The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry

Abstract

This large, multicentre study identifies contemporary challenges related to the diagnosis and prognostication of CPVT patients. Structural modelling of RyR2 can improve our understanding severe CPVT phenotypes. Wakeful rest, rather than exertion, often precipitated life-threatening cardiac events.

The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disease characterized by syncope or cardiac arrest triggered by physical exercise or emotional stress [71]. It has a higher prevalence in males and typically occurs in individuals without cardiac abnormalities, with sudden cardiac death as the first symptom [48,72,73]. CPVT type 1 is caused by a gain of function mutations in the cardiac ryanodine receptor type 2 gene (RYR2), the ion channel responsible for releasing calcium from the SR into the cytosol.…”

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus on risk assessment in cardiac arrhythmias: use the right tool for the right outcome, in the right population

“…The main primary inherited arrhythmia syndromes, i.e. the ‘channelopathies’ are LQTS, Brugada syndrome and CPVT 402 . Patients that are symptomatic (syncope, cardiac arrest) at the time of presentation are at highest risk, with arrhythmic syncope representing a sentinel sign of risk, and resuscitated cardiac arrest reflecting the highest risk cohort 97 .…”

Chronotropic incompetence as a risk predictor in children and young adults with catecholaminergic polymorphic ventricular tachycardia

“…Early data suggested that CPVT had an unfavorable natural history with nearly 80% of affected patients suffering a life‐threatening cardiac event by 40 years of age, and treatment failures and device complications remain common . In the current era of cascade genetic screening, there is a growing population of phenotypically silent CPVT patients . This observation creates additional dilemmas as optimal management of these patients is unknown, and risk stratification tools are dangerously lacking.…”

“…[2][3][4] In the current era of cascade genetic screening, there is a growing population of phenotypically silent CPVT patients. [5][6][7] This observation creates additional dilemmas as optimal management of these patients is unknown, and risk stratification tools are dangerously lacking. The EST provides data on VE burden which is a predictor of subsequent cardiac events.…”