title: Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry.
abstract: BACKGROUND
  Restrictive cardiomyopathy (RCM) has been associated with poor prognosis in childhood. The goal of the present analysis was to use the Pediatric Cardiomyopathy Registry to analyze outcomes of childhood RCM, with a focus on the impact of phenotype comparing pure RCM with cases that have additional features of hypertrophic cardiomyopathy (HCM).
  
  
  RESULTS
  We analyzed the Pediatric Cardiomyopathy Registry database (1990-2008; N=3375) for cases of RCM. Cases were defined as pure when RCM was the only assigned diagnosis. Additional documentation of HCM at any time was used as the criterion for RCM/HCM phenotype. RCM accounted for 4.5% of cases of cardiomyopathy. In 101 (66%), pure RCM was diagnosed; in 51 (34%), there was a mixed phenotype. Age at diagnosis was not different between groups, but 10% of the pure RCM group was diagnosed in infancy versus 24% of the RCM/HCM group. Freedom from death was comparable between groups with 1-, 2-, and 5-year survival of RCM 82%, 80%, and 68% versus RCM/HCM 77%, 74%, and 68%. Transplant-free survival was 48%, 34%, and 22% and 65%, 53%, and 43%, respectively (P=0.011). Independent risk factors at diagnosis for lower transplant-free survival were heart failure (hazard ratio 2.20, P=0.005), lower fractional shortening z score (hazard ratio 1.12 per 1 SD decrease in z score, P=0.014), and higher posterior wall thickness in the RCM/HCM group only (hazard ratio 1.32, P<0.001). Overall, outcomes were worse than for all other forms of cardiomyopathy.
  
  
  CONCLUSIONS
  Transplant-free survival is poor for RCM in childhood. Survival is independent of phenotype; however, the RCM/HCM phenotype has significantly better transplant-free survival.
  
  
  BACKGROUND
  URL: http://www.clinicaltrials.gov. Unique Identifier: NCT00005391.
authors: Division of Cardiology, Children's Hospital of Pittsburgh of UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. steve.webber@chp.edu
authors: Steven A
authors: SA
authors: Webber
authors: Steven E
authors: SE
authors: Lipshultz
authors: Lynn A
authors: LA
authors: Sleeper
authors: Minmin
authors: M
authors: Lu
authors: James D
authors: JD
authors: Wilkinson
authors: Linda J
authors: LJ
authors: Addonizio
authors: Charles E
authors: CE
authors: Canter
authors: Steven D
authors: SD
authors: Colan
authors: Melanie D
authors: MD
authors: Everitt
authors: John Lynn
authors: JL
authors: Jefferies
authors: Paul F
authors: PF
authors: Kantor
authors: Jacqueline M
authors: JM
authors: Lamour
authors: Renee
authors: R
authors: Margossian
authors: Elfriede
authors: E
authors: Pahl
authors: Paolo G
authors: PG
authors: Rusconi
authors: Jeffrey A
authors: JA
authors: Towbin
mesh_terms: D001145:Arrhythmias, Cardiac / Q000401:mortality; D002312:Cardiomyopathy, Hypertrophic / Q000401:mortality* / Q000503:physiopathology* / Q000601:surgery; D002313:Cardiomyopathy, Restrictive / Q000401:mortality* / Q000503:physiopathology* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D005343:Fibrinolytic Agents / Q000627:therapeutic use; D005500:Follow-Up Studies; D016027:Heart Transplantation / Q000401:mortality; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D016016:Proportional Hazards Models; D011446:Prospective Studies; D012042:Registries / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D012307:Risk Factors; D020521:Stroke / Q000188:drug therapy / Q000401:mortality
chemical_list: D005343:Fibrinolytic Agents