Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report

Granitz Christina; Jirak Peter; Strohmer Bernhard; Pölzl Gerhard

doi:10.1093/ehjcr/ytaa299

Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report

Eur Heart J Case Rep. 2020 Nov 5;4(6):1-6. doi: 10.1093/ehjcr/ytaa299. eCollection 2020 Dec.

Authors

Granitz Christina¹, Jirak Peter¹, Strohmer Bernhard¹, Pölzl Gerhard²

Affiliations

¹ Clinic of Internal Medicine II, Department of Cardiology, Paracelsus Medical University of Salzburg, Müllner Hauptstrasse 48, 5020 Salzburg, Austria.
² Clinic of Internal Medicine III, Department of Cardiology and Angiology, University Hospital Innsbruck, Anichstraße 35, 6020 Innsbruck, Austria.

Abstract

Background: 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.

Case summary: 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.

Discussion: 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.

Keywords: CPVT; Case report; Dilated cardiomyopathy; Heart failure.