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Mitochondrial cardiomyopathy with involvement of skeletal muscles

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Summary

In this report we describe an idiopathic hypertrophic cardiomyopathy in a 21 month old infant girl, who died shortly after a small surgical intervention for cardiovascular failure. Fine structural investigation disclosed an extreme increase of often abnormally structured and enlarged mitochondria and a great loss of myofibrils in the heart muscle cells. Furthermore, mitochondrial hyperplasia was observed focally in all skeletal muscles investigated. The pathogenesis of this mitochondriopathy in heart and skeletal muscle is unknown. It might be a consequence of a functional mitochondrial defect with compensatory hyperplasia of mitochondria. Differential diagnosis of this very rare infantile cardiomyopathy from the myopathies of storage diseases, typical hypertrophic cardiomyopathy and carnitine defiency is discussed, as is the distinction from the oncocytic or so-called histiocytic transformation of heart muscle cells. Methological hints for diagnostic procedures are given.

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Authors and Affiliations

  1. Pathologisches Institut, Thalkirchner Straße 36, D-8000, München 2, Germany

    Gerhard Hübner

  2. Kinderchirurgische Klinik im Dr. v. Haunerschen Kinderspital der Universität München, D-8000, München, Germany

    Rainer Grantzow

Authors
  1. Gerhard Hübner
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  2. Rainer Grantzow
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Hübner, G., Grantzow, R. Mitochondrial cardiomyopathy with involvement of skeletal muscles. Vichows Archiv A Pathol Anat 399, 115–125 (1982). https://doi.org/10.1007/BF00666223

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  • DOI: https://doi.org/10.1007/BF00666223

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