LV‐predominant arrhythmogenic cardiomyopathy related to pathogenic DSP‐variant

• Published in: Clinical case reports Vol. 12; no. 6; pp. e9003 - n/a
• Main Authors: Ahmad, Soban, El Sharu, Husam, Fernandes, Robin, Kolasa, Mark, Bogdan Marcu, Constantin
• Format: Journal Article
• Language: English
• Published: England John Wiley & Sons, Inc 01.06.2024; Wiley
• Subjects: arrhythmia; Asymptomatic; Cardiac arrest; Cardiac arrhythmia; cardiac magnetic resonance imaging (CMR); Cardiomyopathy; Case reports; Electrocardiography; Genes; Genetic counseling; Genetic disorders; Genetic testing; genetics; Heart failure; Magnetic resonance imaging; Mutation; Patients; Proteins; genetics; cardiac magnetic resonance imaging (CMR); cardiomyopathy; arrhythmia
• ISSN: 2050-0904; 2050-0904
• DOI: 10.1002/ccr3.9003

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. 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. Cardiac MRI Half‐Fourier single‐shot turbo spin‐echo (HASTE) axial sequence showing increased signal intensity along the right ventricular free wall (red arrow), interventricular septum (white arrow), and epicardial lateral left ventricular wall (blue arrow). Figure B: Cardiac MRI 4 chamber balanced steady‐state free precession (bSSFP) scout showing chemical artifact on right ventricular free wall (white arrow), interventricular septum (blue arrow), and epicardial lateral left ventricular wall (red arrow).