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

Heterotaxy, Polysplenia: Differential Diagnoses & Workup

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

Differential Diagnoses

Asplenia

Other Problems to Be Considered

Situs inversus (Kartagener syndrome)

Workup

Laboratory Studies

  • Useful laboratory studies in polysplenia include a CBC count with peripheral smear to look for Howell-Jolly bodies and evidence of impaired splenic function.
  • ABG measurements to assess for cyanotic heart disease may also be indicated.

Imaging Studies

  • Complete echocardiography is indicated in any patient with suspected polysplenia to evaluate for associated congenital heart disease.
  • Routine chest radiography is indicated to assess the cardiac size and location, the bronchial anatomy (usually bilateral left bronchi are present), and abdominal situs.

    Chest radiograph in a female adolescent with poly...

    Chest radiograph in a female adolescent with polysplenia. This image demonstrates characteristic findings such as an enlarged, left-sided azygous arch (black arrows) that indicates inverted caval interruption anatomy. Bilateral hyparterial bronchi also strongly suggest heterotaxy with a left-sided tendency. The aortic arch (A) is on the right, and the cardiac apex and stomach are on the left. The white arrowheads point to symmetrical epibronchial pulmonary arteries.

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    Chest radiograph in a female adolescent with poly...

    Chest radiograph in a female adolescent with polysplenia. This image demonstrates characteristic findings such as an enlarged, left-sided azygous arch (black arrows) that indicates inverted caval interruption anatomy. Bilateral hyparterial bronchi also strongly suggest heterotaxy with a left-sided tendency. The aortic arch (A) is on the right, and the cardiac apex and stomach are on the left. The white arrowheads point to symmetrical epibronchial pulmonary arteries.

  • In addition, an upper GI study has been proposed as a routine study in patients with polysplenia because of the high incidence of intestinal malrotation and the risk of volvulus.
  • Liver-spleen scanning and abdominal ultrasonography are useful for determination of organ size, location, and function. Liver-spleen scanning is indicated to confirm the presence of functional splenic tissue. The presence of multiple small spleens is common in polysplenia.

Other Tests

  • A 12-lead ECG is often helpful because an abnormal P wave axis is common in patients with polysplenia, and conduction system abnormalities (eg, complete heart block, sick sinus syndrome, supraventricular tachycardia [SVT]) are common.
  • Additional studies of cardiac conduction, particularly 24-hour Holter monitoring, may be indicated by the clinical setting.
  • Additional studies of the biliary tract may be indicated in patients with prolonged jaundice or other signs of biliary atresia.

Procedures

  • Patients presenting with cardiac malformations often require cardiac catheterization on one or more occasions. In the newborn period, cardiac catheterization may be indicated to assess systemic and pulmonary venous connections. Later, cardiac catheterization may be indicated to determine individual candidacy for surgical intervention.
  • Cardiac catheterization can often be carried out with a venous approach, accessing the left heart through an atrial septal defect (ASD) or patent foramen ovale (PFO). This is particularly important in the newborn period when small vessel size can increase the risk of vascular complication. Although no data are available, the authors' experience with catheterization via the umbilical vein has suggested that many patients with heterotaxy syndrome have an abnormal ductus venosus, making cannulation difficult. However, umbilical venous cannulation is possible and can preserve femoral access for future interventions.
  • The goals of diagnostic catheterization are usually to provide hemodynamic and physiologic data to assist with medical and surgical decision-making. Anatomic information is rarely required in the era of modern echocardiography. Echocardiography can be limited in assessing pulmonary venous return, branch pulmonary artery anatomy, and aortopulmonary collaterals; thus, these issues occasionally require clarification via cardiac catheterization.
  • Postcatheterization precautions include hemorrhage, vascular disruption after balloon dilation, pain, nausea and vomiting, and arterial or venous obstruction from thrombosis or spasm.
  • Possible complications include rupture of blood vessel, tachyarrhythmias, bradyarrhythmias, and vascular occlusion.

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
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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].

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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

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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.

 
 
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