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Hypertrophic Subaortic Stenosis Occurring in a Patient with Friedreich's Ataxia

The history of the first known case associating hypertrophic subaortic stenosis and Friedreich's alaxia is presented along with a brief discussion of the cardiomyopathy of Friedreich's alaxia. The patient presented at the age of seven with the classical neurological findings of Friedreich's alaxia and was noted to have a cardiac murmur consistent with dynamic sabaortic stenosis. Cardiac catheterization demonstrated a resting gradient between the inflow and outflow tract of the left ventricle. The gradient increased following the administration of Isoproterenol and amyl nitrite. An elevated first derivative of the brachial artery pulse and the typical decrease in the brachial artery pressure pulse following a premature ventricular contraction was also recorded.