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(1): 56-61 (2016)


乳児期に診断し長期経過観察しているUhl病の一例A Long-term Follow-up Case of Uhl’s Anomaly that was Diagnosed in Infancy

1埼玉県立小児医療センター循環器科Division of Cardiology, Saitama Children’s Medical Center ◇ Saitama, Japan

2東京慈恵会医科大学小児科学講座Department of Pediatrics, The Jikei University School of Medicine ◇ Tokyo, Japan

受付日:2015年9月24日Received: September 24, 2015
受理日:2015年12月10日Accepted: December 10, 2015
発行日:2016年1月1日Published: January 1, 2016

Uhl病は右室心筋の部分的あるいは完全な欠如によって,羊皮紙様の菲薄化を伴う著明に拡張した右室を特徴とする原因不明の疾患である.Uhl病の多くは乳幼児期に発症し,そのほとんどは成人期に達することはないとされている.今回,乳児期にUhl病と診断し,無症状で18年間長期経過観察している一例を報告する.2ヶ月時の心臓超音波検査でUhl病と診断し,6歳時に施行した心血管造影検査にて著明に拡大した右室を認めた.12歳時に施行したMRIでは右室自由壁は菲薄化し,右室拡大は増悪していた.15歳時のMRIでは右室拡大はさらに増悪し,経時的に右室は拡大傾向を示していたが,右心不全症状を呈することなく(NYHA I),良好な経過を示している.Uhl病の自然歴を把握するうえで重要な一例と思われる.

Uhl’s anomaly is a rare cardiac disease of unknown etiology characterized by a markedly distended right ventricle because of partial or complete absence of right ventricular myocardium, which consequently develops a parchment-like appearance. Patients usually present with symptoms in infancy and rarely survive to adulthood. We report the case of an 18-year-old patient with Uhl’s anomaly who was diagnosed in infancy and survived to adulthood without symptoms of heart failure. Angiocardiography at the age of 6-years showed a dilated right ventricle. Magnetic resonance imaging (MRI) at the age of 12-years showed an extremely dilated thin-walled right ventricle with almost complete absence of right ventricular myocardium. At the age of 15-years, his MRI images showed further dilatation of the right ventricle. Follow-up examinations revealed to manifestation of right heart failure, despite persistent right ventricular dilatation and impaired function. This case may be useful for understanding the natural history of Uhl’s anomaly.

Key words: Uhl’s anomaly; natural history; magnetic resonance imaging

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