Friedreich's ataxia presenting after cardiac transplantation.
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.
Leonard
H
H
Freeman Hospital, Newcastle-upon-Tyne NE7 7DN, UK. helen.leonard@tfh.nuth.northy.nhs.uk
Forsyth
R
R
D017668:Age of Onset; D009202:Cardiomyopathies / Q000209:etiology / Q000601:surgery*; D002675:Child, Preschool; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D016027:Heart Transplantation; D006801:Humans; D008297:Male; D011183:Postoperative Complications / Q000209:etiology*; D011379:Prognosis