TY - CHAP
T1 - Catecholaminergic Polymorphic Ventricular
AU - Denjoy, Isabelle
AU - Maltret, Alice
AU - Lieve, Krystien V.
AU - van der Werf, Christian
AU - Leenhardt, Antoine
PY - 2020/1/1
Y1 - 2020/1/1
N2 - CPVT is a rare arrhythmogenic disorder characterized by adrenergic-induced bidirectional and polymorphic ventricular tachycardia (VT). Key features include polymorphic VT reproducibly induced during exercise test, isoproterenol infusion or emotion and exercise. CPVT occurs in children and adolescents and causes syncope and sudden cardiac death at a young age, in absence of structural heart disease. The resting electrocardiogram (ECG), including the QTc interval, is normal. There is a clear correlation between the age of the first syncope and the severity of the disease, with the worst prognosis in case of early occurrence. Mutations in different genes have been related to the disease: the cardiac ryanodine receptor gene (RyR2) and the calsequestrin gene (CASQ2) most frequently and more recently in the calmodulin genes (CALM) and the triadin gene (TRDN). Beta-blockers without intrinsic sympathomimetic activity are clinically effective in reducing syncope. However, arrhythmic event rate on beta-blocker therapy remains significant, and combination with pharmacological (flecainide) and non-pharmacological (sympathectomy, AICD) therapies should be discussed. Given the high lethality rate in the absence of treatment, family screening is mandatory.
AB - CPVT is a rare arrhythmogenic disorder characterized by adrenergic-induced bidirectional and polymorphic ventricular tachycardia (VT). Key features include polymorphic VT reproducibly induced during exercise test, isoproterenol infusion or emotion and exercise. CPVT occurs in children and adolescents and causes syncope and sudden cardiac death at a young age, in absence of structural heart disease. The resting electrocardiogram (ECG), including the QTc interval, is normal. There is a clear correlation between the age of the first syncope and the severity of the disease, with the worst prognosis in case of early occurrence. Mutations in different genes have been related to the disease: the cardiac ryanodine receptor gene (RyR2) and the calsequestrin gene (CASQ2) most frequently and more recently in the calmodulin genes (CALM) and the triadin gene (TRDN). Beta-blockers without intrinsic sympathomimetic activity are clinically effective in reducing syncope. However, arrhythmic event rate on beta-blocker therapy remains significant, and combination with pharmacological (flecainide) and non-pharmacological (sympathectomy, AICD) therapies should be discussed. Given the high lethality rate in the absence of treatment, family screening is mandatory.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85150080697&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/36686569
U2 - https://doi.org/10.1007/978-3-030-45457-9_15
DO - https://doi.org/10.1007/978-3-030-45457-9_15
M3 - Chapter
C2 - 36686569
SN - 9783030454562
T3 - Clinical Cardiogenetics: Third Edition
SP - 247
EP - 257
BT - Clinical Cardiogenetics: Third Edition
PB - Springer International Publishing
ER -