Why the study?
What is the frequency of RYR2, CASQ2, and KCNJ2 mutations in Japanese patients with CPVT, and how do these genotypes correlate with clinical phenotypes?
Population
50 Japanese probands from unrelated families who satisfied clinical criteria for catecholaminergic…
Comparison
Genetic testing in all exons on 3 CPVT-related… vs RYR2-genotyped versus non-genotyped patient groups
Design
Cohort
Authors
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May inform family screening to prevent SCD in CPVT; extends RYR2 prevalence data to Japanese cohorts.
What is the frequency of RYR2, CASQ2, and KCNJ2 mutations in Japanese patients with CPVT, and how do these genotypes correlate with clinical phenotypes?
Genetic screening of Japanese CPVT patients reveals a high prevalence of RYR2 mutations, which are associated with higher disease penetrance and frequency of bidirectional ventricular tachycardia, highlighting the importance of genetic testing to prevent sudden cardiac death in family members.
Kawamura et al. (2013) studied this question.
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