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Diseases

Genetic and Rare Diseases Information Center (GARD)

Dextrocardia with situs inversus


Other Names for this Disease
  • Situs inversus totalis
Related Diseases
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Cause

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What causes dextrocardia with situs inversus?

The exact cause of dextrocardia with situs inversus is not known, but the condition results from the abnormal positioning of the internal organs during fetal development. More than 60 known genes are important for the proper positioning and patterning of the organs in the body. However, a specific genetic cause of dextrocardia with situs inversus has not been identified and inheritance patterns have not been confirmed in most cases.[1]

Some people have dextrocardia with situs inversus as part of an underlying condition called primary ciliary dyskinesia. Primary ciliary dyskinesia can result from changes (mutations) in several different genes, including the DNAI1 and DNAH5 gene; however, the genetic cause is unknown in many families.[2]
Last updated: 5/19/2015

References
  1. Alvin J Chin, MD. Heterotaxy Syndrome and Primary Ciliary Dyskinesia. Medscape Reference. May 2014; http://emedicine.medscape.com/article/896757-overview#showall.
  2. Primary ciliary dyskinesia. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.


Other Names for this Disease
  • Situs inversus totalis
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.