Copyright © 1992 by the European Society of Cardiology.
© 1992 The European Society of Cardiology
Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study
Service de Cardiologie Hopital Pitie-Salpetriere, Paris, France
*Service de Neurologie et Neuropsychologie and INSERM U.289 Hopital Pitie-Salpetriere, Paris, France
Received 4 July 1991; revised 24 January 1992; .
Corrtspondtnce: Pr M. Komajda, Service de Cardiologie, Hopilal Pitie-Salpetricre, 47/83 Bd de I'Hopital, 75651 Paris Cedex 13, France
Abstract
Heart involvement is frequent in Friedreich's ataxia (FA), the most prevalent of the spino-cerebellar degenerative diseases, which is inherited with an autosomal recessive pattern. However, the pathophysiological link between cardiac and neurological disorders is not yet clearly established.
We compared a group of 10 patients with FA to a control group (C) of 16 normal subjects, using Doppler-echocardiographv. To see whether cardiac involvement was specific to FA, the data of patients with FA were also compared to those of patients with autosomal dominant olivo-ponto-cerebellar atrophia (OPCA). another spino-cerebellar degenerative disease.
There was an increase in left ventricular mass index in FA (154±9g . m–2 vs 99±7 g. m–2 in C, P<0·001), systolic function was normal, the ejection fraction (EF) slope and El A ratio were decreased (85±9 mm . s–1 vs 130±7 mm . s–1 in C, P<0·001 and l·5±01 vs 1·7±01 in C, P<0·01, respectively), while the isovolumic relaxation period was increased (96±3 ms vs92±2 ms in C, P <0·01). Deceleration time and time-velocity integrals of A wave to total mitral flow were not modified. In OPCA only the E/A ratio was decreased (1·5±0·1 vs 1·7±0·1 in C, P<0·05).
These data show the presence of cardiomyopathy in FA with left ventricular hypertrophy and suggest the presence of diastolic function abnormalities. The cardiomyopathy seems specifically associated with FA and not to spinocerebellar degenerative disease in general.
Key Words: Friedreich's ataxia • olivo-ponto-cerebellar atrophia • cardiomyopathy and Doppler-echocardiography
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  D. P. Dutka, J. E. Donnelly, P. Palka, A. Lange, D. J. R. Nunez, and P. Nihoyannopoulos Echocardiographic Characterization of Cardiomyopathy in Friedreich's Ataxia With Tissue Doppler Echocardiographically Derived Myocardial Velocity Gradients Circulation, September 12, 2000; 102(11): 1276 - 1282. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D P Dutka, J E Donnelly, P Nihoyannopoulos, C M Oakley, and D J Nunez Marked variation in the cardiomyopathy associated with Friedreich's ataxia Heart, February 1, 1999; 81(2): 141 - 147. [Abstract] [Full Text]
|
|
|
|
|
|
R. Isnard, H. Kalotka, A. Durr, M. Cossee, M. Schmitt, F. Pousset, D. Thomas, A. Brice, M. Koenig, and M. Komajda Correlation Between Left Ventricular Hypertrophy and GAA Trinucleotide Repeat Length in Friedreich's Ataxia Circulation, May 6, 1997; 95(9): 2247 - 2249. [Abstract] [Full Text]
|
|
|
|
 |
|
 A. Durr, M. Cossee, Y. Agid, V. Campuzano, C. Mignard, C. Penet, J.-L. Mandel, A. Brice, and M. Koenig Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia N. Engl. J. Med., October 17, 1996; 335(16): 1169 - 1175. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. L. Schwartz, G. F. Cox, A. E. Lin, M. S. Korson, A. Perez-Atayde, R. V. Lacro, and S. E. Lipshultz Clinical Approach to Genetic Cardiomyopathy in Children Circulation, October 15, 1996; 94(8): 2021 - 2038. [Abstract] [Full Text]
|
|