Resumo

SILVA, Luis E et al. Dilated cardiomyopathy in Friedreich's ataxia: point of no return. Rev. Colomb. Cardiol. [online]. 2012, vol.19, n.2, pp.100-104. ISSN 0120-5633.

Infiltrative heart diseases are characterized by deposit of substances in the myocardium that cause a negative impact on the architecture of the ventricular wall. Friedreich's spino-cerebellar ataxia is a degenerative disease, inherited in an autosomal recessive pattern. Clinically it is characterized by limb and trunk ataxia, hyporeflexia, peripheral neuropathy, retinopathy and heart disease among others. Cardiac involvement is common and on post-mortem studies cardiac abnormalities are found in 95% to 100% of patients. The mortality rate is high and it is considered an incurable disease, despite the current existence of multiple medications being studied, based on the pathophysiological basis of this condition.

Palavras-chave : Friedreich's ataxia; infiltrative heart disease; dilated cardiomyopathy; idebenone.

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