right atrial isomerism

Term ID

DOID:0060856

Synonyms

• asplenia with cardiovascular anomalies
• Ivemark syndrome

Definition

A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (2)

References

• ICD10CM:Q20.6
• OMIM:208530
• ORDO:97548

Ontology

Human Disease   ( DOID:0060856 )