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  • Title: Hypertrophic cardiomyopathy in Friedreich's ataxia.
    Author: Van der Hauwaert LG, Dumoulin M.
    Journal: Br Heart J; 1976 Dec; 38(12):1291-8. PubMed ID: 1034480.
    Abstract:
    The cardiac findings in two sibs with Friedreich's ataxia are described. The clinical signs were suggestive of hypertrophic obstructive cardiomyopathy. During left heart catheterization a systolic pressure gradient across the left ventricular outflow tract could be provoked by an infusion of isoprenaline. Left ventricular angiocardiograms and echocardiograms showed gross thickening of the interventricular septum. In one patient a systolic anterior movement of the anterior leaflet of the mitral valve was seen. The importance of serial echocardiographic examination for patients with Friedreich's ataxia is emphasized.
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