Heterotaxy
Heterotaxy
Heterotaxy (pronounced: het-er-oh-tax-ee) is a rare birth defect that involves the arrangement of the internal thoracic-abdominal organs across the left-right axis of the body. This condition results in abnormal placement and arrangement of the heart, lungs, liver, spleen, and stomach. The etymology of the term comes from the Greek words "heteros" meaning different and "taxis" meaning arrangement.
Symptoms
Symptoms of heterotaxy can vary greatly depending on the specific organ involvement. Common symptoms include difficulty breathing, cyanosis (bluish skin), and failure to thrive. Other symptoms may include congenital heart defects, asplenia or polysplenia, and malrotation of the intestines.
Causes
The exact cause of heterotaxy is unknown, but it is believed to be due to a combination of genetic and environmental factors. Some cases have been associated with mutations in the ZIC3, ACVR2B, and NODAL genes.
Diagnosis
Diagnosis of heterotaxy is typically made through a combination of physical examination, medical history, and imaging studies such as echocardiography, computed tomography (CT) scan, or magnetic resonance imaging (MRI).
Treatment
Treatment for heterotaxy is typically focused on managing the specific symptoms and complications associated with the condition. This may include surgeries to correct heart defects, medications to manage symptoms, and regular monitoring and follow-up care.
Prognosis
The prognosis for individuals with heterotaxy can vary greatly depending on the severity of the condition and the specific organ involvement. With appropriate treatment and management, many individuals with heterotaxy can lead healthy lives.
See also
External links
- Medical encyclopedia article on Heterotaxy
- Wikipedia's article - Heterotaxy
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