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
Pediatric Cardiology and Cardiac Surgery 32(3): 237-243 (2016)

症例報告Case Report

心臓再同期療法を施行したLMNA変異を伴う先天性筋ジストロフィーの1例Successful Cardiac Resynchronization Therapy in a Case of LMNA-associated Congenital Muscular Dystrophy

1富山県立中央病院小児科Department of Pediatrics, Toyama Prefectural Central Hospital ◇ Toyama, Japan

2富山県立中央病院内科(循環器)Department of Internal medicine, Toyama Prefectural Central Hospital ◇ Toyama, Japan

3富山大学医学部小児科Department of Pediatrics, Toyama University ◇ Toyama, Japan

受付日:2015年9月29日Received: September 29, 2015
受理日:2016年3月31日Accepted: March 31, 2016
発行日:2016年5月1日Published: May 1, 2016

LMNA遺伝子は,核膜の裏打ち蛋白であるLamin A/Cをコードし,心筋・骨格筋・末梢神経の障害,皮膚疾患など多彩な疾患の発症に関与する.LMNA変異には,拡張型心筋症や伝導障害,心室性不整脈の合併が多いとされ,これらの心不全・伝導障害に対して心臓再同期療法(Cardiac resyncronization therapy; CRT)の有用性の報告が散見される.本症例は乳幼児期発症の先天性筋ジストロフィーの女児で,遺伝子検査でLMNA変異を認めた.8歳以降,徐々に心機能が低下し,完全房室ブロックや非持続性心室頻拍を認め,13歳時より心房細動,徐脈および心不全が進行し,入退院を繰り返すようになった.14歳時に,伝導障害を伴う高度徐脈を合併した心不全に対して,経静脈的に両心室ペースメーカ植込み術を施行し,心不全症状の改善が得られた.LMNA関連心筋症は成人期以降に徐脈性不整脈・心不全や突然死を呈することが多く,成人例でのCRTの有用性が報告されているが,本症例のように小児期発症例においてもCRTの有用性が示唆される.

Lamin A/C gene (LMNA) mutations can cause a variety of clinical phenotypes, including skeletal muscle disease, metabolic disorders, and cardiac abnormalities. The cardiac phenotype associated with LMNA mutation is characterized by atrial fibrillation, conduction disturbances, ventricular arrhythmias, and dilated cardiomyopathy. Although the use of cardiac resynchronization therapy (CRT) is increasing for adult patients with LMNA-related cardiomyopathy, its use in pediatric patients has been limited. We present a case of congenital muscular dystrophy with LMNA mutation. The patient acquired ambulation at 16 months but gradually lost independent ambulation at 4 years of age. Cardiac involvement with reduced systolic function became apparent when she was 8 years old. Electrocardiography revealed complete atrioventricular block and nonsustained ventricular tachycardia. At the age of 13 years, severe bradycardia and atrial fibrillation were observed. The patient was repeatedly hospitalized because of congestive heart failure. As severe bradycardia caused heart failure, a biventricular pacemaker was implanted using a transvenous approach at 14 years of age. The CRT led to alleviation of the clinical symptoms. In summary, we present the outcome of CRT in a 14-year-old girl with LMNA-related cardiomyopathy. This case suggests that CRT initiation is a promising therapeutic strategy not just for adult patients with LMNA-related cardiomyopathy but also for pediatric patients.

Key words: dilated cardiomyopathy; laminopathy; congenital muscular dystrophy; cardiac resynchronization therapy; LMNA mutation

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