title: 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 β-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.
authors: Department of Cardiology, Kanagawa Children's Medical Center, Kanagawa, Kanagawa, Japan. gatayamar@hotmail.com
authors: Ryohei
authors: R
authors: Gatayama
authors: Kentaro
authors: K
authors: Ueno
authors: Hideaki
authors: H
authors: Nakamura
authors: Sadamitsu
authors: S
authors: Yanagi
authors: Hideaki
authors: H
authors: Ueda
authors: Hiroyuki
authors: H
authors: Yamagishi
authors: Seiyo
authors: S
authors: Yasui
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D006333:Heart Failure / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008297:Male; D017696:Myopathies, Nemaline / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D011379:Prognosis
keywords: ACTA1; childhood onset; dilated cardiomyopathy; nemaline myopathy; neuromuscular diseases; school-aged child