Dextrocardia with situs inversus

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.

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.

Last updated on 05-01-20

How is dextrocardia with situs inversus diagnosed?

In some cases, a diagnosis of dextrocardia with situs inversus is suspected based on the presence of concerning signs and symptoms; however, it is often discovered by chance when an x-ray or ultrasound is performed to investigate a different condition. Computed tomography (CT) scanning is typically the preferred examination to confirm the diagnosis of dextrocardia with situs inversus. Magnetic resonance imaging may be substituted in cases that are associated with congenital heart defects.

Last updated on 05-01-20

Is dextrocardia with situs inversus inherited?

In most cases of dextrocardia with situs inversus, a specific genetic cause has not been identified and inheritance patterns have not been confirmed. However, approximately 25% of affected people have primary ciliary dyskinesia, which is typically inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.

Last updated on 05-01-20

How might dextrocardia with situs inversus be treated?

Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. For example, infants born with congenital heart defects or other organ malformations may require surgery.

The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections. GeneReviews offers more specific information on the treatment of Kartagener syndrome and other types of primary ciliary dyskinesia. Please click on the link to access this resource.

Last updated on 05-01-20

Where To Start

Cove Point Foundation - dextrocardia info page

The Cove Point Foundation part of the Johns Hopkins Children Hospital has developed an information page on dextrocardia. Click on the link above to view the information page.

Last updated on 04-27-20

Name: Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation Email: Url:
Name: Primary Ciliary Dyskinesia (PCD) Foundation 10137 Portland Avenue South
Minneapolis, MN, 55420, United States
Toll Free: 1-844-CURE-PCD (1-844-287-3723) Email: Url:
Name: Primary Ciliary Dyskinesia Family Support Group Email: Url:
Name: American Heart Association 7272 Greenville Avenue
Dallas, TX, 75231-4596, United States
Phone: 214-570-5978 Toll Free: 800-242-8721 Email: Url:
Name: The Children's Heart Foundation PO Box 244
Lincolnshire, IL, 60069-0244, United States
Phone: 847-634-6474 Toll Free: 888-248-8140 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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