LV-predominant arrhythmogenic cardiomyopathy related to pathogenic DSP-variant.
Soban AhmadHusam El SharuRobin FernandesMark KolasaConstantin B MarcuPublished in: Clinical case reports (2024)
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.
Keyphrases
- heart failure
- left ventricular
- magnetic resonance imaging
- case report
- patient reported
- mitral valve
- blood pressure
- pulmonary artery
- pulmonary hypertension
- cardiac resynchronization therapy
- high resolution
- healthcare
- oxidative stress
- stem cells
- atrial fibrillation
- magnetic resonance
- computed tomography
- gene expression
- contrast enhanced
- pulmonary arterial hypertension
- physical activity
- dna methylation
- copy number
- palliative care
- heat stress
- transcription factor