National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dextrocardia with situs inversus


Other Names:
Situs inversus totalis
This disease is grouped under:
Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus.[1][2][3]
Last updated: 5/19/2015
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.[4]

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.[5]
Last updated: 5/19/2015
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.[6] 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: 5/19/2015
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.[1]
Last updated: 5/19/2015
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.[2][3]

The management of people affected by Kartagener syndrome typically includes measures to enhance clearance of mucus, prevent respiratory infections, and treat bacterial infections.[6] 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: 5/20/2015

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dextrocardia with situs inversus. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Dextrocardia with situs inversus:
    CHD GENES Study
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Dextrocardia with situs inversus. Click on the link to view a sample search on this topic.

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  1. Annamaria Wilhelm, MD. Situs Inversus Imaging. Medscape Reference. October 2013; http://emedicine.medscape.com/article/413679-overview.
  2. Dextrocardia. MedlinePlus. May 2014; http://www.nlm.nih.gov/medlineplus/ency/article/007326.htm.
  3. Dextrocardia with Situs Inversus. NORD. 2007; https://rarediseases.org/rare-diseases/dextrocardia-with-situs-inversus/.
  4. Alvin J Chin, MD. Heterotaxy Syndrome and Primary Ciliary Dyskinesia. Medscape Reference. May 2014; http://emedicine.medscape.com/article/896757-overview#showall.
  5. Primary ciliary dyskinesia. Genetics Home Reference. April 2014; http://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia.
  6. Maimoona A Zariwala, PhD, FACMG, Michael R Knowles, MD, and Margaret W Leigh, MD. Primary Ciliary Dyskinesia. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1122/#pcd.Differential_Diagnosis.