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(5): 409-416 (2016)
doi:10.9794/jspccs.32.409

ReviewReview

Barth症候群Barth Syndrome

福島県立医科大学医学部小児科Department of Pediatrics, Fukushima Medical University ◇ Fukushima, Japan

発行日:2016年9月1日Published: September 1, 2016
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バース症候群はX連鎖性の疾患であり,心筋症,好中球減少,ミオパチー,成長障害,3-メチルグルタコンサン尿症を特徴とする.本疾患はXq28に存在するTAZ遺伝子の変異によって発症し,カルジオリピンの欠損とミトコンドリア機能異常をきたす.心筋疾患は,Barth症候群において最も多く認められる症状であり,拡張型心筋症と左室心筋緻密化障害が見られ,頻度は少ないが心内膜線維弾性症や肥大型心筋症が見られる.好中球減少やミオパチーなどの症状がなく,TAZ遺伝子異常が認められるX連鎖性の乳児心筋症が報告されており,これらはBarth症候群とallelicであると考えられている.本症候群による死亡の大半は心不全によるものであり,その多くは生後6か月以内に生じる.一方,治療に対する反応は良好であり,3歳以降は心機能が正常化する症例が多く見られる.不整脈が年長児で見られることがあるが,心機能が改善した5歳以降の予後は良好であることから,本症候群の表現型の多様性を理解し,早期診断と早期治療が重要である.

Barth syndrome is an X-linked disorder characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth delay, and increased urinary excretion of 3-methylglutaconic acid. The disorder is caused by mutations in the TAZ gene at Xq28 that result in cardiolipin deficiency and abnormal mitochondria. Cardiac involvement is the most common feature of this syndrome, which usually includes dilated cardiomyopathy or left ventricular noncompaction, and less commonly includes endocardial fibroelastosis or hypertrophic cardiomyopathy. X-linked infantile cardiomyopathies with mutations in the TAZ gene but without Barth syndrome-related symptoms, such as neutropenia and skeletal myopathy, have been reported and postulated to be allelic variants of Barth syndrome. Heart failure is a leading cause of death in such patients, with the highest incidence during the first 6 months of life. In contrast, many patients appear to respond to conventional medical therapy, and cardiac function usually normalizes after 3 years of age. Although Barth syndrome is associated with an increased risk of ventricular arrhythmia, the prognosis of most patients is good after 5 years of age when cardiac function subsequently recovers during infancy. Therefore, early diagnosis and management, with recognition of a wide range of phenotypes, are important for improving the prognosis of Barth syndrome.

Key words:  barth syndrome; mutation; cardiomyopathy; neutropenia; myopathy

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This page was last modified on 2016-09-28T20:09:59.72+09:00


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