RT Journal Article
SR Electronic
T1 Friedreich's ataxia presenting after cardiac transplantation
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 167
OP 168
DO 10.1136/adc.84.2.167
VO 84
IS 2
A1 Leonard, H
A1 Forsyth, R
YR 2001
UL http://adc.bmj.com/content/84/2/167.abstract
AB 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.