The 83rd Annual Scientific Meeting of the Japanese Circulation Society

Symposium
Precision Medicine in Inherited Arrhythmias

ENGLISH

Chairperson: Wataru Shimizu
(Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School)
Since whole-genome information of human was deciphered in 2001, genotype-phenotype correlation has been rigorously investigated in cardiovascular diseases over past two decades as post-genome era. Among inherited arrhythmias, the responsible genes related to ion channel or membrane component have been identified in 75% of patients with congenital long QT syndrome, and genotype-specific management and pharmacological therapy, so-called precision medicine, have been already practiced. More recently, mutation site- or mutation type-specific risk stratification has been introduced. Other inherited arrhythmias include Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), arrhythmogenic right ventricular cardiomyopathy (ARVC), short QT syndrome (SQTS), and early repolarization syndrome (ERS). Although BrS is recently believed to be multifactorial genetic disorder, SCN5A mutation was recently reported to be a significant predictor of cardiac events in Japanese probands with BrS. Moreover, mutations in ryanodine receptor gene (RYR2) are identified in more than 50% of patients with CPVT, and mutations in genes encoding for cytoskeletal and desmosomal proteins have been reported in ARVC patients, in both of whom genotype-phenotype correlation have been evaluated.
In this symposium, expert physicians and researchers are welcome to present their own clinical and experimental data and to provide a comprehensive discussion for the growing cutting-edge of precision medicine in inherited arrhythmias.

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