Arrhythmogenic right ventricular cardiomyopathy/dysplasia mimicking rape homicide: a case report. Racette, S., Sauvageau, A. Medicine, science, and the law. (2005) [Pubmed]

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