eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Heterotaxy, Polysplenia

Author: Kevin M Shannon, MD, Associate Professor, Division of Pediatric Cardiology, Director of Pediatric Electrophysiology Program, UCLA School of Medicine; Consulting Staff, Pediatric Cardiology Clinic, Olive View-UCLA Medical Center
Contributor Information and Disclosures

Updated: Apr 22, 2009

Introduction

Background

Polysplenia is a heterogeneous disease that primarily affects the asymmetric organs, including the heart, lungs and bronchi, liver, intestines, and spleen.1,2 Primary manifestations of this disease include cyanotic congenital heart disease, biliary atresia, intestinal malrotation,3 and functional asplenia.

Pathophysiology

The exact cause of polysplenia has not been defined, but it appears to be multifactorial, with some familial predisposition. Embryologically, it results from failure of development of right-left asymmetry. Several candidate genes have been suggested as causing failure of lateralization, and genetically engineered animal models have similar findings.

Frequency

United States

Polysplenia accounts for approximately 0.4% of cases of congenital heart disease and occurs in an estimated 4 per 1 million live births.

Mortality/Morbidity

Approximately 80% of patients with polysplenia have congenital heart disease. Mortality can result from congenital heart disease, biliary atresia, intestinal malrotation, or sepsis. In one large retrospective review from Canada, the 1-year mortality rate was 32% and the 15-year mortality rate was 49%.

Race

No predisposition based on race has been reported.

Sex

No predisposition based on sex has been reported. However, polysplenia has been reported to sometimes be transmitted in an X-linked recessive fashion.

Age

Polysplenia is present from birth, although clinical detection may be delayed, depending on the severity of congenital heart disease and GI abnormalities.

Clinical

History

Patients with polysplenia most commonly present with symptoms of congenital heart disease in the newborn period. Jaundice caused by biliary tract abnormalities is the second most common neonatal presentation. A small percentage of patients present with abdominal symptoms or are diagnosed because of an incidental finding of situs abnormalities (eg, dextrocardia, intestinal malrotation).4

Physical

Cyanosis, congestive heart failure, and persistent jaundice are the most common physical findings in patients who present in the newborn period. For patients who present later, isolated dextrocardia (with right-sided heart sounds) and a transverse liver may be the only abnormalities observed on physical examination.

Causes

The cause or causes of polysplenia syndrome are unknown but are believed to be multifactorial. The incidence of polysplenia has not been studied extensively, but it appears to be rare, comprising less than 1% of congenital heart defects. In a 26-year retrospective study at the Hospital for Sick Children in Toronto Canada, only 91 cases were identified. Familial cases have been reported, along with single-family reports of gene linkage. However, no reproducible patterns of inheritance have been identified, nor has a gene for this disease been identified. Different forms of heterotaxy, including asplenia and polysplenia, may occur within the same family. Animal studies have implicated several genes as possible causes of polysplenia syndrome. Retinoic acid has been implicated as a cause of polysplenia syndrome in mouse embryos.

Polysplenia syndrome is commonly associated with other defects of lateralization, including intestinal malrotation, transverse liver, and genitourinary abnormalities.5

More on Heterotaxy, Polysplenia

Overview: Heterotaxy, Polysplenia
Differential Diagnoses & Workup: Heterotaxy, Polysplenia
Treatment & Medication: Heterotaxy, Polysplenia
Follow-up: Heterotaxy, Polysplenia
Multimedia: Heterotaxy, Polysplenia
References
Further Reading
[ CLOSE WINDOW ]

References

  1. Bartram U, Fischer G, Kramer HH. Congenitally interrupted inferior vena cava without other features of the heterotaxy syndrome: report of five cases and characterization of a rare entity. Pediatr Dev Pathol. Jul-Aug 2008;11(4):266-73. [Medline].

  2. Kapa S, Gleeson FC, Vege SS. Dorsal pancreas agenesis and polysplenia/heterotaxy syndrome: a novel association with aortic coarctation and a review of the literature. JOP. Jul 9 2007;8(4):433-7. [Medline].

  3. Ferdman B, States L, Gaynor JW, Hedrick HL, Rychik J. Abnormalities of intestinal rotation in patients with congenital heart disease and the heterotaxy syndrome. Congenit Heart Dis. Jan 2007;2(1):12-8. [Medline].

  4. Halac M, Mut SS, Ylmaz S, Ergul N, Sonmezoglu K. Appearance of situs inversus totalis and polysplenia syndrome on FDG PET/CT. Clin Nucl Med. Feb 2008;33(2):142-3. [Medline].

  5. Cohen MS, Anderson RH, Cohen MI, Atz AM, Fogel M, Gruber PJ, et al. Controversies, genetics, diagnostic assessment, and outcomes relating to the heterotaxy syndrome. Cardiol Young. Sep 2007;17 Suppl 2:29-43. [Medline].

  6. Atkinson DE, Drant S. Diagnosis of heterotaxy syndrome by fetal echocardiography. Am J Cardiol. Nov 1 1998;82(9):1147-9, A10. [Medline].

  7. Bartram U, Wirbelauer J, Speer CP. Heterotaxy syndrome -- asplenia and polysplenia as indicators of visceral malposition and complex congenital heart disease. Biol Neonate. 2005;88(4):278-90. [Medline].

  8. Belmont JW, Mohapatra B, Towbin JA, Ware SM. Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. May 2004;19(3):216-20. [Medline]. [Full Text].

  9. Berg C, Geipel A, Kamil D, et al. The syndrome of left isomerism: sonographic findings and outcome in prenatally diagnosed cases. J Ultrasound Med. Jul 2005;24(7):921-31. [Medline]. [Full Text].

  10. Chen SJ, Li YW, Wang JK, et al. Usefulness of electron beam computed tomography in children with heterotaxy syndrome. Am J Cardiol. Jan 15 1998;81(2):188-94. [Medline].

  11. Ditchfield MR, Hutson JM. Intestinal rotational abnormalities in polysplenia and asplenia syndromes. Pediatr Radiol. May 1998;28(5):303-6. [Medline].

  12. Gayer G, Apter S, Jonas T, et al. Polysplenia syndrome detected in adulthood: report of eight cases and review of the literature. Abdom Imaging. Mar-Apr 1999;24(2):178-84. [Medline].

  13. Gilljam T, McCrindle BW, Smallhorn JF, et al. Outcomes of left atrial isomerism over a 28-year period at a single institution. J Am Coll Cardiol. Sep 2000;36(3):908-16. [Medline].

  14. Hofstaetter C, Plath H, Hansmann M. Prenatal diagnosis of abnormalities of the fetal venous system. Ultrasound Obstet Gynecol. Mar 2000;15(3):231-41. [Medline].

  15. Ticho BS, Van Praagh R. Inherited structural heart diseases associated with arrhythmias: Defects in laterality. In: Berul CI, Towbin JA, eds. Molecular Genetics of Cardiac Electrophysiology. Boston, MA: Kluwer Academic Publishers; 2000:317-28.

  16. Uemura H, Ho SY, Anderson RH, Yagihara T. Ventricular morphology and coronary arterial anatomy in hearts with isometric atrial appendages. Ann Thorac Surg. May 1999;67(5):1403-11. [Medline].

  17. Uemura H, Ho SY, Devine WA, Anderson RH. Analysis of visceral heterotaxy according to splenic status, appendage morphology, or both. Am J Cardiol. Oct 15 1995;76(11):846-9. [Medline].

  18. Yoo SJ, Kim YM, Choe YH. Magnetic resonance imaging of complex congenital heart disease. Int J Card Imaging. Apr 1999;15(2):151-60. [Medline].

  19. Zissin R, Rathaus V, Oscadchy A, et al. Intestinal malrotation as an incidental finding on CT in adults. Abdom Imaging. Nov-Dec 1999;24(6):550-5. [Medline].

[ CLOSE WINDOW ]

Keywords

polysplenia, heterotaxy syndrome, left atrial isomerism, polysplenia syndrome, cyanotic congenital heart disease, biliary atresia, intestinal malrotation, functional asplenia, jaundice, congenital heart disease, sepsis, dextrocardia, treatment, diagnosis

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Kevin M Shannon, MD, Associate Professor, Division of Pediatric Cardiology, Director of Pediatric Electrophysiology Program, UCLA School of Medicine; Consulting Staff, Pediatric Cardiology Clinic, Olive View-UCLA Medical Center
Kevin M Shannon, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Medical Editor

Charles I Berul, MD, Associate Professor of Pediatrics, Harvard Medical School; Senior Associate, Department of Cardiology, Children's Hospital of Boston
Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Heart Rhythm Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Julian M Stewart, MD, PhD, Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College
Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

CME Editor

Gilbert Z Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center
Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD, Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin
Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.