Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation
We aim to describe a unique case of a desmoplakin gene mutation with refractory ventricular arrhythmia and cardiomyopathy. We describe a 29-year-old man hospitalized for chest pain and cardiomyopathy, who subsequently developed ventricular arrhythmia that was refractory to multiple antiarrhythmic ag...
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Open Exploration Publishing Inc.
2025-07-01
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| Series: | Exploration of Cardiology |
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| Online Access: | https://www.explorationpub.com/uploads/Article/A101265/101265.pdf |
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| author | Jas Virk David Notman Vinay Thohan |
| author_facet | Jas Virk David Notman Vinay Thohan |
| author_sort | Jas Virk |
| collection | DOAJ |
| description | We aim to describe a unique case of a desmoplakin gene mutation with refractory ventricular arrhythmia and cardiomyopathy. We describe a 29-year-old man hospitalized for chest pain and cardiomyopathy, who subsequently developed ventricular arrhythmia that was refractory to multiple antiarrhythmic agents, ablation, immunotherapy, and sympathectomy. Diagnostic studies included coronary catheterization, cardiac MRI, and endomyocardial biopsy. He underwent placement of an Impella 5.5 temporary mechanical support device for multi-organ failure; eventually requiring a Heartmate 3 left ventricular assist device. This report details how cardiac MRI, endomyocardial biopsy, and genetic testing are crucial diagnostic modalities when assessing patients with refractory arrhythmias or myocarditis. Pathogenic variants in the desmoplakin gene can be associated with significant morbidity in patients and require multidisciplinary care from cardiology, electrophysiology, advanced heart failure, and cardiac surgery. Arrhythmogenic cardiomyopathies should be considered for patients suffering repeated episodes of myocarditis or refractory ventricular arrhythmias. We utilized various criteria of functional, electrocardiographic, arrhythmic, tissue characterization, and genetic findings to establish the diagnosis of arrhythmogenic cardiomyopathy, which will be discussed later in this paper. |
| format | Article |
| id | doaj-art-89846a562598422183acdc49fdb1004d |
| institution | DOAJ |
| issn | 2994-5526 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Open Exploration Publishing Inc. |
| record_format | Article |
| series | Exploration of Cardiology |
| spelling | doaj-art-89846a562598422183acdc49fdb1004d2025-08-20T02:48:19ZengOpen Exploration Publishing Inc.Exploration of Cardiology2994-55262025-07-01310126510.37349/ec.2025.101265Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutationJas Virk0https://orcid.org/0000-0001-9938-6991David Notman1Vinay Thohan2Department of Internal Medicine, Mission Hospital, Asheville, NC 28801, USADepartment of Internal Medicine, Mission Hospital, Asheville, NC 28801, USADepartment of Internal Medicine, Mission Hospital, Asheville, NC 28801, USAWe aim to describe a unique case of a desmoplakin gene mutation with refractory ventricular arrhythmia and cardiomyopathy. We describe a 29-year-old man hospitalized for chest pain and cardiomyopathy, who subsequently developed ventricular arrhythmia that was refractory to multiple antiarrhythmic agents, ablation, immunotherapy, and sympathectomy. Diagnostic studies included coronary catheterization, cardiac MRI, and endomyocardial biopsy. He underwent placement of an Impella 5.5 temporary mechanical support device for multi-organ failure; eventually requiring a Heartmate 3 left ventricular assist device. This report details how cardiac MRI, endomyocardial biopsy, and genetic testing are crucial diagnostic modalities when assessing patients with refractory arrhythmias or myocarditis. Pathogenic variants in the desmoplakin gene can be associated with significant morbidity in patients and require multidisciplinary care from cardiology, electrophysiology, advanced heart failure, and cardiac surgery. Arrhythmogenic cardiomyopathies should be considered for patients suffering repeated episodes of myocarditis or refractory ventricular arrhythmias. We utilized various criteria of functional, electrocardiographic, arrhythmic, tissue characterization, and genetic findings to establish the diagnosis of arrhythmogenic cardiomyopathy, which will be discussed later in this paper.https://www.explorationpub.com/uploads/Article/A101265/101265.pdfdesmoplakin (dsp)desmoplakin cardiomyopathyarrhythmiacase report |
| spellingShingle | Jas Virk David Notman Vinay Thohan Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation Exploration of Cardiology desmoplakin (dsp) desmoplakin cardiomyopathy arrhythmia case report |
| title | Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation |
| title_full | Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation |
| title_fullStr | Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation |
| title_full_unstemmed | Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation |
| title_short | Genetic insights into non-ischemic arrhythmogenic cardiomyopathy: a case report of desmoplakin mutation |
| title_sort | genetic insights into non ischemic arrhythmogenic cardiomyopathy a case report of desmoplakin mutation |
| topic | desmoplakin (dsp) desmoplakin cardiomyopathy arrhythmia case report |
| url | https://www.explorationpub.com/uploads/Article/A101265/101265.pdf |
| work_keys_str_mv | AT jasvirk geneticinsightsintononischemicarrhythmogeniccardiomyopathyacasereportofdesmoplakinmutation AT davidnotman geneticinsightsintononischemicarrhythmogeniccardiomyopathyacasereportofdesmoplakinmutation AT vinaythohan geneticinsightsintononischemicarrhythmogeniccardiomyopathyacasereportofdesmoplakinmutation |