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Friedreich’s ataxia presenting after cardiac transplantation

Publication year
2001
Author(s)
Leonard, H.; Forsyth, R.
Pages
167-8.
Volume
84
Number
2

A 4 year old boy underwent cardiac transplantation because of cardiomyopathy with ischaemia. Following transplantation he developed neurological signs of Friedreich’s ataxia and the diagnosis was confirmed with genetic testing. Cardiomyopathy is a rare presentation of Friedreich’s ataxia and to our knowledge this is the first reported transplant operation for the cardiomyopathy associated with this condition.

Research abstracts