Nemaline Myopathy With Dilated Cardiomyopathy in Childhood abstract

We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient’s cardiac failure developed during early childhood with no delay of gross motor milestones. The use of a b-blocker did not improve his clinical course, and the patient died 6 months after diagnosis of dilated cardiomyopathy. Congenital nonprogressive nemaline myopathy is not necessarily a benign disorder: deterioration can occur early in the course of dilated cardiomyopathy with neuromuscular disease, and careful clinical evaluation is therefore necessary. Pediatrics 2013;131:e1–e5 AUTHORS: Ryohei Gatayama, MD,ab Kentaro Ueno, MD,a Hideaki Nakamura, MD,a Sadamitsu Yanagi, MD,a Hideaki Ueda, MD,a Hiroyuki Yamagishi, MD,c and Seiyo Yasui, MDa aDepartment of Cardiology, Kanagawa Children’s Medical Center, Kanagawa, Japan; bDepartment of Pediatrics, Hiratsuka City Hospital, Kanagawa, Japan; and cDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan