Abstract

Background: Heterotaxy syndrome (HS) or situs ambiguous, is determined as a type of congenital disorders which is caused by failure to establish normal left–right (L–R) asymmetry during embryonic development. One of the characteristics of the resulting defects is segmental discordances along the L–R axis. There are two types of “situs ambiguous” right and left isomerism, both variants are associated with complex cardiac and visceral malformations. Material and method: Forty three patients aged from one day to 12-years-old, with congenital heart disease (CHD) and suspected HS underwent multi-detector computed tomography (MDCT) between 2011 and 2016. The MDCT images were acquired on a 16 slices scanner in all patients after performing echocardiography. Statistical data was presented as mean ± standard deviation. Results: Heterotaxy syndrome with right isomerism was in 53% (n = 23) patients (3 girls, 20 boys), a mean age 9.32 ± 6.2 months, and 47% (n = 20) patients had heterotaxy syndrome with left isomerism (16 girls and 4 boys), a mean age 23.7 = 8.3 months. Dextrocardia was detected in 26% (n = 11) patients with right isomerism and in 7% (n = 5) patients with left isomerism. Complex CHD were detected in all patients, and were as follows: atrioventricular septal defects (AVSD) was detected in 37% (n = 16), double outlet right ventricle (DORV) – 30% (n = 13 ), single ventricle (SV) – 19% (n = 8), transposition of great arteries (TGA) – 30% (n = 13), pulmonary stenosis and pulmonary atresia (PS and PA) – 30% (n = 13), total anomaly pulmonary vein connection (TAPVC) and partial anomaly pulmonary vein connection (PAPVC) – 53% (n = 23), hypoplasia left heart syndrome (HLHS) – 2% (n = 1), isolated ventricular septum defect (VSD) – 2% (n = 1), aortic coarctation (CoA) – 2% (n = 1), interrupted IVC with hemiazygous continuation – 35% (n = 15) (only in patients with left isomerism). Single right-sided SVC was detected in 53% (n = 23), single left-sided SVC in 16% (n = 7) and bilateral SVC in 30 % (n = 13). Conclusions: Mostly patients with HS have complex CHD and require accurately assessment for future management. Multidetector computed tomography allows to obtain detailed data on the morphology of the heart, great vessels, the anatomy of the internal organs and their mutual arrangement, make an accurate diagnosis of HS.

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