Heartbeat: can cardiogenetics reduce adverse events due to catecholaminergic polymorphic ventricular tachycardia?

A genetic diagnosis is of increasing importance in prevention of adverse events in patients with cardiovascular disease.1 For example, catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1) is usually due to a pathogenic variant in cardiac ryanodine receptor 2 (RYR2) and is inherited in a familial autosomal dominant pattern, but sporadic cases also have been reported. In this issue of Heart, Shimamoto and colleagues2 compared 24 probands with familial inheritance of CPVT1 to 58 patients with de novo variants. In both groups, almost 1/2 the probands presented with syncope or cardiac arrest before a genetic diagnosis was known. Symptom onset occurred earlier in those with a de novo variant compared with those with familial inheritance (figure 1). In addition, symptoms occurred in only 37.5% of genotype-positive parents versus 66.7% of siblings with the pathogenic variant. The authors conclude: ‘Because two-thirds of the genotype-positive parents...
Source: Heart - Category: Cardiology Authors: Tags: Heartbeat Source Type: research