Journal Article

P.3. Basic Science, Sudden Death Risk Stratification and Ventricular Arrhythmias

K. Pillichou, G. Beffagna, A. Nava, A. Lorenzon, B. Bauce, C. Basso, G. Thiene, G.A. Danieli and A. Rampazzo

in EP Europace

Published on behalf of European Heart Rhythm Association of the European Society of Cardiology (ESC)

Volume 7, issue s3, pages S51-S51
Published in print October 2005 | ISSN: 1099-5129
Published online October 2005 | e-ISSN: 1532-2092 | DOI: http://dx.doi.org/10.1016/j.eupc.2005.08.213
P.3. Basic Science, Sudden Death Risk Stratification and Ventricular Arrhythmias

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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is characterized by fibrous-fatty replacement of right ventricular myocardium, by arrhythmias with left bundle branch block pattern and by risk of juvenile sudden death. The aim of the present study was to perform a systematic screening of three ARVC genes (DSP, PKP2, tgfb3) in a cohort of patients, to evaluate the distribution of disease genes.

Mutation screening was performed by DHPLC and direct sequencing in 55 unrelated index cases for desmoplakin gene and in 35 patients for plakophilin and tgfb3, so far.

Ten novel mutations were detected in DSP gene in patients with a familial history of sudden death, accounting for about 20% of cases, while seven novel mutations were identified in PKP2 gene (20%) and two mutations in tgfb3 (6%).

None of these mutations was detected in 200 reference alleles.

Clinical expression of the different mutations was very heterogeneous and varied within and between families with no apparent mutation- or gene-specific disease pattern. Two genes (DSP and PKP2) account for about 40% of genotyped patients and should be systematically tested as a first approach.

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Subjects: Cardiovascular Medicine

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