Heterotaxy syndrome
Last updated 22 Sept 2025
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Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.
Description
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.
In the normal body, most of the organs in the chest and abdomen have a particular location on the right or left side. For example, the heart, spleen, and pancreas are on the left side of the body, and most of the liver is on the right. This normal arrangement of the organs is known as "situs solitus." Rarely, the orientation of the internal organs is completely flipped from right to left, a situation known as "situs inversus." This mirror-image orientation usually does not cause any health problems, unless it occurs as part of a syndrome affecting other parts of the body. Heterotaxy syndrome is an arrangement of internal organs somewhere between situs solitus and situs inversus; this condition is also known as "situs ambiguus." Unlike situs inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes serious health problems.
Heterotaxy syndrome can alter the structure of the heart, including the attachment of the large blood vessels that carry blood to and from the rest of the body. It can also affect the structure of the lungs, such as the number of lobes in each lung and the length of the tubes (called bronchi) that lead from the windpipe to the lungs. In the abdomen, the condition can cause a person to have no spleen (asplenia) or multiple small, poorly functioning spleens (polysplenia). The liver may lie across the middle of the body instead of being in its normal position to the right of the stomach. Some affected individuals also have intestinal malrotation, which is an abnormal twisting of the intestines that occurs in the early stages of development before birth.
Depending on the organs involved, signs and symptoms of heterotaxy syndrome can include a bluish appearance of the skin or lips (cyanosis, which is due to a shortage of oxygen), breathing difficulties, an increased risk of infections, and problems with digesting food. The most serious complications are generally caused by critical congenital heart disease, a group of complex heart defects that are present from birth. Biliary atresia, a problem with the bile ducts in the liver, can also cause severe health problems in infancy.
The severity of heterotaxy syndrome varies depending on the specific abnormalities involved. Some affected individuals have only mild health problems related to the condition. At the other end of the spectrum, heterotaxy syndrome can be life-threatening in infancy or childhood, even with treatment.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked; Autosomal dominant; Not inherited; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Heterotaxy
HTX
Ivemark syndrome
Left isomerism
Right isomerism
Situs ambiguus
Situs ambiguus viscerum
Visceral heterotaxy
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Further reading and references
- Heterotaxy syndrome; MedlinePlus, National Library of Medicine.
- Deng H, Xia H, Deng S. Genetic basis of human left-right asymmetry disorders. Expert Rev Mol Med. 2015 Jan 27;16:e19. doi: 10.1017/erm.2014.22.
- El Malti R, Liu H, Doray B, Thauvin C, Maltret A, Dauphin C, Goncalves-Rocha M, Teboul M, Blanchet P, Roume J, Gronier C, Ducreux C, Veyrier M, Marcon F, Acar P, Lusson JR, Levy M, Beyler C, Vigneron J, Cordier-Alex MP, Heitz F, Sanlaville D, Bonnet D, Bouvagnet P. A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field. Eur J Hum Genet. 2016 Feb;24(2):228-36. doi: 10.1038/ejhg.2015.105. Epub 2015 May 27.
- Jacobs JP, Anderson RH, Weinberg PM, Walters HL 3rd, Tchervenkov CI, Del Duca D, Franklin RC, Aiello VD, Beland MJ, Colan SD, Gaynor JW, Krogmann ON, Kurosawa H, Maruszewski B, Stellin G, Elliott MJ. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young. 2007 Sep;17 Suppl 2:1-28. doi: 10.1017/S1047951107001138.
- Kim SJ. Heterotaxy syndrome. Korean Circ J. 2011 May;41(5):227-32. doi: 10.4070/kcj.2011.41.5.227. Epub 2011 May 31.
- Kuehl KS, Loffredo C. Risk factors for heart disease associated with abnormal sidedness. Teratology. 2002 Nov;66(5):242-8. doi: 10.1002/tera.10099.
- Lin AE, Krikov S, Riehle-Colarusso T, Frias JL, Belmont J, Anderka M, Geva T, Getz KD, Botto LD; National Birth Defects Prevention Study. Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014 Oct;164A(10):2581-91. doi: 10.1002/ajmg.a.36695. Epub 2014 Aug 6.
- Lopez KN, Marengo LK, Canfield MA, Belmont JW, Dickerson HA. Racial disparities in heterotaxy syndrome. Birth Defects Res A Clin Mol Teratol. 2015 Nov;103(11):941-50. doi: 10.1002/bdra.23416. Epub 2015 Sep 2.
- Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, Sagel SD, Milla C, Zariwala MA, Wolf W, Carson JL, Hazucha MJ, Burns K, Robinson B, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014 Nov;146(5):1176-1186. doi: 10.1378/chest.13-1704.
- Sutherland MJ, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17. doi: 10.1002/ajmg.c.30228.
- Teele SA, Jacobs JP, Border WL, Chanani NK. Heterotaxy Syndrome: Proceedings From the 10th International PCICS Meeting. World J Pediatr Congenit Heart Surg. 2015 Oct;6(4):616-29. doi: 10.1177/2150135115604470.
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