A primary diagnosis was made based on these findings as AM Type Ib with severe PH, heterotaxy syndrome of left-sided polysplenia, and an atrial septal defect.
In summary, AM is a rare, but important, cause of PH, and must be considered during the diagnostic work-up of PH in children, particularly when it is associated with heterotaxy syndrome.
DISCUSSION: Situs ambiguous or heterotaxy syndrome refers to malposition and dysmorphism of thoracic and atrial arrangement and vascular anomalies.
The most likely reason that our patient with heterotaxy syndrome was asymptomatic and felt well until she was 16 years of age was that she had no relevant structural or functional cardiac defect.
Heterotaxy syndrome is a general term that describes disruption in normal positioning of the visceral organs in the chest and abdomen.
Cardiac anomalies in the heterotaxy syndrome occur during embryogenesis.
Spontaneous Gastric perforation in a child with heterotaxy syndrome
Alternatively, in case of somatic mosaicism covering Hensen's node, which determines Nodal flow and lateralization during early embryogenesis (58, 59), it is possible that heterotaxy syndrome
develops without mutations detectable in blood or heart tissue.
Diagnosis of heterotaxy syndrome
(with polysplenia, azygous continuation of the IVC, repaired atrial septal defect and pulmonary arterial hypertension) was made, with incidental associated mild aortic coarctation and left renal dysplasia.
Adult presentation of heterotaxy syndromes
and related complexes.
It occurs in approximately 1 in 500 live births and is seen in the majority of children with heterotaxy syndromes