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.
Competing interests: None declared.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
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 9:88–100
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 101:332–337
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 68:64–80
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–W102
Ehlers KH, Hagstrom JW, Lukas DS, Redo SF, Engle MA (1962) Glycogen-storage disease of the myocardium with obstruction to left ventricular outflow. Circulation 25:96–109
Hohn AR, Lowe CU, Sokal JE, Lambert EC (1965) cardiac problems in the glycogenoses with specific reference to Pompe's disease. Pediatrics 35:313–321
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 64:1305–1315
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 148:671–676
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 37:1103–1106
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 13:731–741
Shapir Y, Roguin N (1985) Echocardiographic findings in Pompe's disease with left ventricular obstruction. Clin Cardiol 8:181–185
Verhoef S, Bakker L, Tempelaars AM et al (1999) High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64:1632–1637
Acknowledgments
We would like to thank Dr. Paige Kaplan and Dr. Marc Yudkoff for their gracious assistance in editing this manuscript.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Olaf Bodamer.
One-Sentence Take-Home Message
One-Sentence Take-Home Message
Cardiac masses may be an unusual presenting feature of the infantile form of glycogen storage disease type II, and may be identifiable on prenatal ultrasound evaluation.
Rights and permissions
Copyright information
© 2011 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Swarr, D.T., Kaufman, B., Fogel, M.A., Finkel, R., Ganesh, J. (2011). Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease. In: JIMD Reports - Case and Research Reports, 2012/2. JIMD Reports, vol 5. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_85
Download citation
DOI: https://doi.org/10.1007/8904_2011_85
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-28095-5
Online ISBN: 978-3-642-28096-2
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)