日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
〒162-0801東京都新宿区山吹町358-5アカデミーセンター Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Pediatric Cardiology and Cardiac Surgery 32(2): 181-186 (2016)
doi:10.9794/jspccs.32.181

症例報告Case Report

ACTA1変異を伴うネマリンミオパチーに合併した肥大型心筋症の1例Hypertrophic Cardiomyopathy Associated with Nemaline Myopathy Due to ACTA1 Mutation

1東京都立小児総合医療センター循環器科Department of Cardiology, Tokyo Metropolitan Children’s Medical Center ◇ Tokyo, Japan

2東京都立小児総合医療センター神経内科Department of Neurology, Tokyo Metropolitan Children’s Medical Center ◇ Tokyo, Japan

3国立精神・神経医療研究センター神経研究所疾病研究第一部Department of Neuromuscular Research, National Center of Neurology and Psychiatry ◇ Tokyo, Japan

4東京医科大学病態生理学分野Department of Pathophysiology, Tokyo Medical University ◇ Tokyo, Japan

受付日:2015年10月31日Received: October 31, 2015
受理日:2015年12月24日Accepted: December 24, 2015
発行日:2016年3月1日Published: March 1, 2016
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先天性ミオパチーの一つであるネマリンミオパチーには,従来心筋症の合併は少ないとされてきた.今回われわれは,ACTA1遺伝子変異を伴うネマリンミオパチーに,非典型的な肥大型心筋症を合併した症例を経験した.1歳6か月時に歩容異常,2歳時に筋力低下および筋萎縮,7歳時に肥大型心筋症を指摘され,8歳時に筋生検で病理組織所見からネマリンミオパチーと診断し,ACTA1遺伝子の変異が同定された.心臓超音波検査および心臓カテーテル検査で心基部と心尖部の中間付近の壁が同心円状に肥大し,著明な拡張障害を伴う特徴的所見を示していた.β遮断薬を導入したところ心不全症状が増悪し,その治療中に心室細動を発症,9歳5か月で永眠した.これらの特徴は,心筋での細いフィラメントの遺伝子変異を伴う肥大型心筋症の特徴として報告されている所見に合致する.心臓合併症は稀とされるネマリンミオパチーにおいても,心筋症で致死的となる症例があり,慎重な心機能の評価および適切な治療が必要である.

Nemaline myopathy, a common type of congenital myopathy, rarely presents with cardiac involvement. We report a female patient with atypical hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 mutation. She presented with an abnormal gait at the age of 18 months. Slowly progressive muscle hypotonia and weakness were recognized at the age of 2 years. A cardiovascular assessment performed at the age of 7 years showed atypical hypertrophic cardiomyopathy. The diagnosis of nemaline myopathy was confirmed by a skeletal muscle biopsy, and an ACTA1 mutation was identified at the age of 8 years. Echocardiography and cardiac catheterization revealed severe diastolic dysfunction and atypical concentric left ventricular hypertrophy between the base and the apex of the heart. A β-blocker was administered without effect, and the patient died of ventricular fibrillation accompanied by heart failure at the age of 9 years. Some of the clinical features of this case resembled the recently reported hypertrophic cardiomyopathy associated with thin-filament gene mutations. Nemaline myopathy may result in fatal cardiomyopathy; therefore, careful assessment and appropriate management for cardiovascular involvement are essential.

Key words: hypertrophic cardiomyopathy; nemaline myopathy; α-actin; ACTA1 gene

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