Summary
Cardiac examinations were performed on 18 patients with glycogen-storage disease (GSD) type III. Clinical examination was always normal and the electrocardiograms revealed nonspecific data. Similarly, serum muscular enzyme activities were not useful in indicating the presence of cardiomyopathy. Echocardiographic evidence of myocardiopathy was found in five of the 16 children studied (mean age, 9.5 years). Echocardiographic parameters remained stable during the follow-up period (at least 3 years). The other 11 children had no echocardiographic evidence of cardiomyopathy. No relationship was found between peripheral myopathy and cardiomyopathy.
All patients with GSD type III should be regularly investigated by echocardiography in respect of their cardiac muscle status.
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References
De Parscau L, Guibaud P, Labrune P, Odievre M (1988) Evolution à long terme des glycogénoses hépatiques. Etude rétrospective de 76 observations.Arch Fr Pediatr 45:641–645
DiMauro S, Miranda AF, Sakoda S, Schon EA, Servidei S, Shanske S, Zeviani M (1986) Metabolic myopathies.Am J Med Genet 25:635–651
Hers HG, Van Hoof F (1966) Enzymes of glycogen degradation in biopsy material.Methods Enzymol 8:525–532
Howell RR, Williams JC (1983) The glycogen storage diseases. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown M (ed)The metabolic basis of inherited diseases 1983, McGraw Hill, New York, pp 141–166
Labrune Ph, Chalas J, Pignon JP, Hennion C, Odievre M (1989) La détermination du taux sérique des enzymes musculaires au cours des glycogénoses avec atteinte hépatique: un critère d'orientation diagnostique.Ann Pediatr 36:299–301
Moses SW, Gadoth N, Bashan N, Ben-David E, Slonim A, Wanderman KL (1986) Neuromuscular involvement in glycogen storage disease type III.Acta Paediatr Scand 75:289–296
Olson LJ, Reeder GS, Noller KL, Edwards WD, Howell RR, Michels VV (1984) Cardiac involvement in glycogen storage disease type III: Morphologic and biochemical characterization with endomyocardial biopsy.Am J Cardiol 53:980–981
Rossignol AM, Meyer M, Rossignol B, Palcoux MP, Raynaud EJ, Bost M (1979) La myocardiopathie de la glycogénose de type III.Arch Fr Pediatr 36:303–309
Servidei S, DiMauro S (1989) Disorders of glycogen metabolism of muscle.Neurol Clin 7:159–178
Servidei S, Metlay LA, Chodosh J, DiMauro S (1988) Fatal cardiopathy caused by phosphorylase b kinase deficiency.J Pediatr 113:82–85
Servidei S, Riepe RE, Langston C, Tani LY, Bricker JT, Crisp-Lindgren N, Travers H, Armstrong D, DiMauro S (1987) Severe cardiopathy in branching enzyme deficiency.J Pediatr 111:51–56
Van Hoof F, Hers G (1967) The subgroups of type III glycogenosis.Eur J Biochem 2:265–270
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Labrune, P., Huguet, P. & Odievre, M. Cardiomyopathy in glycogen-storage disease type III: Clinical and echographic study of 18 patients. Pediatr Cardiol 12, 161–163 (1991). https://doi.org/10.1007/BF02238523
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DOI: https://doi.org/10.1007/BF02238523