Abstract
We present a undescribed condition in a girl who died at 8 years of hypertrophic cardiomyopathy. Muscle and endomyocardial biopsies disclosed a selective loss of thick filaments ultrastructurally. In muscle biopsy histochemical abnormalities of myofibrillar AT-Pase were confined to type 1 fibres. Gel electrophoresis of muscle homogenate showed no qualitative abnormalities of slow and fast myosin heavy chains (MHC) and light chains, and the amount of the different myosin isozymes was in agreement with histochemical myofibrillar ATPase findings. The pathogenetic mechanisms have not been elucidated in this case but we suspect an abnormality of theβ-cardiac MHC gene, the only gene expressed in the heart and in type 1 skeletal muscle fibres.
Similar content being viewed by others
References
Caforio ALP, Rossi B, Risaliti R, Siciliano G, Marchetti A, Angelini C, Crea F, Mariani M, Muratorio A (1989) Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: evidence of subclinical myogenic myopathy. J Am Coll Cardiol 14:1464–1473
Carpenter S, Karpati G, Rothman S, Watters G (1976) The childhood type of dermatomyositis. Neurology 26:952–962
Danon MJ, Carpenter S (1991) Myopathy with thick filament (myosin) loss following prolonged paralysis with vecuronium during steroid treatment. Muscle Nerve 14:1131–1139
Dubowitz V (1985) Muscle biopsy. A practical approach, 2nd edn. Bailleiere-Tindall, London, pp 3–40
Dufour E, Ouali A, Obled A, Deval C, Valin C (1989) Lysosomal proteinase-sensitive regions in fast and slow skeletal muscle myosins. Biochimie 71:625–632
Edwards YH, Parkar M, Povey S, West LF, Parrington JM, Solomon E (1985) Human myosin heavy chain genes assigned to chromosome 17 using a human cDNA clone as probe. Ann Hum Genet 49:101–109
Fidzianska A, Badurska B, Ryniewicz B, Dembek I (1981) Cap disease: new congenital myopathy. Neurology 31:1113–1116
Geisterfer-Lowrance AAT, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG (1990) A molecular basis for familial hypertrophic cardiomyopathy: aβ cardiac myosin heavy chain gene missense mutation. Cell 62:999–1006
Hirano M, Ott BR, Raps EC, Lennihan L, Hair LS, Hays AP (1991) Acute steroid myopathy and nondepolarizing blocking agents. A 1064. Neurology 41 [Suppl]:421
Laemmli UK (1970) Cleavage of structural protein during the assembly of the head of bacteriophage T4. Nature 227:680–685
Lowey S (1986) The structure of vertebrate muscle myosin. In: Engel AG, Banker BD (eds) Myology. Basic and clinical. McGraw-Hill, New York, pp 563–587
O'Farrel PM (1975) High resolution two-dimensional electrophoresis of protein. J Biol Chem 250:4007–4021
Saez U, Leinwand LA (1986) Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle. Nucleic Acids Res 14:2951–2969
Saez IJ, Gianola KM, McNally EM, Feghali R, Eddy R, Shows TB, Leinwand LA (1987) Human cardiac myosin heavy chain genes and their linkage in the genome. Nucleic Acids Res 15:5443–5459
Salviati G, Betto R, Danieli Betto D, Zeviani M (1983) Myofibrillar protein isoforms and sarcoplasmic reticulum Ca2+-transport activity of single human muscle fibers. Biochem J 224:215–225
Sher JH, Shafig SA, Schutta HS (1979) Acute myopathy with selective lysis of myosin filaments. Neurology 29:100–106
Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE (1990) A molecular basis for familial hypertrophic cardiomyopathy: anα/β cardiac myosin heavy hybrid gene. Cell 62:991–998
Waclawik AJ, Sufit RL, Beinlich BR, Schutta HS (1990) Acute myopathy with selective degeneration of myosin filaments following status asthmaticus. J Neurol Sci [Suppl] 98:470
Yarom R, Shapira Y (1977) Myosin degeneration in a congenital myopathy. Arch Neurol 34:114–115
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Bertini, E., Bosman, C., Salviati, G. et al. Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments. Vichows Archiv A Pathol Anat 422, 327–331 (1993). https://doi.org/10.1007/BF01608343
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01608343