Polysplenia

Common Name(s)

Polysplenia

Polysplenia is a disorder in which an individual has multiple spleens that are about equal in size. This disorder is caused by improper connection between parts of the spleen during fetal development. Polysplenia is usually accompanied by other developmental problems, particularly severe heart defects, which often results in death before the age of 5. Polysplenia is believed to be caused by environmental factors that disturb development in utero (teratogenic) or genetic factors. Female infants are affected more often than males.

Complications that are commonly seen with polysplenia include intestinal malrotation, biliary atresia, and cardiac abnormalities. Intestinal malrotation occurs when the intestines do not rotate properly during normal fetal development, and may lead to poor blood supply or physical blockages that prevent the intestines from functioning normally. Biliary atresia is another developmental abnormality in which the bile ducts that normally drain bile from the liver are blocked, and may lead to the accumulation of bile that damages the liver. Cardiac problems include severe defects in the major veins and arteries, displacement of the chambers of the heart, and a heart that is located on the opposite side of the chest. Only about 10% of affected individuals have either minor or no cardiac problems, allowing them to survive into adulthood without symptoms.

Polysplenia is often diagnosed in infants after heart problems are noticed. In less severe cases, polysplenia is diagnosed incidentally after medical imaging or surgery for other reasons. Medication or surgery may be used to treat the symptoms of polysplenia. Surgery is more complicated in affected individuals due to abnormalities in the arrangement and placement of multiple organs. If you or your child has been diagnosed with polysplenia, talk to your doctor about the most current treatment options.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Polysplenia" for support, advocacy or research.

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Heterotaxy Foundation

The Heterotaxy Foundation is a non-profit organization created to raise funds for research and promote awareness of a rare disease called Heterotaxy Syndrome.

Last Updated: 12 Feb 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Polysplenia" for support, advocacy or research.

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Heterotaxy Foundation

The Heterotaxy Foundation is a non-profit organization created to raise funds for research and promote awareness of a rare disease called Heterotaxy Syndrome.

http://www.heterotaxy.org

Last Updated: 12 Feb 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Polysplenia" returned 29 free, full-text research articles on human participants. First 3 results:

An adult case of polysplenia syndrome associated with sinus node dysfunction, dextrocardia, and systemic venous anomalies.
 

Author(s): Kentaro Fukuda, Toshihito Onda, Yuki Kimura, Seiji Miura, Rie Matsumori, Yoshiyuki Masaki, Akihisa Nishino, Kenji Inoue, Yasumasa Fujiwara, Masataka Sumiyoshi

Journal: Intern. Med.. 2015 ;54(9):1071-4.

 

A 54-year-old woman was referred to our hospital for symptomatic sinus bradyarrhythmia with a sinus pause of 8 seconds. She was diagnosed with dextrocardia during childhood and discovered to have heterotaxy syndrome when she had an appendectomy during her teenager years. Chest and ...

Last Updated: 7 May 2015

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Perinatal and infant outcomes of prenatal diagnosis of heterotaxy syndrome (asplenia and polysplenia).
 

Author(s): Maria C Escobar-Diaz, Kevin Friedman, Yishay Salem, Gerald R Marx, Brian T Kalish, Terra Lafranchi, Rahul H Rathod, Sitaram Emani, Tal Geva, Wayne Tworetzky

Journal: Am. J. Cardiol.. 2014 Aug;114(4):612-7.

 

Patients with heterotaxy syndrome (HS) have a range of anomalies and outcomes. There are limited data on perinatal outcomes after prenatal diagnosis. To determine the factors influencing perinatal and infant outcomes, we analyzed prenatal and postnatal variables in fetuses with HS ...

Last Updated: 4 Aug 2014

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[Polysplenia / levoisomerism].
 

Author(s): Agustina Sosa Beláustegui, Julia Muzio, Andrea Marchioni, Ana C Cohen, Mariano Volpacchio

Journal: Medicina (B Aires). 2014 ;74(2):120.

 

Last Updated: 16 Apr 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Polysplenia" returned 2 free, full-text review articles on human participants. First 3 results:

Polysplenia syndrome with agenesis of the dorsal pancreas and preduodenal portal vein presenting with obstructive jaundice--a case report and literature review.
 

Author(s): J P Low, D Williams, J R Chaganti

Journal: Br J Radiol. 2011 Nov;84(1007):e217-20.

 

Polysplenia, as part of the heterotaxy syndrome, is a rare embryological disorder which results from failure of development of the usual left-right asymmetry of organs. It is often associated with cardiac and biliary abnormalities, which are the usual causes of death in early neonatal ...

Last Updated: 20 Oct 2011

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Dorsal pancreas agenesis and polysplenia/heterotaxy syndrome: a novel association with aortic coarctation and a review of the literature.
 

Author(s): Suraj Kapa, Ferga C Gleeson, Santhi Swaroop Vege

Journal:

 

Agenesis of the dorsal pancreas is very rare and may be associated with other congenital disease states. It has a rare association with polysplenia/heterotaxy syndrome. Most commonly, these states occur due to errors in development of the asymmetric organs and may be associated with ...

Last Updated: 12 Jul 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Genetics of Heterotaxy and Related Congenital Heart Defects
 

Status: Recruiting

Condition Summary: Heterotaxy Syndrome; Congenital Heart Defects

 

Last Updated: 30 Apr 2015

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