Abstract
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder causing life-threatening arrhythmias. Long-term outcome studies of the channelopathy are limited. Objective: The aim of the present study was to summarize our knowledge on CPVT patients, including the clinical profile treatment approach and long-term outcome. Methods: In this single center study, we retrospectively and prospectively collected data from nine CPVT patients and analyzed them. Results: We reviewed nine patients with CPVT in seven families (22% male), with a median follow-up time of 8.6 years. Mean age at diagnosis was 26.4 ± 12 years. Symptoms at admission were syncope (four patients) and aborted cardiac arrest (four patients). Family history of sudden cardiac death was screened in five patients. In genetic analyses, we found five patients with ryanodine type 2 receptor (RYR2) mutations. Seven patients were treated with beta-blockers, and if symptoms persisted flecainide was added (four patients). Despite beta-blocker treatment, three patients suffered from seven adverse cardiac events. An implantable cardioverter defibrillator was implanted in seven patients (one primary, six secondary prevention). Over the follow-up period, three patients suffered from ventricular tachycardia (ten times) and five patients from ventricular fibrillation (nine times). No one died during follow-up. Conclusion: Our CPVT cohort showed a high risk of cardiac events. Family screening, optimal medical therapy and individualized treatment are necessary in affected patients in referral centers.
Highlights
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by ventricular arrhythmias (VAs) induced by physical or emotional stress without any detectable structural abnormalities of the heart muscle [1,2]
One patient was diagnosed with CPVT 10 months after the onset of symptoms; all others had more than a one-year delay in diagnosis
We have described the clinical profile and short- and long-term risk of cardiac events in seven CPVT families and found the following: (i) the risk of cardiac events in CPVT families is high; (ii) implantable cardioverter defibrillator (ICD) implantation is recommended in high-risk patients; (iii) family screening is essential to detect all CPVT patients; (iv) the outcome is improved by taking appropriate risk assessment, individualized treatment options and if the patient is seen at a reference center
Summary
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disorder characterized by ventricular arrhythmias (VAs) induced by physical or emotional stress without any detectable structural abnormalities of the heart muscle [1,2]. This rare channelopathy manifests especially in childhood and adolescence, with symptoms such as syncope and/or sudden cardiac arrest. Beta-blockers can be an effective medical treatment. We report the clinical characteristics, genetic profile, treatment and long-term follow-up of a CPVT cohort, including family members. Despite beta-blocker treatment, three patients suffered from seven adverse cardiac events. Optimal medical therapy and individualized treatment are necessary in affected patients in referral centers
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