Heterotaxy Syndrome and Primary Ciliary Dyskinesia Clinical Presentation

Updated: Apr 10, 2017
  • Author: Alvin J Chin, MD; Chief Editor: Stuart Berger, MD  more...
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Patients with heart malformations most frequently present with cyanosis in the first few days of life due to subpulmonary stenosis or atresia. Some individuals with subaortic stenosis and aortic arch obstruction present with poor perfusion. Severe common atrioventricular valve regurgitation, contributing to low output syndrome, is another possible presentation.

A small percentage of patients with heterotaxy are first identified because of abdominal pain and vomiting related to malrotation-caused intestinal obstruction.


Physical Examination

Cyanosis (if subpulmonary stenosis or atresia is present) or poor peripheral perfusion (if severe aortic arch obstruction or common atrioventricular valve regurgitation is present) are the most common findings in patients with heterotaxy. The liver may be on the left, rather than on the right, and it may span the abdomen. Dextrocardia may be identifiable.

Patients who present because of malrotation-caused obstruction may have abdominal distension, bilious vomiting and, rarely, melena.