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)


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.


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.



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)


  1. Au KS, Williams AT, Roach ES et al (2007) Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genet Med 9:88–100PubMedCrossRefGoogle Scholar
  2. Barker PC, Pasquali SK, Darty S et al (2010) Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy. Mol Genet Metab 101:332–337PubMedCrossRefGoogle Scholar
  3. Dabora SL, Jozwiak S, Franz DN et al (2001) Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64–80PubMedCrossRefGoogle Scholar
  4. De Cobelli F, Esposito A, Belloni E et al (2009) Delayed-enhanced cardiac MRI for differentiation of Fabry's disease from symmetric hypertrophic cardiomyopathy. AJR Am J Roentgenol 192:W97–W102PubMedCrossRefGoogle Scholar
  5. Ehlers KH, Hagstrom JW, Lukas DS, Redo SF, Engle MA (1962) Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow. Circulation 25:96–109PubMedCrossRefGoogle Scholar
  6. Hohn AR, Lowe CU, Sokal JE, Lambert EC (1965) cardiac problems in the glycogenoses with specific reference to Pompe's disease. Pediatrics 35:313–321PubMedGoogle Scholar
  7. Jones AC, Shyamsundar MM, Thomas MW et al (1999) Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64:1305–1315PubMedCrossRefGoogle Scholar
  8. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148:671–676PubMedCrossRefGoogle Scholar
  9. Rees A, Elbl F, Minhas K, Solinger R (1976) Echocardiographic evidence of outflow tract obstruction in Pompe's disease (glycogen storage disease of the heart). Am J Cardiol 37:1103–1106PubMedCrossRefGoogle Scholar
  10. Sancak O, Nellist M, Goedbloed M et al (2005) Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. Eur J Hum Genet 13:731–741PubMedCrossRefGoogle Scholar
  11. Shapir Y, Roguin N (1985) Echocardiographic findings in Pompe's disease with left ventricular obstruction. Clin Cardiol 8:181–185PubMedCrossRefGoogle Scholar
  12. Verhoef S, Bakker L, Tempelaars AM et al (1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64:1632–1637PubMedCrossRefGoogle Scholar

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

Personalised recommendations