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 35(3): 179-185 (2019)

症例報告Case Report

18q-症候群に対する大動脈弁置換術の一例Aortic Valve Replacement for a Patient with 18q Syndrome

1東北大学大学院医学系研究科外科病態学講座心臓血管外科学分野Division of Cardiovascular Surgery, Tohoku University Graduate School of Medicine ◇ Miyagi, Japan

2東北大学大学院医学系研究科発生・発達医学講座小児病態学分野Department of Pediatrics, Tohoku University Graduate School of Medicine ◇ Miyagi, Japan

受付日:2018年12月19日Received: December 19, 2018
受理日:2019年3月5日Accepted: March 5, 2019
発行日:2019年9月1日Published: September 1, 2019

症例は19歳男性で,出生時より筋力の軽度低下,難聴,口唇口蓋裂,軽度発達遅延等を認めていたが,染色体検査は行っていなかった.16歳時に心雑音を指摘され,大動脈弁閉鎖不全症の診断となり,その際に行われた染色体検査(G-band解析)にて,18番染色体部分トリソミーおよび部分モノソミーの診断[46, XY, add(18)(q21.2)]となった.包括的な医療を希望し当院へ紹介となり,大動脈弁閉鎖不全症に対し大動脈弁置換術(機械弁)を行った.病理所見では,大動脈弁は3尖とも線維性に肥厚しており,弁尖が結節状に変化していた.また,Alcian-blue陽性の粘液状基質の沈着が目立ち,中等度の変性を伴う大動脈弁の組織像であった.大動脈壁も同様に中等度以上の変性を伴う大動脈壁の組織像であった.外来経過中に行ったアレイCGH+SNP解析では,18番染色体長腕にコピー数の変化を認め,最終的には18番染色体長腕部分モノソミー(18q-症候群)の診断となった.青年期に達し心臓手術が施行された18部分モノソミーの報告はなく,若干の考察を加え報告する.

A 19-year-old male presented with a history of mild muscle weakness, hypoacusis, cleft lip plate, and delayed development since birth. However, a chromosomal analysis had been refrained. At the age of 16 years, a heart murmur was identified for the first time during a school checkup, and aortic valve regurgitation was identified by echocardiography. At that time, he was diagnosed with partial trisomy and monosomy 18 based on G-banding analysis and was then referred to our hospital for comprehensive management of the chromosomal disease and aortic valve insufficiency. The regurgitation gradually progressed, and we performed aortic valve replacement with a mechanical valve. The postoperative course was uneventful, and pathological examination revealed that each leaflet of the aortic valve was thickened and hyalinized mainly around the Arantius body. Alcian blue and periodic acid-Schiff staining also confirmed the myxomatous change around the aortic valve and wall. Hematoxylin–eosin staining confirmed the lengthening, disruption, and effacement of the collagen fiber in aortic media. However, we found no significant macroscopic findings on the aortic wall. Single nucleotide polymorphism and comparative genomic hybridization microarray analysis revealed a deletion only at the long arm of chromosome 18, and the patient was diagnosed with 18q-syndrome. We report the first case of partial monosomy 18 during adolescence requiring cardiovascular surgery and discuss the cardiovascular features of this chromosomal abnormality.

Key words: chromosomal abnormality; 18q-syndrome; aortic-valve replacement

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