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Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

  • Daniel T. Swarr
  • Beth Kaufman
  • Mark A. Fogel
  • Richard Finkel
  • Jaya GaneshEmail author
Case Report
Part of the JIMD Reports book series (JIMD, volume 5)

Abstract

Glycogen storage disease type II (OMIM #232300), or Pompe disease, may present in the newborn period with moderate-to-severe biventricular hypertrophy with or without left ventricular outflow tract obstruction that typically leads to death from cardiorespiratory failure in the first year of life. Glycogen deposition tends to be uniform, and is only occasionally accompanied by patchy areas of fibrosis. Here, we present an infant identified with biventricular hypertrophy and cardiac masses by prenatal ultrasound. Postnatal molecular studies did not support the diagnosis of tuberous sclerosis in this case. Additional evaluation for infantile hypertrophic cardiomyopathy confirmed the diagnosis of Pompe disease. We discuss whether the “cardiac masses,” which brought this infant to medical attention and facilitated an early diagnosis of Pompe disease, may represent an unusual manifestation of GSD type II or the coincidental occurrence of an unrelated disease process.

Keywords

Fabry Disease Tuberous Sclerosis Tuberous Sclerosis Complex Cardiac Magnetic Resonance Imaging Increase Signal Intensity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We would like to thank Dr. Paige Kaplan and Dr. Marc Yudkoff for their gracious assistance in editing this manuscript.

Supplementary material

Movie1.avi (10,171 KB)

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Daniel T. Swarr
    • 1
  • Beth Kaufman
    • 2
    • 3
  • Mark A. Fogel
    • 2
    • 3
  • Richard Finkel
    • 2
    • 4
  • Jaya Ganesh
    • 1
    • 2
    Email author
  1. 1.Department of Pediatrics, Section of Biochemical GeneticsThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  2. 2.Department of PediatricsUniversity of Pennsylvania School of MedicinePhiladelphiaUSA
  3. 3.Department of Pediatrics, Division of CardiologyThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  4. 4.Department of Pediatrics, Division of NeurologyThe Children’s Hospital of PhiladelphiaPhiladelphiaUSA

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