[Familial heterotaxy syndrome. Case report and review of the international literature]

Abstract

The authors report two families with two affected siblings of heterotaxy syndrome. Ivemark syndrome with asplenia and complex cardiovascular malformation occurred in two siblings of the first family. The first affected sibling in the second family had situs inversus, transposition of the great arteries with spleen on the right side of the abdomen. Ivemark syndrome with polysplenia and cardiovascular malformation were present in the second affected sibling of the second family. Autosomal recessive inheritance of Ivemark syndrome was reported in the most of the cases, but there are several cases of autosomal dominant inherited Ivemark syndrome. X-linked inheritance of heterotaxy syndrome is also known. Heterotaxy syndromes could also occurred in chromosomal translocation or deletion in sporadic cases. The molecular genetic studies were not able to find the mutation responsible for heterotaxy syndrome. The diagnosis of heterotaxy syndrome could be made by foetal echocardiography until molecular genetic methods are available. Therefore, in the case of positive anamnesis, foetal echocardiography on the 18-20 weeks of gestation is essential diagnostic method.