Asplenia with cardiovascular anomalies explained

Asplenia with cardiovascular anomalies
Synonyms:Ivemark syndrome

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]

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]

Causes

The cause of heterotaxy is unknown.[5]

The Ivemark Syndrome Association, which is based in Dorset, is one of the organisations dedicated to helping patients and funding research.

Notes and References

  1. Web site: Ivemark Syndrome Association . Patient UK . 2008-11-10 . 2009-05-27. https://web.archive.org/web/20090530012745/http://www.patient.co.uk/showdoc/26740304/. 30 May 2009 . live.
  2. Konstantinidou . A. . Sifakis . S. . Koukoura . O. . Mantas . N. . Agrogiannis . G. . Patsouris . E. . 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 . Aug 2008 . 10.1002/bdra.20467 . 18496831 .
  3. IVEMARK . BI. . 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 . November 1955 . 10.1111/j.1651-2227.1955.tb05346.x. 13292296 . 221418617 .
  4. Web site: Ivemark Syndrome . National Organization for Rare Diseases . 2009-05-24. https://web.archive.org/web/20090528205340/http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Ivemark%20Syndrome. 28 May 2009 . live.
  5. News: 'Jigsaw Kid' lives with jumbled up internal organs . The Telegraph . 2009-05-22 . 2009-05-24. https://web.archive.org/web/20090525193252/http://www.telegraph.co.uk/news/newstopics/howaboutthat/5361788/Jigsaw-Kid-lives-with-jumbled-up-internal-organs.html. 25 May 2009 . live.

This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Asplenia with cardiovascular anomalies".

Except where otherwise indicated, Everything.Explained.Today is © Copyright 2009-2024, A B Cryer, All Rights Reserved. Cookie policy.