Cardiac transplantation for dilated cardiomyopathy in a patient with friedreich's ataxia: A case report
| Autor: | Sylvia C Méndez Díaz, María F Saavedra Chacón, Gustavo Adolfo Díaz Silva, Mario A Ardila Vera, Federico Arturo Silva Sieger |
|---|---|
| Rok vydání: | 2012 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Ataxia Neurology business.industry Cardiomyopathy Dilated cardiomyopathy Disease medicine.disease nervous system diseases Surgery Transplantation Dysarthria Degenerative disease medicine medicine.symptom business |
| Zdroj: | International Journal of Case Reports and Images. 3:30 |
| ISSN: | 0976-3198 |
| DOI: | 10.5348/ijcri-2012-06-134-cr-7 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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