Cardiac malformations in patients with oral-facial-skeletal syndrome: clinical similarities with heterotaxia
. Am J Med Genet 1999;84:350-356.
PDPV is rarely an isolated incident associated with Situs inversus or heterotaxia
or with associated cardiac anomalies, asplenia or poly splenia, biliary atresia, duodenal atresia, malrotation.
Malformaciones cardiacas, heterotaxia
SIR 2005 film panel case: Heterotaxia
Radtke et al., "Heterotaxia
syndrome and autosomal dominant inheritance," American Journal of Medical Genetics, vol.
Polysplenia and asplenia typically occurs in association with situs ambiguous which is also known as heterotaxia
. Situs ambiguous with asplenia (Ivemark syndrome), also referred to as right isomerism or bilateral right sidedness, is characterized by ambiguous location of the abdominal organs and congenital absence of most or all of normal splenic tissues.
Some studies have demonstrated that human orthologue of the Nodal signaling genes, ACVR2B (12), LEFTYA (13) and CFC1 (14), were mutated in patients with heterotaxia
. However, the etiology in most of the patients with laterality defects (heterotaxia
syndromes) is thought to be chromosomal or polygenic-multifactorial, rather than monogenic.
When the visceroatrial situs cannot be determined, the condition is called situs ambiguous or heterotaxia