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Research Article
Hypertrophic cardiomyopathy in combination with juvenile amaurotic idiocy. Chance or fundamentally related findings?
  1. U Baandrup,
  2. B Rosenskjold,
  3. P Bjerregaard

    Abstract

    Hypertrophic cardiomyopathy and juvenile amaurotic idiocy (one of the ceroid lipofuscinoses ) were diagnosed in a 29 year old man. This combined finding may be one of pure coincidence, but hypertrophic cardiomyopathy like changes of the myocardium are known to occur in Friedreich's ataxia and lentiginosis . The occurrence may, therefore, indicate some fundamental interrelation.

    https://doi.org/10.1136/hrt.51.6.674

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