Post by Saskia van der Crabben

In our recent publication we describe a series of patients and their families with catecholaminergic polymorphic ventricular tachycardia (CPVT) caused by the same unique RYR2 A4510T variant, remarkably associated with both autosomal dominant and recessive inheritance. It shows: 📍that clinical phenotypes do not always follow expected inheritance patterns 📍the importance of multidisciplinary segregation analysis in case of hot/suspicious VUS (variants of unknown significance) 📍the value of reclassifying VUS enabling cascade genetic screening to identify and treat other relatives at risk for (aborted) sudden cardiac arrest Many thanks to a great team of coauthors: Auke Bergeman Peter Lauffer Johanna Herkert Frederik van den Heuvel Sally-Ann Clur Alexa Vermeer Sander (A.J.A.) Groffen Jan Jongbloed Ingrid Krapels Christian Schroer Sabine Eijsbouts Paul Volders Vincent van der Pas Shanshan Tian Hai-Lei Zhu Ruiwi Wang John Paul Ellistore Arthur Wilde Christian van der Werf S R Wayne Chen #cardiogenetics #multidisciplinary #VUS reclassification #RYR2 #CPVT #genetic counseling