ArticleClinical case reports2024
LV-predominant arrhythmogenic cardiomyopathy related to pathogenic DSP-variant.
Article in Clinical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Novel therapeutic cav1.3-C-terminus normalizes L-type calcium current and ejection fraction in ischemia-induced murine heart failure.Biochemical and biophysical research communications · 2025Article
- LV-predominant arrhythmogenic cardiomyopathy related to pathogenic DSP-variant.Clinical case reports · 2024Article
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5 authors.
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Abstract
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.
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