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Vol. 19. Issue 2.
Pages 100-104 (February - March 2012)
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Vol. 19. Issue 2.
Pages 100-104 (February - March 2012)
Open Access
Cardiopatía dilatada en ataxia de Friedreich: El punto sin retorno
Dilated cardiomyopathy in Friedreich's ataxia: point of no return
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Luis E. Silva1,2, Leidy P. Prada1,2, Hugo Páez2,3, Andrés F. Buitrago2,
Corresponding author
abuitrag@uniandes.edu.co

Correspondencia: Dr. Andrés F. Buitrago, Calle 119 No. 7-75. Teléfono: (571) 6 03 03 03. Extensión 5492, Bogotá, DC., Colombia.
, Carlos Franco2, Robinson Sánchez2, Iván Rendón2,3
1 Universidad de Los Andes, Bogotá, DC., Colombia
2 Hospital Universitario Fundación Santa Fe de Bogotá. Bogotá, DC., Colombia
3 Universidad El Bosque, Bogotá, DC., Colombia
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Las cardiopatías infiltrativas se caracterizan por el depósito de sustancias en el miocardio que causan un impacto negativo en la arquitectura de la pared ventricular. La ataxia espino-cerebelosa de Friedreich es una enfermedad degenerativa, heredada, con carácter autosómico recesivo. Clínicamente se caracteriza por ataxia de extremidades y tronco, hiporreflexia, neuropatía periférica, retinopatía y cardiopatía, entre otros. La afectación cardíaca es muy frecuente y se detectan alteraciones en estudios pos-mortem en 95% a 100% de los pacientes. La tasa de mortalidad es elevada y se considera una enfermedad incurable, a pesar de la existencia actual de múltiples medicamentos en estudio basados en los fundamentos fisiopatológicos de esta afección.

Palabras clave:
ataxia de Friedreich
cardiopatías infiltrativas
cardiomiopatía dilatada
idebenona

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.

Keywords:
Friedreich's ataxia
infiltrative heart disease
dilated cardiomyopathy
idebenone
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Copyright © 2012. Socidad Colombiana de Cardiología y Cirugía Cardiovascular
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