title: Cardiomyopathy in tyrosinaemia type I is common but usually benign.
abstract: Tyrosinaemia type I (TTI) is an inherited multisystemic disorder of tyrosine metabolism. In addition to hepatic and renal involvement, cardiomyopathy is an important clinical manifestation.
  
  
  OBJECTIVE
  To evaluate the incidence and outcome of cardiomyopathy in TTI.
  
  
  METHODS
  A retrospective study was performed of 20 consecutive children with TTI (12 male, 8 female) referred to a single centre between 1986 and 2002. All were initially treated with standard dietary therapy and, since 1992, with nitisinone. The indications for orthotopic liver transplantation (LT) changed during the study. Serial echocardiography was undertaken in all subjects.
  
  
  RESULTS
  9/20 (45%) children had an acute hepatic presentation. Five (25%) received dietary treatment followed by LT, and 14 (70%) were treated with nitisinone at presentation. 6/20 (30%) had cardiomyopathy at initial assessment, with interventricular septal hypertrophy being the commonest finding (5/6). Cardiomyopathy was significantly less common in those treated initially with nitisinone. After a median follow-up of 3.6 (0.45-13.5) years, 5/6 (83%) had complete resolution of cardiomyopathy and 1/6 showed significant improvement. No child with a normal initial echocardiography subsequently developed cardiomyopathy.
  
  
  CONCLUSIONS
  Cardiomyopathy is a common manifestation of TTI and it has a favourable long-term outcome. Children initially treated with nitisinone are less likely to develop this complication.
authors.affiliation: Liver Unit, Department of Cardiology, Children's Hospital NHS Trust, Birmingham, UK.
authors.forename: N
authors.initials: N
authors.lastname: Arora
authors.forename: O
authors.initials: O
authors.lastname: Stumper
authors.forename: J
authors.initials: J
authors.lastname: Wright
authors.forename: D A
authors.initials: DA
authors.lastname: Kelly
authors.forename: P J
authors.initials: PJ
authors.lastname: McKiernan
mesh_terms: D000293:Adolescent; D009202:Cardiomyopathies / Q000150:complications* / Q000188:drug therapy; D002648:Child; D002675:Child, Preschool; D003512:Cyclohexanones / Q000627:therapeutic use; D004452:Echocardiography; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009579:Nitrobenzoates / Q000627:therapeutic use; D012189:Retrospective Studies; D016896:Treatment Outcome; D020176:Tyrosinemias / Q000150:complications* / Q000178:diet therapy*
chemical_list: D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; C077073:nitisinone