Complete Heart Block with Myocardial Membrane-Bound Glycogen and Normal Peripheral α-Glucosidase Activity
Authors: Debasish Tripathy, Rosalind A. Coleman, Humberto J. Vidaillet, Charles Steenbergen, Kurt Hirschhorn, Douglas L. Packer
Journal: Annals of Internal Medicine (1988)

Brief Reports15 December 1988Complete Heart Block with Myocardial Membrane-Bound Glycogen and Normal Peripheral α-Glucosidase ActivityDebasish Tripathy, MD, Rosalind A. Coleman, MD, Humberto J. Vidaillet Jr., MD, Charles Steenbergen, MD, PhD, Kurt Hirschhorn, MD, Douglas L. Packer, MDDebasish Tripathy, MDSearch for more papers by this author, Rosalind A. Coleman, MDSearch for more papers by this author, Humberto J. Vidaillet Jr., MDSearch for more papers by this author, Charles Steenbergen, MD, PhDSearch for more papers by this author, Kurt Hirschhorn, MDSearch for more papers by this author, Douglas L. Packer, MDSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-109-12-985 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptAlthough 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 ReportA previously well 18-year-old black male forklift operator noticed increased fatigue and headaches...References1. SteenbergenKolbeckWolfeAnthonySan FilippoJennings CPJRFR. Detection of lymphocytes in endomyocardium using immunohistochemical techniques: relevance to evaluation of endomyocardial biopsies in suspected cases of lymphocytic myocarditis. J Appl Cardiol. 1986;1:63-73. Google Scholar2. HowellWilliams RJ. The glycogen storage diseases. In: Stanbury JB, Wyngaarden JB, Frederickson DS, et al, eds. The Metabolic Basis of Inherited Disease. 5th ed. New York: McGraw-Hill; 1983:141. Google Scholar3. BharatiSerrattoDuBrow SMI. The conduction system in Pompe's disease. Pediatr Cardiol. 1982;2:25-32. CrossrefMedlineGoogle Scholar4. AtkinSnowZellwegerRhead JJHW. Fatal infantile cardiac glycogenosis without acid maltase deficiency presenting as congenital hydrops [Letter]. Eur J Pediatr. 1984;142:150. CrossrefMedlineGoogle Scholar5. RiggsSchochetGutmannShanskeNealDi-Mauro JSLSWS. Lysosomal glycogen storage disease without acid maltase deficiency. Neurology. 1983;33:873-7. CrossrefMedlineGoogle Scholar6. DanonOhDiMauro MSS. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981;31:51-7. CrossrefMedlineGoogle Scholar7. AntipolBoasLevisonTuchman WEWL. Cardiac hypertrophy caused by glycogen storage disease in a fifteen-year-old boy. Am Heart J 1940;20:546-56. CrossrefGoogle Scholar8. MehriziOppenheimer AE. Heart failure associated with unusual deposition of glycogen in the myocardium. Bull Johns Hopkins Hosp. 1960;107:329-36. Google Scholar9. ReuserKroosWillemsenSwallowTagerGaljaard AMRDJH. Clinical diversity in glycogenosis type II: biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts. J Clin Invest. 1987;79:1689-99. CrossrefMedlineGoogle Scholar10. SlonimColemanMcElligot ARM. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology 1983;33:34-8. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: From Duke University Medical Center, Durham, North Carolina; and Mt. Sinai School of Medicine, New York, New York. For current author addresses, see end of text. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByThe Genetics of Conduction DiseasePacemaker Malfunctions in Danon's DiseaseDanon Disease as a Cause of Autophagic Vacuolar MyopathyNosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form 15 December 1988Volume 109, Issue 12Page: 985-987KeywordsGlycogen storage diseasesGlycogensHistologyMedical geneticsMetabolic disordersMusclesMuscular dystrophiesMyocardiumPediatricsYoung adults Issue Published: 15 December 1988 PDF DownloadLoading ...