Heterotaxy

Heterotaxy is a rare birth defect that involves the heart and other organs. The term means "different arrangement." Any of the internal organs may be malformed, misplaced, multiplied, or missing.

Causes

The exact cause of heterotaxy is unknown. It is thought to be related to a variety of genetic and environmental factors. Some cases have been linked to mutations in the ZIC3, ACVR2B, and NODAL genes.

Symptoms

Symptoms of heterotaxy can vary greatly depending on the specific organs involved. Common symptoms include congenital heart defects, abdominal organ inversion, and spleen dysfunction.

Diagnosis

Heterotaxy is typically diagnosed through a combination of physical examination, imaging studies, and genetic testing. Imaging studies such as echocardiography, computed tomography (CT) scan, and magnetic resonance imaging (MRI) can help identify structural abnormalities in the heart and other organs. Genetic testing can identify mutations in the ZIC3, ACVR2B, and NODAL genes.

Treatment

Treatment for heterotaxy is typically focused on managing the specific symptoms and complications that occur as a result of the condition. This can include surgical correction of heart defects, management of spleen dysfunction, and treatment of any other organ abnormalities.

Prognosis

The prognosis for individuals with heterotaxy can vary greatly depending on the specific organs involved and the severity of the condition. With appropriate treatment and management, many individuals with heterotaxy can lead healthy lives.

See also

• Congenital heart defect
• ZIC3
• ACVR2B
• NODAL

References

Heterotaxy Resources
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