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Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report
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 cardiomyopat...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793240/ https://www.ncbi.nlm.nih.gov/pubmed/33447728 http://dx.doi.org/10.1093/ehjcr/ytaa299 |
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author | Christina, Granitz Peter, Jirak Bernhard, Strohmer Gerhard, Pölzl |
author_facet | Christina, Granitz Peter, Jirak Bernhard, Strohmer Gerhard, Pölzl |
author_sort | Christina, Granitz |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7793240 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-77932402021-01-13 Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report Christina, Granitz Peter, Jirak Bernhard, Strohmer Gerhard, Pölzl Eur Heart J Case Rep Clinical Case Gallery Reports 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. Oxford University Press 2020-11-05 /pmc/articles/PMC7793240/ /pubmed/33447728 http://dx.doi.org/10.1093/ehjcr/ytaa299 Text en © The Author(s) 2020. Published by Oxford University Press on behalf of the European Society of Cardiology. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Clinical Case Gallery Reports Christina, Granitz Peter, Jirak Bernhard, Strohmer Gerhard, Pölzl Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
title | Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
title_full | Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
title_fullStr | Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
title_full_unstemmed | Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
title_short | Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
title_sort | catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report |
topic | Clinical Case Gallery Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793240/ https://www.ncbi.nlm.nih.gov/pubmed/33447728 http://dx.doi.org/10.1093/ehjcr/ytaa299 |
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