Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy

DES mutation associated with cardiac hypertrophy and alternating bundle branch block

“…Desmin is enriched in Purkinje cells, and desmin knockout mice showed slower conduction velocities, which may account for the high morbidity of cardiac conduction defect in mutation carriers. 10 , 11 Boulé and colleagues 12 demonstrated that in a desminopathy case with mutation (p.Ser13Phe) in the head domain of desmin, the Purkinje system was involved in the pathogenesis of ABBB and AVB. The desminopathy in our case resulted in a truncated protein, Del(Asp214-Glu245).…”