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Heterotaxy Syndrome is defined as the abnormal arrangement of organs inside the chest and abdomen of an individual.

The topic Heterotaxia you are seeking is a synonym, or alternative name, or is closely related to the medical condition Heterotaxy Syndrome.

Quick Summary:

  • Heterotaxy Syndrome is defined as the abnormal arrangement of organs inside the chest and abdomen of an individual
  • The term is derived from the Greek language, in which “hetero” means ‘other than’ and “taxis” translates to ‘arrangement’. Thus, the name of the condition signifies “other than normal arrangement”
  • Approximately, 3% of all congenital heart defects are reported to occur as a result of Heterotaxy Syndrome. The condition is more common among the Asian, African-American, and Hispanic populations
  • In most cases, the syndrome develops sporadically, with no family history of the condition. In about 10% of cases, those with Heterotaxy Syndrome may have an immediate family member with the disorder. In addition, exposure to environmental toxins has also been reported to cause the syndrome
  • Mutation(s) in over 60 genes have been described in individuals with the syndrome, which may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner
  • The symptoms of Heterotaxy Syndrome may include the absence of spleen, heart defects, breathing difficulties, and issues with digestion. Generally, a diagnosis of the condition is made through imaging of internal organs to identify abnormalities
  • The treatment is determined by the organ affected and extent of malformation. The treatment of Heterotaxy Syndrome may include medications and/or surgery to correct malformations
  • The prognosis of Heterotaxy Syndrome is dictated by the severity of malformations. Typically, those diagnosed before birth or in early childhood have poorer outcomes than those who are diagnosed with the condition into adulthood

Please find comprehensive information on Heterotaxy Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

What are some Useful Resources for Additional Information?

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126 Gaithersburg, MD 20898-8126
Toll-Free: (888) 205-2311
TTY: (888) 205-3223
International Telephone Access Number: (301) 251-4925
Fax: (301) 251-4911
Website: http://rarediseases.info.nih.gov

National Institutes of Health (NIH)
9000 Rockville Pike Bethesda, MD 20892
Phone: (301) 496-4000
TTY: (301) 402-9612
Email: NIHinfo@od.nih.gov
Website: http://www.nih.gov

National Heart, Lung, and Blood Institute (NHLBI)
6701 Rockledge Drive P.O. Box 30105 Bethesda, MD 20824-0105
Phone: (301) 592-8573
Fax: (301) 592-8563
Email: nhlbiinfo@nhlbi.nih.gov
Website: http://www.nhlbi.nih.gov

The Children’s Heart Foundation
PO Box 244 Lincolnshire, IL 60069-0244
Phone: (847) 634-6474
Toll-Free: (888) 248-8140
Email: info@childrensheartfoundation.org
Website: http://www.childrensheartfoundation.org

References and Information Sources used for the Article:

https://rarediseases.info.nih.gov/diseases/10875/heterotaxy (accessed on 06/28/2017)

https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome#inheritance (accessed on 06/28/2017)

http://www.chop.edu/conditions-diseases/heterotaxy-syndrome-isomerism (accessed on 06/28/2017)

https://www.rileychildrens.org/health-info/heterotaxy (accessed on 06/28/2017)

http://pdxscholar.library.pdx.edu/cgi/viewcontent.cgi?article=1409&context=open_access_etds (accessed on 06/28/2017)

http://www.chd-uk.co.uk/types-of-chd-and-operations/heterotaxy-syndrome/ (accessed on 06/28/2017)

http://www.heterotaxy.org/Pages/what_is_heterotaxy.aspx (accessed on 06/28/2017)

https://www.cincinnatichildrens.org/health/s/sv (accessed on 06/28/2017)

https://medicine.yale.edu/surgery/pediatric/care/information/general/intestinal.aspx (accessed on 06/28/2017)

Helpful Peer-Reviewed Medical Articles:

Ferdman, B., States, L., Gaynor, J. W., Hedrick, H. L., & Rychik, J. (2007). Abnormalities of intestinal rotation in patients with congenital heart disease and the heterotaxy syndrome. Congenital heart disease, 2(1), 12-18.

Hong, Y. K., Park, Y. W., Ryu, S. J., Won, J. W., Choi, J. Y., Sul, J. H., ... & Choe, K. O. (2000). Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. Journal of computer assisted tomography, 24(5), 671-682.

Bartram, U., Wirbelauer, J., & Speer, C. P. (2005). Heterotaxy syndrome–asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. Neonatology, 88(4), 278-290.

Taketazu, M., Lougheed, J., Yoo, S. J., Lim, J. S., & Hornberger, L. K. (2006). Spectrum of cardiovascular disease, accuracy of diagnosis, and outcome in fetal heterotaxy syndrome. The American journal of cardiology, 97(5), 720-724.