Why the study?
Familial CPVT cases are very rare in Japan despite RYR2 mutations occurring in 50 to 60% of patients.
Early genetic diagnosis in families with CPVT allows for effective primary prevention of sudden cardiac death using beta-blockers, flecainide, and ICDs, even in asymptomatic young relatives.
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Saito et al. (2021) studied this question.
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