2009, Number 4
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Gac Med Mex 2009; 145 (4)
Cardiomiopatía hipertrófica en ataxia de Friedreich. Presentación de dos casos
Cervantes-Arriaga A, Rodríguez-Violante M, Villar-Velarde A, Vargas-Cañas S
Language: Spanish
References: 16
Page: 343-346
PDF size: 111.58 Kb.
ABSTRACT
Background: Friedreich’s ataxia is the most common hereditary ataxia and its clinical spectrum includes cardiac disease, mainly hypertrophic cardiomyopathy.
Methods: We present two cases with molecular diagnosis of Friedreich’s ataxia and cardiac disease shown on electrocardiogram and echocardiogram.
Results: Neurological symptoms which lead to the diagnosis are described together with cardiac comorbidities.
Conclusions: The cases here described highlight the importance of early screening and identification of systemic complications, specifically cardiac disease, in patients with this neurological disease.
REFERENCES
Unverferth DV, Schmidt WR, Baker PB, Wooley CF. Morphologic and functional characteristics of the heart in Friedreich’s ataxia. Am J Med 1987;82:5-10.
Harding AE, Hewer RL. The heart disease of Friedreich’s ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med 1983;52:489-502.
Spear WH, Wilber DJ. Cardiac arrhytmias. En: Biller J, editor. The interface of neurology and internal medicine. Philadelphia: Lippincott Williams & Wilkins; 2008. p. 63.
Hewer RL. Study of fatal cases of Friedreich’s ataxia. Br Med J 1968;3:649-652.
Rasmussen A, Gómez M, Alonso E, Bidichandani SI. Clinical heterogeneity of recessive ataxia in the Mexican population. J Neurol Neurosurg Psychiatry 2006;77:1370-1372.
Pandolfo M. Friedreich ataxia: The clinical picture. J Neurol 2009;256(Suppl 1):3-8.
Pandolfo M. Friedreich ataxia. Arch Neurol 2008;65:1296-1303.
Harding AE. Friedreich’s ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:589-620.
Dutka DP, Donnelly JE, Palka P, Lange A, Núñez D, Nihoyannopoulos P. Echocardiographic characterization of cardiomyopathy in Friedreich’s ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 2000;102:1276-1282.
Ribaï P, Pousset F, Tanguy ML, Rivaud-Pechoux S, Le Ber I, Gasparini F, et al. Neurological, cardiological and oculomotor progression in 104 patients with Friedereich ataxia during long term follow up. Arch Neurol 2007;64:558-564.
Meyer C, Schmid G, Görlitz S, Ernst M, Wilkens C, Wilhelms I, et al. Cardiomyopathy in Friedreich’s ataxia. Assessment by cardiac MRI. Mov Disord 2007; 22:1615-1622.
Giuglano GR, Sethi PS. Friedreich’s ataxia as a cause of premature coronary artery disease. Tex Heart Inst J 2007;34:214-217.
Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patient’s with Friedreich’s ataxia: a randomized, placebo-controlled trial. Lancet Neurol 2007;6:878-886.
Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, Eyskens B, et al. Idebenone treatment in Friedreich’s ataxia: neurological, cardiac, and biochemical monitoring. Neurology 2003; 60: 1679-1681.
Hausse AO, Aggoun Y, Bonnet D, et al. Idebenone and reduced cardiac hypertrophy in Friedreich’s ataxia. Heart 2002;87:346-349.
Schöls L, Zange J, Abele M, Schillings M, Skipka G, Kuntz-Hehner S, et al. L-carnitine and creatine in Friedreich’s ataxia. A randomized, placebocontrolled crossover trial. J Neural Transm 2005;112:789-796.