What are the other Names for this Condition? (Also known as/Synonyms)

• Situs Inversus Totalis

What is Dextrocardia with Situs Inversus? (Definition/Background Information)

• 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

(Source: Dextrocardia with Situs Inversus; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Dextrocardia with Situs Inversus? (Age and Sex Distribution)

• Dextrocardia with Situs Inversus is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Dextrocardia with Situs Inversus? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Dextrocardia with Situs Inversus
• The condition is known to be associated with primary ciliary dyskinesia

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Dextrocardia with Situs Inversus? (Etiology)

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
• 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

(Source: Dextrocardia with Situs Inversus; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Dextrocardia with Situs Inversus?

Some affected people have no obvious signs or symptoms. In others, the signs and symptoms of Dextrocardia with Situs Inversus may include:

• 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
• A small percentage of people have congenital heart defects, usually transposition of the great vessels
• Signs and symptoms of underlying disorders, if any

(Source: Dextrocardia with Situs Inversus; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

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

(Source: Dextrocardia with Situs Inversus; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Dextrocardia with Situs Inversus?

The complications of Dextrocardia with Situs Inversus may include:

• Heart defects
• Complications may occur with or without treatment, and in some cases, due to treatment also

How is Dextrocardia with Situs Inversus 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

(Source: Dextrocardia with Situs Inversus; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Dextrocardia with Situs Inversus be Prevented?

• Currently, Dextrocardia with Situs Inversus may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Dextrocardia with Situs Inversus? (Outcomes/Resolutions) 

• The prognosis of Dextrocardia with Situs Inversus is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Dextrocardia with Situs Inversus:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/