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Case Report
 
Cardiac transplantation for dilated cardiomyopathy in a patient with friedreich's ataxia: A case report
Federico A Silva Sieger1, Gustavo A Díaz Silva2, Mario A Ardila Vera2, María F Saavedra Chacón2, Sylvia C Méndez Díaz3
1Neurovascular science group chief, Neurosciences Department, Fundación Cardiovascular de Colombia (FCV), Floridablanca, Santander, Colombia.
2Neuroscience research fellowship, Neurosciences Department, Fundación Cardiovascular de Colombia (FCV), Floridablanca, Santander, Colombia.
3PM & R, Neurosciences Department, Fundación Cardiovascular de Colombia (FCV), Floridablanca, Santander, Colombia.

doi:10.5348/ijcri-2012-06-134-CR-7

Address correspondence to:
Federico Arturo Silva Sieger
Calle 155a # 23-58, 3er piso
Fundación Cardiovascular de Colombia
Floridablanca, Santander
Colombia
Phone: 577- 6399292 Ext. 255
Fax: 577-6392744
Email: federicosilva@fcv.org

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How to cite this article:
Silva Sieger FA, Díaz Silva GA, Ardila Vera MA, Saavedra Chacon MF, Mendez Díaz SC. Cardiac transplantation for dilated cardiomyopathy in a patient with friedreich's ataxia: A case report. International Journal of Case Reports and Images 2012;3(6):30–33.


Abstract
Introduction: Friedreich's Ataxia (FA) is a hereditary spinocerebellar degenerative disease, whose main features include ataxia, dysarthria and lower limb arreflexia. Cardiomyopathy is an important cause of mortality in these patients and usually a late finding.
Case Report: We present a case of a young adult who underwent cardiac transplantation for cardiomyopathy of unknown cause in terminal state. This patient attended neurology consult six months after transplant due to gait instability, balance disturbances and dysarthria. The diagnosis of Friedreich's Ataxia was confirmed by genetic testing.
Conclusion: Few cases of Friedreich's Ataxia presenting as early cardiomyopathy have been published in the literature and to our knowledge this is the third report of cardiac transplantation in patients with this neurologic condition. This is probably because in most cases neurological disease is well established when cardiac compromise is evident, precluding the transplantation. Cardiac transplantation in these patients may improve life quality in the short term, but doesn't modify the disease's natural progression.

Key Words: Cardiac transplantation, Friedreich's ataxia, Dilated cardiomyopathy, Trinucleotide repeats

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Author Contributions:
Federico Silva Sieger - Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Gustavo A Díaz Silva - Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Mario A Ardila Vera - Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
María F Saavedra Chacón - Conception and design, Acquisition of data, Analysis and nterpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Sylvia C Méndez Díaz - Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Guarantor of submission:
The corresponding author is the guarantor of submission.
Source of support:
None
Conflict of interest:
Authors declare no conflict of interest.
Copyright:
© Federico A Silva Sieger et al. 2012; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.)