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 36(1): 3-15 (2020)
doi:10.9794/jspccs.36.3

ReviewReview

18トリソミーおよび13トリソミー児の心臓血管手術Cardiovascular Surgery for Trisomy 18 and Trisomy 13

自治医科大学とちぎ子ども医療センター小児手術・集中治療部Pediatric Operating Suite and Intensive Care Unit, Jichi Children’s Medical Center Tochigi ◇ Tochigi, Japan

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現 広島市立広島市民病院 小児科/循環器小児科Current affiliation: Department of Pediatrics/Pediatric Cardiology, Hiroshima City Hiroshima Citizens Hospital, Hiroshima, Japan

発行日:2020年3月1日Published: March 1, 2020
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18トリソミーおよび13トリソミーは頻度の高い常染色体異常症候群であり,重度の精神運動発達遅滞,先天性心疾患など多彩な合併症を呈する.生命予後不良として,従来は積極的な治療が行われてこなかった.近年,積極的な治療により生命予後が改善するとの報告が増加し,5年,10年の長期生存率を報告するpopulation-based studyもみられるようになった.合併する心疾患では,肺血管閉塞性病変が早期に進行する症例があるなどの特徴が徐々に解明されている.心臓血管手術では適切な手術時期や手術法,他臓器合併症など検討すべき課題が多く,長期的な生命予後を改善するかは未だ不明で,施設間で対応の相違がみられる.手術の目的として生存期間の延長のみならず,患児と家族のquality of life (QOL)向上も重要である.蓄積されてきたエビデンスに基づき患者家族に精確な情報を提供し,十分な話し合いを通じて「児の最善の利益」と家族の意思を尊重しつつ,症例ごとに最もよい治療を模索する必要がある.

Trisomy 18 (T18) and trisomy 13 (T13) are among the most prevalent autosomal aneuploidies causing severe delay of psychomotor development, congenital heart defects, and other multiple congenital anomalies. Aggressive therapies for patients with either trisomies are not recommended because these diseases are associated with a very high risk of mortality. Recently, some investigators have reported that intensive medical management can extend the life-span of patients with T18 or T13, and some population-based studies have demonstrated a longer survival rate by 5 to 10 years. The characteristics of congenital heart defects in patients with T18 or T13, such as pulmonary vascular obstructive disease, which progresses rapidly in some individuals, are gradually being recognized. However, there are many problems associated with cardiovascular surgery that should first be considered, such as appropriate timing and procedures as well as associated anomalies of other organs. To date, it is not yet clear whether cardiovascular surgery can improve the long-term prognosis of patients with these trisomies. Therefore, cardiovascular surgeries are performed at some institutions but are not even considered at the others. The aim of surgery is not only to prolong the life-span of patients but also to improve the quality of life of the patients and their families. When deciding on medical management strategies, it is essential to provide evidence-based and precise information to families of patients and to consider the best interest of the child and wishes of their families.

Key words: trisomy 18; trisomy 13; congenital heart disease; cardiovascular surgery; prognosis

This page was created on 2020-03-23T15:50:14.848+09:00
This page was last modified on 2020-04-24T14:14:45.000+09:00


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