Multidisciplinary Studies on Molecular Pathogenesis of Inherited Primary Arrhythmia Syndromes

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Since 1996, we have collected both detailed clinical data and genome from patients with cardiovascular problems, especially with inherited primary arrhythmia syndromes (IPAS). We have registered ~3,500 cases (~1,700 families) and conducted genetic testing. As to probands with congenital long QT syndrome, more than half of them could be identified, as to those with Brugada syndrome, ~10% was identified to have SCN5A mutations. However, all the identified genetic variants were not necessarily pathogenic. Based on multidisciplinary approaches, including functional assay of mutant channels by patch-clamp method or computer simulation technique, we could evaluate the genotype-phenotype relation in regard to IPAS.