De novo mutation in desmin gene causing dilated cardiomyopathy requiring ECMO treatment: A clinical report

By anchoring different cell structures like Z-bands, mitochondria, and desmosomes to the cytoskeleton, desmin filaments are essential for cellular integrity, signal transduction and mitochondrial function. The spectrum of clinical phenotypes associated with DES gene mutations is wide and heterogeneous. The most common clinical presentations of desminopathy include cardiomyopathy, cardiac conduction disease, and progressive skeletal myopathy. We present a case of an 11-year-old girl with progressive dilated cardiomyopathy (DCM) needing ECMO treatment. ECMO treatment was complicated by the early development of intracardiac thrombi and lung necrosis. Post-mortem exome sequencing revealed the causative, previously unreported, de novo mutation of DES gene, c.365 A > C, p.Tyr122Ser, characterized with unusually progressive clinical course leading to death.