Tests for Heterotaxy Syndrome

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When a patient shows symptoms of congestive heart failure or cyanosis (bluish skin), chest X-rays can identify some abnormalities that are present in heterotaxy syndrome.

Generally, the diagnosis of heterotaxy type heart disease is made by echocardiography (ultrasound study of the heart). 

Abdominal imagining is used to reveal abnormal positioning of the stomach, intestines or liver. 

For unborn babies, fetal echocardiograms (heart ultrasound) are used to detect the condition. 

Imaging is also used when babies have trouble dealing with infections, which may indicate a missing spleen or a malfunctioning spleen.

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