Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.

摘要: Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy contractures of the neck, elbows ankles. The causative mutation is either in emerin gene (X-linked recessive EDMD) or lamin A/C (autosomal dominant EDMD2 LGMD1B). We report three cases EDMD, LGMD1B. A 14-yr-old boy showed limitation cervical flexion both Sinus arrest with junctional escape beats was noted. He diagnosed as X-linked EDMD (MIM 310300). 28-yr-old female severe wasting weakness humeroperoneal muscles. Marked ankles were Varying degrees AV block She autosomal 181350). 41-yr-old had dystrophy. ECG revealed atrial tachycardia high grade block. LGMD1B 159001). Cardiac dysrhythmias include block, bradycardia, tachycardia, fibrillation, standstill, causing sudden death necessitating pacemaker implantation. Cardiologists should know about these unusual genetic diseases conduction defects, especially young adults.