Nemaline myopathy with dilated cardiomyopathy in childhood

Ryohei Gatayama, Kentaro Ueno, Hideaki Nakamura, Sadamitsu Yanagi, Hideaki Ueda, Hiroyuki Yamagishi, Seiyo Yasui

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)e1986-e1990
Issue number6
Publication statusPublished - 2013 Jun
Externally publishedYes


  • ACTA1
  • Childhood onset
  • Dilated cardiomyopathy
  • Nemaline myopathy
  • Neuromuscular diseases
  • School-aged child

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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