REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD: P.343 Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy

Abstract

Fukuyama congenital muscular dystrophy (FCMD) is the second common, childhood muscular dystrophy with brain anomaly in Japan. It is caused by insertions of a SINE-VNTR-Alu retrotransposal element into the fukutin gene. One of the main complications in patients with muscular dystrophies is cardiac dysfunction. The literature on cardiac involvement in patients with Fukuyama congenital muscular dystrophy (FCMD) is limited. To compare cardiac involvement between patients with FCMD and Duchenne muscular dystrophy (DMD), we compared cardiac involvement between 30 patients with FCMD and 181 patients with DMD using echocardiography and serum biomarkers.