Medical Definition of Heterotaxy Syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Heterotaxy syndrome: This rare birth defect is characterized by heart defects and abnormal locations of internal organs. The condition is also known as isomerism. Typically, the organs develop on the opposite side of the body from which they are normally located. Babies who have this syndrome are usually identified because of defects in the heart or other organs.

Heterotaxy syndrome is rare and affects only about four out of 1,000,000 babies. Boys and girls are equally affected. The exact cause is not known. Symptoms are usually related to problems with the circulation due to the heart defects and can include cyanosis (bluish skin), poor feeding, rapid breathing, or poor weight gain. Treatment includes surgery to correct the abnormalities and medications to prevent heart failure.

Reviewed on 9/7/2018

REFERENCE:

"What Is Heterotaxy Syndrome?" Heterotaxy Foundation. <http://www.heterotaxy.org/pages/what_is_heterotaxy.aspx>.

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