Pediatric Cardiology

, Volume 34, Issue 6, pp 1511–1513 | Cite as

Berry Syndrome: A Possible Genetic Link

  • Natalie Jayaram
  • Joshua Knowlton
  • Sanket Shah
  • Mark Gelatt
  • Gary Lofland
  • Geetha Raghuveer
Case Report

Abstract

Berry syndrome comprises a rare combination of heart defects that includes aortopulmonary window, interrupted aortic arch, intact ventricular septum, and aortic origin of the right pulmonary artery. We report the case of a neonate confirmed to have Berry syndrome by transthoracic echocardiogram and computed tomography (CT). This neonate had the additional finding of an aberrant right subclavian artery arising from the descending aorta. A single-stage repair was successfully performed when the infant was 7 days of age. Genetic testing showed a 102-kb deletion within chromosome band 9p24.2; this deletion has not been previously linked to congenital heart defects. Berry syndrome can be diagnosed accurately by transthoracic echocardiogram and CT. There may be an underlying genetic etiology, and this possibility warrants further investigation.

Keywords

Aortopulmonary window Interrupted aortic arch Berry syndrome Microarray testing 

References

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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Natalie Jayaram
    • 1
  • Joshua Knowlton
    • 1
  • Sanket Shah
    • 1
  • Mark Gelatt
    • 1
  • Gary Lofland
    • 1
  • Geetha Raghuveer
    • 1
  1. 1.Children’s Mercy HospitalKansas CityUSA

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