Summary
To identify the severity of cardiac involvement in glycogen storage disease type III (GSDIII), and its relation to skeletal muscle involvement and age, 23 patients were studied. The median age was 10 years. Echocardiography, electrocardiography, and creatine phosphokinase (CK) levels were used to assess cardiac and skeletal muscle involvement. Septal and left ventricular posterior wall measurements were compared with normal data. Shortening fraction was derived from left ventricular cavity dimensions. In some patients the echocardiogram resembled that of hypertrophic cardiomyopathy. Thirteen of 20 electrocardiograms (ECG) were abnormal. Eleven patients had septal and/or posterior wall thickness >95% confidence limits (CL). Despite this, cardiac symptoms were uncommon. The CK levels were not directly associated with cardiac abnormalities. Older patients (>20 years) had more abnormal measurements of posterior wall thickness than did younger ones (<20 years). This finding, albeit in a cross-sectional series, suggests progressive myocardial involvement with age despite the absence of symptoms.
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References
Ehlers KH, Hagstrom JWC, Lukas DS, Redo SF, Engle MA (1962) Glycogen storage disease of the myocardium with obstruction to the 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
Pernot C, Loth P, Gautier M (1978) Myocardiopathies des glycogenoses. Arch Mal Coeur 4:428–436
Rossignol AM, Meyer M, Rossignol B, Palcoux MP, Raynaud EJ, Bost M (1979) La myocardiopathie de la glycogenose type III. Arch Franc Pediat 36:303–309
Miller CG, Alleyne GA, Brooks AEH (1972) Gross cardiac involvement in glycogen storage disease type III. Br Heart J 34:862–864
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
Spencer-Peet J, Normal ME, Lake BD, McNamara J, Patrick AD (1971) Hepatic glycogen storage disease: Clinical and laboratory findings in 23 cases. Quart J Med 40:95–114
Henry WL, Gardin JM, Ware JH (1980) Echocardiographic measurements in normal subjects from infancy to old age. Circulation 62:1054–1060
Moses SW, Wandeman KL, Myroz A, Frydman M (1989) Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 148:764–766
Labrune P, Huguet P, Odievre M (1991) Cardiomyopathy in glycogen storage disease type III: Clinical and echographic study of 18 patients. Pediatr Cardiol 12:161–163
Brown BL, Brown DH (1968) Glycogen storage disease: Types I, III, IV, V, and VII and unclassified glycogenoses. In: Dickens F, Randle PJ, Whelan WJ (eds) Carbohydrate metabolism and its disorders. Academic, London, pp 123–150
DiMauro S, Hartwig GB, Hays A, Eastwood AB, Franco R, Olarte M, Chang M, Roses AD, Fetell M, Schoenfeldt RS, Stern LZ (1979) Debranch deficiency: Neuromuscular disorder in five adults. Ann Neurol 5:422–436
Slonin AE, Coleman Ra, Moses WS (1984) Myopathy and growth failure in debrancher enzyme deficiency: Improvement with high protein nocturnal therapy. J Pediatr 105:906–911
Shapiro LM, McKenna WJ (1983) Distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: A two-dimensional echocardiographic study. J Am Coll Cardiol 2:437–444
McKenna WJ, Deanfield JE (1984) Hypertrophic cardiomyopathy: An important cause of sudden death. Arch Dis Child 59:971–975
McKenna WJ, Deanfield J, Faruqui A, England D, Oakley C, Goodwin J (1981) Prognosis in hypertrophic cardiomyopathy: Role of age and clinical, electrocardio-graphic, and hemodynamic features. Am J Cardiol 47:532–538
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Carvalho, J.S., Matthews, E.E., Leonard, J.V. et al. Cardiomyopathy of glycogen storage disease type III. Heart Vessels 8, 155–159 (1993). https://doi.org/10.1007/BF01744800
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DOI: https://doi.org/10.1007/BF01744800