title: Cardiac findings in Noonan syndrome on long-term follow-up.
abstract: OBJECTIVE
  Noonan syndrome (NS) is the second most common genetic syndrome associated with cardiac abnormalities, including, most notably, pulmonary stenosis (PS) and hypertrophic cardiomyopathy (HCM). Little is known about the natural history of heart disease in this unique subset of patients. We sought to contribute information on the natural history of NS by looking at how the cardiac disease progresses with time.
  
  
  METHODS
  This is a retrospective review of the medical records of patients with NS seen at our institution between 1963 and 2011.
  
  
  RESULTS
  Records were available for 113 patients. Average length of follow-up was 14.16 years (2 months to 44 years, median 12.5 years). Sixty-six percent (75/113) of our patients had PS; within this subset, 57% (43) were classified as mild, 9% (7) moderate, and 33% (25) severe. None of the cases of mild PS worsened with time. All of the severe cases had an intervention, as did some moderate cases. Fourteen percent (16/113) of our patients had HCM; 56% (9/16) were mild, diagnosed at an average age of 3.8 years. Seven of these were stable with time, while one did progress. Forty-four percent (7/16) of cases were classified as severe, diagnosed at an average age of 4.2 months, and all were managed medically, surgically, or both. Our cohort had seven deaths (ages 6 months and 6, 10, 20, 40, 49, and 50 years).
  
  
  CONCLUSIONS
  Mild PS in patients with NS is nonprogressive. Severe, and in some cases moderate, PS will invariably require a therapeutic intervention. It is uncommon for HCM to progress or have new onset beyond early childhood. Prognosis of heart disease in NS is influenced most by the findings on presentation.
authors.affiliation: Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Ken, USA.
authors.forename: John L
authors.initials: JL
authors.lastname: Colquitt
authors.forename: Jacqueline A
authors.initials: JA
authors.lastname: Noonan
mesh_terms: D000328:Adult; D000367:Age Factors; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D053208:Kaplan-Meier Estimate; D007629:Kentucky; D008297:Male; D008875:Middle Aged; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy; D010641:Phenotype; D011379:Prognosis; D011666:Pulmonary Valve Stenosis / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality / Q000628:therapy; D012189:Retrospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index; D013997:Time Factors; D055815:Young Adult
keywords: Hypertrophic Cardiomyopathy; Natural History; Noonan Syndrome; Pulmonary Stenosis