MRI Findings in Desmoplakin-related Arrhythmogenic Left Ventricular Cardiomyopathy in a Pediatric Patient: A Case Report

Untitled

“…Junctional plakoglobin (JUP) appeared similar between DSP +/+ and DSP -/-EHTs; colocalization studies of JUP with DSP protein highlighted the differences in the intercalated disc-like structures between DSP -/and DSP +/+ EHTs In DSP gene mutation carriers, cardiac inflammation is detected using cardiac imaging, specifically 18F-fluorodeoxyglucose positron emission tomography (9), and this inflammatory signature has been referred to as a "sterile" myocarditis-like process. Similar cardiac inflammation can be visualized in myocarditis patients with DSP gene mutations (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22). In patients, the DSP mutations are present throughout their lifetimes, suggesting additional stressors contribute to manifesting myocarditis episodes, which histopathologically are characterized by myocardial necrosis and immune cell, typically lymphocytic, infiltrate.…”