期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 55, 期 4, 页码 225-234出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.02.007
关键词
Sudden cardiac death; Arrhythmogenic right ventricular; cardiomyopathy/dysplasia; Genetic testing
资金
- Consejo Superior de Deportes/Ministerio de la Presidencia [003/UPB10/11]
- CNIC-Translational [CNIC-03-2008]
- Spanish Ministry of Health [PI11/00699]
- Red Cooperativa de Insuficiencia Cardiaca (REDINSCOR) [RD06/03/0018]
- Eugenio Rodriguez Pascual Foundation
- Obra Social la Caixa
- Instituto de Salud Carlos III
- Universitat de Girona
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare cardiac genetic disease characterized by the presence of structural alterations in the right ventricle which may cause ventricular arrhythmias and may induce sudden cardiac death. ARVC/D has been associated with mutations in genes encoding myocyte adhesion proteins. However, only 30%-50% of patients have mutations in these genes. Genetic testing is useful in obtaining a diagnosis, particularly in individuals who do not completely fulfill clinical criteria, thereby also enabling the undertaking of preventive strategies in family members. The main goal of this study was to identify mutations in candidate genes associated with intercalate disks that could be potentially involved in ARVC/D pathogenesis. We analyze a cohort of 14 Spanish unrelated patients clinically diagnosed with ARVC/D without any genetic alteration in all previously known responsible genes. Thus, a genetic screening has been performed in 7 additional potential candidate genes (ACTC1 - actin alpha cardiac muscle 1-, CDHN -cadherin 2 type 1 or N-cadherin-, CTNNA1 -catenin alpha 1-, Cx43 or GJA1 -gap junction protein alpha 1-, MVCL -Metavinculin-, MYL2 -myosin light chain 2-and MYL3 -myosin light chain 3-) by direct sequencing analysis. Our genetic analysis did not identify any disease-causing mutation. Thirty single nucleotides polymorphisms were found, six of them novel. In conclusion, our ARVC/D Spanish cohort has not shown any mutations in the analyzed candidate genes despite their involvement in formation and maintenance of the intercalated disk. (c) 2012 Elsevier Masson SAS. All rights reserved.
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