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,
Right atrial isomerism is named for its discoverer, Swedish pathologist Biörn Ivemark.[3]
Presentation
In right atrial isomerism, both atria of the heart are morphological right atria leading to associated abnormalities in the pulmonary venous system. In addition, individuals with right atrial isomerism develop asplenia, a midline liver, malrotation of the small intestine and the presence of two morphologic right lungs. Individuals with left atrial isomerism, by comparison, have two morphologic left atria, polysplenia, intestinal malrotation and two morphologic left lungs.[4]
The majority of cases present at the time of birth or within a few days or weeks. Presenting signs and symptoms of the congenital heart defect may include cyanosis, breathlessness, lethargy and poor feeding.[citation needed]
Causes
The cause of heterotaxy is unknown.[5]
The Ivemark Syndrome Association, which is based in Dorset,[1] is one of the organisations dedicated to helping patients and funding research.
Diagnosis
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Treatment
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References
- ^ a b "Ivemark Syndrome Association". Patient UK. 2008-11-10. Archived from the original on 30 May 2009. Retrieved 2009-05-27.
- PMID 18496831.
- S2CID 221418617.
- ^ "Ivemark Syndrome". National Organization for Rare Diseases. Archived from the original on 28 May 2009. Retrieved 2009-05-24.
- ^ "'Jigsaw Kid' lives with jumbled up internal organs". The Telegraph. 2009-05-22. Archived from the original on 25 May 2009. Retrieved 2009-05-24.