Article Text

Download PDFPDF

Sex differences in congenital heart disease in Down syndrome: study data from medical records and questionnaires in a region of Japan
  1. Takako Takano1,
  2. Michio Akagi2,
  3. Haruyoshi Takaki3,
  4. Ryo Inuzuka4,
  5. Yoshitsugu Nogimori5,
  6. Hiroshi Ono6,
  7. Masahide Kaneko7,
  8. Norifumi Hagiwara8
  1. 1 Department of Child Health, Tokyo Kasei University, Itabashi-ku, Japan
  2. 2 Department of Medical Education, Kyorin University, Mitaka, Japan
  3. 3 Department of Nursing, Tokyo Healthcare University, Meguro-ku, Japan
  4. 4 Department of Pediatrics, University of Tokyo, Bunkyo-ku, Japan
  5. 5 Department of Cardiovascular Medicine, Kanagawa Childrens Medical Center, Yokohama, Japan
  6. 6 Division of Cardiology, National Center for Child Health and Development, Setagaya-ku, Japan
  7. 7 Department of Pediatrics, Kanto Central Hospital of the Mutual Aid Association of Public School Teachers, Setagaya-ku, Japan
  8. 8 Department of Pediatrics, Teikyo University, Itabashi-ku, Japan
  1. Correspondence to Dr Takako Takano; takano{at}


Reports indicate lower Down syndrome (DS) survival among females than among males in Australia, contrasting with female longevity in the general population. Using data on 1310 people with DS (626 females and 684 males) in Japan from five hospitals’ medical records and questionnaires completed by parents of people with DS, we investigated sex differences in congenital heart disease (CHD), which may be related to mortality. The CHD rate was significantly higher for females (354, 57%) than for males (338, 49%; p=0.010). Significantly more females (199, 32%) than males (175, 26%) underwent surgery for CHD (p=0.018).

  • Down syndrome
  • congenital heart disease
  • sex difference

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See:

Statistics from


  • Contributors TT designed the study, participated in the interpretation of the results and drafted the initial manuscript. MA participated in data collection and interpretation of the results. HT participated in data analysis and interpretation of the results. RI, YN, HO, MK and NH participated in data collection. All authors approved the final manuscript for submission.

  • Funding This work was supported by JSPS KAKENHI, grant number 23500893, Japan.

  • Competing interests None declared.

  • Patient and public involvement statement Not required.

  • Patient consent for publication Not Required

  • Ethics approval The study has received ethical approval from Tokyo Kasei University Ethics Committee, Kyorin University Ethics Committee, Teikyo University Ethics Committee, University of Tokyo Ethics Committee and National Center for Child Health and Development Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.