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 35(2): 127-131 (2019)
doi:10.9794/jspccs.35.127

症例報告Case Report

左単一冠動脈の拡張を伴い,SHOC2遺伝子異常が認められたNoonan症候群の1例A Case of Noonan Syndrome with the SHOC2 Mutation Complicated by Dilation of a Single Left Coronary Artery

1筑波大学医学医療系小児科Department of Child Health, Faculty of Medicine, University of Tsukuba ◇ Ibaraki, Japan

2茨城県立こども病院小児循環器科Department of Cardiovascular Surgery, Faculty of Medicine, University of Tsukuba ◇ Ibaraki, Japan

3筑波大学医学医療系心臓血管外科Department of Pediatric Cardiology, Ibaraki Children’s Hospital ◇ Ibaraki, Japan

4筑波大学生存ダイナミクス研究センターLife Science Center for Survival Dynamics, Tsukuba Advanced Research Alliance, University of Tsukuba ◇ Ibaraki, Japan

受付日:2018年10月31日Received: October 31, 2018
受理日:2019年1月15日Accepted: January 15, 2019
発行日:2019年5月1日Published: May 1, 2019
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Noonan症候群はRAS/MAPK経路の遺伝子異常が原因となって発症する常染色体優性遺伝疾患で,臨床的には特徴的顔貌,低身長,先天性心疾患などを呈する.合併する心疾患としては肺動脈弁狭窄,心房中隔欠損症,肥大型心筋症がよく知られているが,稀な合併症として冠動脈拡張が報告されている.症例は新生児期に心室中隔欠損症と診断された.大動脈弁無冠尖・右冠尖逸脱に伴う大動脈弁逆流が進行し,4歳で心室中隔欠損症閉鎖術が行われた.11歳の心臓カテーテル検査で左単一冠動脈とその拡張が認められた.表現型からNoonan症候群が疑われ,16歳で行われた遺伝子検査で,SHOC2遺伝子変異が検出された.冠動脈拡張を伴うNoonan症候群は過去14例報告されているが,同変異を有するNoonan症候群で冠動脈拡張を合併した症例の報告は過去にない.冠動脈拡張を伴うNoonan症候群の報告例をまとめ,その臨床像について考察した.

Noonan syndrome (NS) is an autosomal dominant disorder characterized by facial dysmorphism, short stature, and congenital heart defects. NS is caused by dysregulation of the RAS-MAPK pathway, and multiple gene mutations of this pathway have been identified. Common cardiovascular disorders in NS include pulmonary valve stenosis, atrial septal defect, and hypertrophic cardiomyopathy. Coronary artery abnormalities have also been reported as rare vascular complications. We present the case of a male patient with NS with the SHOC2 mutation. The patient developed progressive dilation of the left coronary artery as well as a ventricular septal defect (VSD) and right ventricular outflow tract stenosis. VSD patch closure was performed at the age of 4 due to progressive aortic regurgitation from prolapse of the non-coronary aortic cusp. Coronary artery dilation was first detected at the age of 11. Gene analysis conducted at the age of 16 identified the SHOC2 mutation. Although 14 cases of NS with coronary artery dilation have been previously reported, this is the first report of NS with the SHOC2 mutation complicated by such a rare coronary arterial abnormality. The clinical characteristics and genetic backgrounds of those cases as well as the mechanism of coronary dilation are discussed.

Key words: Noonan syndrome; RAS/MAPK pathway; SHOC2 gene; coronary artery dilation; single left coronary artery

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This page was last modified on 2019-05-17T16:09:52.000+09:00


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