Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian family.
Matthew K Y TungFilip Van PetegemSamantha LausonAshley CollierKathy HodgkinsonBridget FernandezSean ConnorsRick LeatherShubhayan SanataniLaura ArbourPublished in: Molecular genetics & genomic medicine (2020)
The substantial variability in phenotype and the lower than previously reported penetrance is illustrative of the importance of exploring family variants beyond first-degree relatives.