Heterotaxy Syndrome and Primary Ciliary Dyskinesia Treatment & Management

Updated: Apr 10, 2017
  • Author: Alvin J Chin, MD; Chief Editor: Stuart Berger, MD  more...
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Medical Care

The cardiovascular phenotype of heterotaxy syndrome dictates inpatient care, and the selection of inpatient and outpatient medications is dependent on the cardiovascular phenotype and the success of the surgical palliation.

Continuous oral amoxicillin prophylaxis is currently recommended for those patients with an abnormal splenic phenotype. For ductal-dependent pulmonary blood flow or ductal-dependent systemic blood flow, prostaglandin E1 infusion is life saving. For common atrioventricular valve regurgitation, vasodilator therapy (eg, angiotensin-converting enzyme [ACE] inhibition) can be palliative. (See Medication.)

Arrhythmias, predominantly supraventricular, frequently complicate the preoperative and postoperative management.


Patients with presumptive heterotaxy should have a comprehensive evaluation by a pediatric cardiologist, a geneticist, and a cardiac surgeon.


Surgical Care

Surgical care is dependent on the underlying cardiovascular phenotype, with the most severe individuals typically being staged toward Fontan-type circulatory configurations. Pacing may be indicated in patients with third-degree atrioventricular block or sinus node dysfunction.

Cardiothoracic surgeons tend to use cavopulmonary connections rather than complicated intra-atrial baffles; thus, early survival after the Fontan operation has improved. However, survival is still clearly lower than for other patients without heterotaxy. Although part of this disparity can be attributed to the propensity of atrioventricular valve regurgitation to progress in heterotaxy patients, whether this is actually primarily due to ventricular deterioration (rather than the presence of an inherently different atrioventricular valve) is unclear.

Outpatient care

Further outpatient care depends on the cardiovascular phenotype, the success of the surgical palliation, and the presence of noncardiac anomalies, such as intestinal malrotation.