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Genetic and Rare Diseases Information Center (GARD)

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Dextrocardia with situs inversus

Other Names for this Disease
  • Situs inversus totalis
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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 40 genes have been identified as being required for the positioning and patterning of the organs in the body. Mutations in 9 different genes have been reported in individuals with either heterotaxy syndrome (when only some organs are involved) or situs inversus totalis, which suggests that in at least some individuals with either of these conditions, the cause may be genetic.[1] However, because a specific genetic cause has not been identified (and inheritance patterns have not been confirmed), it is difficult to estimate recurrence risks for the condition. Individuals interested in learning about their personal risk to have a child with this condition should speak with their health care provider or a genetics professional.

Some individuals with dextrocardia with situs inversus have it as part of an underlying disorder called primary ciliary dyskinesia, which is characterized by chronic respiratory tract infections, abnormally positioned internal organs (situs inversus), and the inability to have children (infertility). Primary ciliary dyskinesia is known to result from mutations in several different genes, but in many people with primary ciliary dyskinesia, the cause of the disorder is unknown. This condition is typically inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[2] When 2 individuals who are carriers for an autosomal recessive condition have a child, there is a 25% (1 in 4) chance for the child to have the condition, a 50% (1 in 2) chance for the child to be a carrier like each of the parents, and a 25% chance for the child to not have the condition and not be a carrier.
Last updated: 4/23/2012

  1. Alvin J Chin. Heterotaxy Syndrome and Primary Ciliary Dyskinesia. eMedicine. July 2, 2010; Accessed 2/2/2011.
  2. Primary ciliary dyskinesia. Genetics Home Reference. August 2010; Accessed 2/2/2011.