Catecholaminergic polymorphic ventricular tachycardia, an update

Abstract

Catecholaminergic polymorphic ventricular tachycardia is a rare devastating lethal inherited disorder or sporadic cardiac ion channelopathy characterized by unexplained syncopal episodes, and/or sudden cardiac death (SCD), aborted SCD (ASCD), or sudden cardiac arrest (SCA) observed in children, adolescents, and young adults without structural heart disease, consequence of adrenergically mediated arrhythmias: exercise-induced, by acute emotional stress, atrial pacing, or β-stimulant infusion, even when the electrocardiogram is normal. The entity is difficult to diagnose in the emergency department, given the range of presentations; thus, a familiarity with and high index of suspicion for this pathology are crucial. Furthermore, recognition of the characteristic findings and knowledge of the management of symptomatic patients are necessary, given the risk of arrhythmia recurrence and SCA. In this review, we will discuss the concept, epidemiology, genetic background, genetic subtypes, clinical presentation, electrocardiographic features, diagnosis criteria, differential diagnosis, and management.

A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia

“…ß‐blockers form the cornerstone of management of CPVT; however, 30% of patients demonstrate inadequate response . Among β‐blockers, nadolol is more effective than β 1 ‐selective agents in suppressing arrhythmias in patients with CPVT .…”

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare (prevalence: 1/10,000) channelopathy characterized by premature ventricular contractions (PVCs), and monomorphic, bidirectional, or polymorphic ventricular tachycardia (VT). Arrhythmias are often triggered by exercise, acute emotion, or stress and most patients with CPVT have structurally normal hearts and normal resting electrocardiograms (ECG) . In addition to VT, atrial arrhythmias such as atrial fibrillation (AF), atrial flutter, and atrial abnormalities such as sinus node dysfunction and atrial standstill have been reported .…”

“…Arrhythmias are often triggered by exercise, acute emotion, or stress and most patients with CPVT have structurally normal hearts and normal resting electrocardiograms (ECG) . In addition to VT, atrial arrhythmias such as atrial fibrillation (AF), atrial flutter, and atrial abnormalities such as sinus node dysfunction and atrial standstill have been reported . Mutations in the cardiac ryanodine receptor 2 gene ( RYR2 ), which is intimately involved in myocardial calcium homeostasis, are noted in approximately 55% of the patients .…”

“…In addition to VT, atrial arrhythmias such as atrial fibrillation (AF), atrial flutter, and atrial abnormalities such as sinus node dysfunction and atrial standstill have been reported . Mutations in the cardiac ryanodine receptor 2 gene ( RYR2 ), which is intimately involved in myocardial calcium homeostasis, are noted in approximately 55% of the patients . These mutations are inherited in an autosomal dominant fashion; however, approximately half of the RYR2 mutations have been shown to arise de novo .…”

“…Mutations in the cardiac ryanodine receptor 2 gene ( RYR2 ), which is intimately involved in myocardial calcium homeostasis, are noted in approximately 55% of the patients . These mutations are inherited in an autosomal dominant fashion; however, approximately half of the RYR2 mutations have been shown to arise de novo . Once diagnosed, treatment of CPVT includes avoidance of strenuous exercise and competitive sports, ß‐blockers, flecainide, implantable cardioverter‐defibrillator (ICD), and, occasionally, cervical sympathectomy .…”