Situs Ambiguus - Causes

Causes

Although its etiology is poorly understood, it has been found to be linked to maternal diabetes mellitus, family history of malformations, and maternal cocaine use, suggesting both genetic and environmental factors play a role.

Genetic associations of heterotaxy include:

Type OMIM Gene Locus
HTX1 306955 ZIC3 Xq26.2
HTX2 605376 CFC1 2q21.1
HTX3 606325 PA26 6q21
HTX4 613751 ACVR2B 992
HTX5 270100 NODAL 10q22.1

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