Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

Conclusions
CPVT1 probands harbouring de novo RYR2 variants showed an earlier onset of symptoms than those with assured familial inheritance. Cascade screening may enable early diagnosis, risk stratification and prophylactic therapeutic intervention to prevent sudden cardiac death of probands and potential genotype-positive family members.

Source: Heart - May 12, 2022 Category: Cardiology Authors: Shimamoto, K., Ohno, S., Kato, K., Takayama, K., Sonoda, K., Fukuyama, M., Makiyama, T., Okamura, S., Asakura, K., Imanishi, N., Kato, Y., Sakaguchi, H., Kamakura, T., Wada, M., Yamagata, K., Ishibashi, K., Inoue, Y., Miyamoto, K., Nagase, S., Kusano, K., Tags: Open access, Editor's choice Arrhythmias and sudden death Source Type: research