" /> Autosomal recessive cardiomyopathy or ophthalmoplegia - CISMeF





ICD-11 code : 8C73.0;

Preferred Label : Autosomal recessive cardiomyopathy or ophthalmoplegia;

ICD-11 definition : Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterized by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies shows ragged-red and cytochrome C oxidase-negative fibers; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes.;

ICD-11 synonym : Autosomal recessive cardiomyopathy and ophthalmoplegia; ARCO - [Autosomal recessive cardiomyopathy and ophthalmoplegia];

ICD-11 acronym : ARCO;

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Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterized by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies shows ragged-red and cytochrome C oxidase-negative fibers; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes.

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28/07/2025


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