Nemaline myopathy with dilated cardiomyopathy in childhood

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

研究成果: Article査読

22 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)e1986-e1990
ジャーナルPediatrics
131
6
DOI
出版ステータスPublished - 2013 6月

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康

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