July 22, 2002
The ryanodine receptor type 2 (RyR2) mutation linked to juvenile sudden death can be clinically silent, without symptoms including inducibility on electrophysiologic (EP) testing. Because beta-blockers are highly protective, authors of a study published in the July 17 issue of the Journal of the American College of Cardiology believe that family members of individuals with the disease should be screened for the genetic abnormality to facilitate preventive strategies.
“We sought to establish the role of genetic screening for RyR2 gene mutations in families with effort-induced polymorphic ventricular arrhythmia (PVA), syncope and juvenile sudden death,” write Barbara Bauce, MD, PhD, and colleagues from the University of Padua Medical School in Italy.
“The RyR2 mutations have been associated with PVA, syncope and sudden death in response to physical or emotional stress.” Of 81 subjects in eight families with pathogenic RyR2 mutations, 39 were males and 42 were females. Mean age was 31±20 years. All subjects had screening for RyR2 mutations, electrocardiography (ECG), 24-hour Holter monitoring, signal-averaged electrocardiography (SAECG), two-dimensional echocardiography, and exercise stress testing. Nine patients also had an EP study.
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