Christina Granitz, Peter Jirak, Bernhard Strohmer, Gerhard Pölzl
Clinic of Internal Medicine II, Department of Cardiology, Paracelsus Medical University of Salzburg, Müllner Hauptstrasse 48, 5020 Salzburg, Austria.
Clinic of Internal Medicine III, Department of Cardiology and Angiology, University Hospital Innsbruck, Anichstraße 35, 6020 Innsbruck, Austria.
Eur Heart J Case Rep. 2020 Nov 5;4(6):1-6. doi: 10.1093/ehjcr/ytaa299. eCollection 2020 Dec.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia manifesting as stress-induced syncope and sudden cardiac death. While CPVT is not associated with dilated cardiomyopathy (DCM) in most cases, the combination of both disease entities poses a major diagnostic and therapeutic challenge.
We present the case of a young woman with CPVT. The clinical course since childhood was characterized by repetitive episodes of exercise-induced ventricular arrhythmias and a brady-tachy syndrome due to rapid paroxysmal atrial fibrillation and sinus bradycardia. Medical treatment included propranolol and flecainide until echocardiography showed a dilated left ventricle with severely depressed ejection fraction when the patient was 32 years old. Cardiac magnetic resonance imaging revealed non-specific late gadolinium enhancement. Myocardial inflammation, however, was excluded by subsequent endomyocardial biopsy. Genetic analysis confirmed a mutation in the cardiac ryanodine receptor but no pathogenetic variant associated with DCM. Guideline-directed medical therapy for HFrEF was limited due to symptomatic hypotension. Over the next months, the patient developed progressive heart failure symptoms that were finally managed by heart transplantation.
Management in patients with CPVT and DCM is challenging, as Class I antiarrhythmic drugs are not recommended in structural heart disease and prophylactic internal cardioverter-defibrillator implantation without adjuvant antiarrhythmic therapy can be detrimental. Regular echocardiographic screening for DCM is recommendable in patients with CPVT. A multidisciplinary team of heart failure specialists, electrophysiologists, geneticists, and imaging specialists is needed to collaborate in the delivery of clinical care.
儿茶酚胺能多形性室性心动过速（CPVT）是一种严重的遗传性致心律失常疾病，其特征为肾上腺素能诱导的室性心动过速，表现为应激性晕厥和心源性猝死。虽然大多数情况下CPVT与扩张型心肌病（DCM）无关，但这两种疾病实体的合并给诊断和治疗带来了重大挑战。
我们报告了一例患有CPVT的年轻女性病例。自童年起，其临床病程的特点是反复出现运动诱发的室性心律失常以及因快速阵发性房颤和窦性心动过缓导致的快慢综合征。药物治疗包括普萘洛尔和氟卡尼，直到患者32岁时超声心动图显示左心室扩张且射血分数严重降低。心脏磁共振成像显示非特异性钆延迟强化。然而，随后的心内膜活检排除了心肌炎症。基因分析证实心脏兰尼碱受体存在突变，但未发现与DCM相关的致病变异。由于症状性低血压，针对射血分数降低的心力衰竭（HFrEF）的指南指导药物治疗受到限制。在接下来的几个月里，患者出现了进行性心力衰竭症状，最终通过心脏移植得以控制。
CPVT和DCM患者的管理具有挑战性，因为I类抗心律失常药物在结构性心脏病中不被推荐，且在没有辅助抗心律失常治疗的情况下预防性植入体内除颤器可能有害。建议对CPVT患者定期进行超声心动图筛查DCM。需要心力衰竭专家、电生理学家、遗传学家和影像专家组成的多学科团队协作提供临床护理。
