Abstract
Pompe disease is a genetic disorder caused by a deficiency of acid α-glucosidase (GAA). Patients with classic infantile-onset Pompe disease usually present with hypertrophic cardiomyopathy and die before 1 year of age, if not treated with enzyme replacement therapy (ERT). In comparison, patients with late-onset Pompe disease typically do not have hypertrophic cardiomyopathy. However, here we describe five patients who presented with hypertrophic cardiomyopathy but did not fit the criteria of classic infantile-onset Pompe disease. Their ages at diagnosis of cardiomyopathy were 1 month in two patients following detection of an audible cardiac murmur and 2–3 years in the three remaining patients. All patients survived for 5–8 years without ERT. Three patients died before the advent of ERT from causes other than congestive heart failure. One patient had a good response to ERT starting at 5 years of age. The sibling of one patient, who did not receive ERT and died at age seven, was diagnosed prenatally. At 3 months of age, the sibling had hypertrophic cardiomyopathy, and a muscle biopsy at that time revealed glycogen accumulation.
This case series demonstrates that Pompe disease is a continuum of disease, and the development of cardiomyopathy is not limited to classic infantile-onset Pompe disease. These patients do not fit into the discrete phenotypes of infantile- or late-onset Pompe disease, which may suggest reconsidering the nomenclature of Pompe disease.
Competing interests: None declared
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Communicated by: Verena Peters
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Take-Home Message
Hypertrophic cardiomyopathy may present in childhood in patients with Pompe disease.
Compliance with Ethics GuidelinesConflict of Interest
Yin-Hsiu Chien has received research grants from Genzyme, a Sanofi company.
Wuh-Liang Hwu has received research grants and traveling funds from Genzyme, a Sanofi company.
Dr Dong-Hwan Lee, Dr Wen-Juan Qiu, and Dr Jeongho Lee have no financial disclosures to make with regard to the development or research of this manuscript and declare that they have no conflict of interest.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained as part of the Pompe Registry study in Soonchunhyang University Hospital and National Taiwan University Hospital. Informed consent was waived for retrospective medical information with no identifying information about patients from Xinhua Hospital included in the article.
Author Contribution to the Manuscript
Dong-Hwan Lee and Wuh-Liang Hwu planned and conducted this research, and Wen-Juan Qiu, Jeongho Lee, and Yin-Hsiu Chien contributed to the cases.
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Lee, DH., Qiu, WJ., Lee, J., Chien, YH., Hwu, WL. (2014). Hypertrophic Cardiomyopathy in Pompe Disease Is Not Limited to the Classic Infantile-Onset Phenotype. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports, Volume 17. JIMD Reports, vol 17. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_339
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DOI: https://doi.org/10.1007/8904_2014_339
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