Cardiovascular Abnormalities Associated with Heterotaxy Syndrome: A Case Series

Abstract

Heterotaxy syndromes result from the failure of normal lateralization, resulting in the abnormal arrangement of cardiothoracic and abdominal viscera. These are associated with a disproportionate morbidity and mortality rate, mandating early diagnosis, and surgical intervention. Accurate determination of situs, as well as congenital abnormalities, is necessary for surgical planning and determination of postoperative outcome and quality of life. In this case series, we present the spectrum of cardiac, pulmonary, and systemic vascular abnormalities associated with heterotaxy syndromes. Cardiac computed tomography angiography (CTA) was performed on 10 patients with heterotaxy syndromes diagnosed on echocardiography. We found that the most common congenital heart disease associated with heterotaxy in our case series was atrioventricular septal defect. Among the extracardiac vascular abnormalities, pulmonary infundibular stenosis, right-sided aortic arch, and double superior vena cava were common. Moreover, not all cases displayed congruence between cardiac, tracheobronchial, and visceral situs. In conclusion, CTA is useful in the diagnosis of intracardiac and extracardiac vascular abnormalities associated with heterotaxy syndromes. In addition, it gives valuable information about the tracheobronchial situs, visceral situs, and other congenital abnormalities.