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Complete Heart Block with Myocardial Membrane-Bound Glycogen and Normal Peripheral α-Glucosidase Activity

Debasish Tripathy, MD; Rosalind A. Coleman, MD; Humberto J. Vidaillet Jr., MD; Charles Steenbergen, MD, PhD; Kurt Hirschhorn, MD; and Douglas L. Packer, MD
[+] Article and Author Information

Grant Support: Partial support from National Institutes of Health grants RR-30 from the General Clinical Research Centers Program; Clinical Investigator Award HL01337 to Charles Steenbergen, MD; and a grant from the Muscular Dystrophy Association to Kurt Hirschhorn, MD.

Requests for Reprints: Rosalind A. Coleman, MD, Duke University Medical Center, Pediatrics, Genetics, and Metabolism, Box 3028, Durham, NC 27710.

Current Author Addresses: Dr. Tripathy: University of California at San Francisco, Cancer Research Institute, Moffitt 1282, San Francisco, CA 94143.

Dr. Coleman: Duke University Medical Center, Pediatrics, Genetics, and Metabolism, Box 3028, Durham, NC 27710.

Dr. Vidaillet: Department of Cardiology, Marshfield Clinic, Marshfield, WI 54449.

Dr. Steenbergen: Duke University Medical Center, Box 3712, Durham, NC 27710.

Dr. Hirschhorn: Department of Pediatrics, Mt. Sinai School of Medicine, 1 Gustave Levy Place, New York, NY 10029.

Dr. Packer: Duke University Medical Center, Box 31160, Durham, NC 27710.


Ann Intern Med. 1988;109(12):985-987. doi:10.7326/0003-4819-109-12-985
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This excerpt has been provided in the absence of an abstract.

Although many metabolic and infiltrative diseases are associated with conduction disturbances in children and young adults, these conduction abnormalities are rarely the presenting feature of disease. We describe a young man presenting with complete atrioventricular nodal block in whom an endomyocardial biopsy showed membrane-bound glycogen resembling glycogen storage disease type II (GSD-II, Pompe disease). The glycogenosis appeared to be limited to the myocardium because the rest of the physicial examination, as well as histology and enzyme studies of muscle and of skin fibroblasts, were normal.

Case Report: A previously well 18-year-old black male forklift operator noticed increased fatigue and headaches

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