Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia


Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome typified by physical or emotional stress–induced polymorphic ventricular tachycardia (VT) in the absence of structural heart disease and apparent 12-lead ECG abnormalities. CPVT is associated with mutations in the gene encoding the cardiac ryanodine receptor (RYR2) in 60% to 70% of patients. After identification of a pathogenic RYR2 mutation in a CPVT patient (the proband), relatives carrying the familial mutation can be identified after cascade screening, and preventive measures can be taken. Current knowledge of the clinical

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@inproceedings{Werf2012FamilialEI, title={Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia}, author={Christian van der Werf and Ineke Nederend and van Geloven and Corn{\'e} Ebink and E . Frohn - Mulder and Marco W . Alings and Hans A . Bosker and Frank A . Bracke and Freek van den Heuvel and Reinier A . Waalewijn and H. Bikker and J . Peter van Tintelen and Zahurul A Bhuiyan and Maarten P . van den Berg and Arthur A . M . Wilde}, year={2012} }