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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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Bibliografía
[1.]
J.B. Seward, G. Casaclang-Verzosa.
Inultrative cardiovascular diseases cardiomyopathies that look alike.
J Am Coll Cardiol, 55 (2010), pp. 1769-1779
[2.]
J. Gómez, G. Marcos, J. Vega, et al.
Miocardiopatía dilatada y ataxia de Friedreich.
Rev Esp Cardiol, 53 (2000), pp. 1671
[3.]
T.N. James, B.W. Cobbs, H.C. Coghlan, W.C. McCoy, C. Fisch.
Coronary disease, cardioneuropathy, and conduction system abnormalities in the cardiomyopathy of Friedreich's ataxia.
Br Heart J, 57 (1987), pp. 446-457
[4.]
L.M. Albano, S.D. Nishioka, R.L. Moysés, et al.
Friedreich's ataxia. Cardiac evaluation of 25 patients with clinical diagnosis and literature review.
Arq Bras Cardiol, 78 (2002), pp. 448-451
[5.]
G.R. Giugliano, P.S. Sethi.
Friedreich's ataxia as a cause of premature coronary artery disease.
Tex Heart Inst J, 34 (2007), pp. 214-217
[6.]
W.G. Groh, D.P. Zipes.
Neurological disorders and cardiovascular disease, Friedreich ataxia.
Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th, Saunders, (2007), pp. 2145-2146
[7.]
R.N. Rosenberg.
The inherited ataxia. Harrison Principles Of Internal Medicine.
16th, United States of America McGraw-Hill, (2005), pp. 2422-2423
[8.]
C. Gellera, D. Pareyson, B. Castellotti, et al.
Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.
Neurology, 49 (1997), pp. 1153-1155
[9.]
R.L. Hewer.
Study of fatal cases of Friedreich's ataxia.
Brit Med, 3 (1968), pp. 649-652
[10.]
P.R. Rustin, J.C. von Kleist-Retzow, D. Chantrel-Groussard, et al.
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study.
[11.]
A.O. Hausse, Y. Aggoun, D. Bonnet, et al.
Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia.
Heart, 87 (2002), pp. 346-349
[12.]
H. Seznec, D. Simon, L. Monassier, et al.
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deûcit in a mouse model for Friedreich ataxia.
Hum Mol Genet, 13 (2004), pp. 1017-1024
[13.]
J. Kosutic, D. Zamurovic.
High-dose beta-blocker hypertrophic cardiomyopathy therapy in a patient with Friedreich ataxia.
Pediatr Cardiol, 26 (2005), pp. 727-730
[14.]
M. Whitnall, Y.S. Rahmanto, R. Suta, et al.
The MCK mouse heart model of Friedreich's ataxia: alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation.
PNAS Proc Natl Acad Sci U S A., 105 (2008), pp. 9757-9762
[15.]
T. Rinaldi, S. Tucci, S. Maione, et al.
Low-dose idebenone treatment in Friedreich's ataxia with and without cardiac hypertrophy C.
J Neurol, 256 (2009), pp. 1434-1437
[16.]
A. Kipps, M. Alexander, S. Colan, et al.
The longitudinal course of cardiomyopathy in Friedreich's ataxia during childhood.
Pediatr Cardiol, 30 (2009), pp. 306-310
Copyright © 2012. Socidad Colombiana de Cardiología y Cirugía Cardiovascular
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