Asplenia with cardiovascular anomalies
| Asplenia with cardiovascular anomalies | |
|---|---|
| Other names | Ivemark syndrome |
| This condition is inherited in an autosomal recessive manner | |
| Specialty | Medical genetics |
Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism,[1] is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys. Another name is "asplenia-cardiovascular defect-heterotaxy".[2]
Right atrial isomerism is named for its discoverer, Swedish pathologist Biörn Ivemark.[3]
- ^ "Ivemark Syndrome Association". Patient UK. 2008-11-10. Archived from the original on 30 May 2009. Retrieved 2009-05-27.
- ^ Konstantinidou, A.; Sifakis, S.; Koukoura, O.; Mantas, N.; Agrogiannis, G.; Patsouris, E. (Aug 2008). "Pancreatic aplasia in a fetus with asplenia-cardiovascular defect-heterotaxy (Ivemark syndrome)". Birth Defects Research Part A: Clinical and Molecular Teratology. 82 (8): 601–4. doi:10.1002/bdra.20467. PMID 18496831.
- ^ IVEMARK, BI. (November 1955). "Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases". Acta Paediatrica Supplement. 44 (Suppl 104): 7–110. doi:10.1111/j.1651-2227.1955.tb05346.x. PMID 13292296. S2CID 221418617.