OBJECTIVE: Familial atrial fibrillation (FAF), a not uncommon arrhythmia of the atrium, is characterized by heritability, early onset and absence of other heart defects. The molecular and genetic basis is still not completely clear and genetic diagnosis cannot be achieved in about 90% of patients. In this study, we present the results of genetic screening by next generation sequencing in affected Russian families.
PATIENTS AND METHODS: Sixty subjects (18 probands and 42 relatives) with a clinical diagnosis of FAF were enrolled in the study. Since AF frequently associates with other cardiomyopathies, we included all genes that were known to be associated with these disorders at the time of our study. All probands were therefore systematically screened for 47 genes selected from the literature.
RESULTS: Our study revealed that seven variants co-segregated with the clinical phenotype in seven families. Interestingly, four out of six genes and three out of seven variants have already been associated with Brugada syndrome in the literature.
CONCLUSIONS: To our knowledge, this is the first report of association of the CACNA1C, CTNNA3, PKP2, ANK2 and SCN10A genes with FAF; it is also the first study in Russian families.Free PDF Download
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P.E. Maltese, E. Aldanova, N. Kriuchkova, A. Averianov, E. Manara, S. Paolacci, A. Bruson, R. Miotto, M. Sartori, G. Guerri, M. Zuntini, G. Marceddu, S. Tezzele, K. Tadtaeva, A. Chernova, N. Aksyutina, S. Nikulina, S. Nodari, M. Bertelli
Putative role of Brugada syndrome genes in familial atrial fibrillation
Eur Rev Med Pharmacol Sci
Vol. 23 - N. 17