| Autor: |
Soban Ahmad, Husam El Sharu, Robin Fernandes, Mark Kolasa, Constantin Bogdan Marcu |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Clinical Case Reports, Vol 12, Iss 6, Pp n/a-n/a (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2050-0904 |
| DOI: |
10.1002/ccr3.9003 |
| Popis: |
Key Clinical Message In contrast to previously thought, arrhythmogenic cardiomyopathy can occur exclusively in the left ventricle in association with autosomal dominant mutation, even without any skin manifestations. Abstract We present a case of a 43‐year‐old male with left ventricle (LV)‐predominant arrhythmogenic cardiomyopathy (ACM) caused by a novel p.Q1830 mutation in the desmoplakin (DSP) gene. The patient had a significant family history of sudden cardiac death (SCD) and presented with presyncope and exertional dyspnea. The patient's electrocardiography (ECG) showed frequent premature ventricular complexes (PVCs) with bigeminy and couplet patterns. Cardiac magnetic resonance imaging (CMR) revealed late gadolinium enhancement of the left ventricle (LV) and ventricular systolic dysfunction, suggesting LV‐predominant arrhythmogenic cardiomyopathy. The patient was started on guideline‐directed medical therapy (GDMT), and an implantable cardioverter‐defibrillator (ICD) was implanted for primary prevention. The patient reported significant improvement in his heart failure symptoms at the 2‐year follow‐up. The article highlights the importance of timely diagnosis with multimodality imaging and genetic testing and management of the rare DSP‐related LV‐predominant ACM associated with a high risk of SCD. |
| Databáze: |
Directory of Open Access Journals |
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