title: Clinical Stratification of Pediatric Patients with Idiopathic Thoracic Aortic Aneurysm.
abstract: OBJECTIVE
  To describe the global phenotypes of pediatric patients with thoracic aortic aneurysm (TAA) who do not have a clinical diagnosis of Marfan syndrome (MFS) or related connective tissue disorders. We hypothesized that the presence of noncardiovascular abnormalities correlate with TAA severity and that medical therapy reduces TAA progression.
  
  
  METHODS
  This is a retrospective case series of patients with TAA age ≤ 21 years evaluated in a cardiovascular genetics clinic. Patients meeting clinical criteria for MFS or related disorders were excluded. Repeated measures analyses of longitudinal echocardiographic measurements of the aorta were used to test associations between TAA severity and noncardiovascular phenotype and to assess the impact of medical therapy.
  
  
  RESULTS
  Sixty-nine patients with TAA at mean age 12.5 ± 5.3 years were included. Noncardiovascular abnormalities, including skeletal (65%) or craniofacial (54%) findings, were frequently observed. Increased rate of aortic root enlargement was associated with ocular (P = .002) and cutaneous (P = .003) abnormalities, and increased rate of ascending aorta enlargement was associated with craniofacial (P < .001) abnormalities. Beta blocker or angiotensin receptor blocker therapy (n = 41) was associated with reduction in the rate of aortic root growth (P = .018).
  
  
  CONCLUSIONS
  Children with TAA not satisfying diagnostic criteria for MFS or related disorders frequently have noncardiovascular findings, some of which are associated with TAA progression. Because therapy initiation may reduce risk of progression and long-term complications, comprehensive assessment of noncardiovascular findings may facilitate early risk stratification and improve outcomes.
authors: Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors: Benjamin J
authors: BJ
authors: Landis
authors: Department of Pediatrics and Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.
authors: Stephanie M
authors: SM
authors: Ware
authors: Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors: Jeanne
authors: J
authors: James
authors: Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors: Amy R
authors: AR
authors: Shikany
authors: Division Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
authors: Lisa J
authors: LJ
authors: Martin
authors: Division of Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address: bingrbh@icloud.com.
authors: Robert B
authors: RB
authors: Hinton
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D057911:Angiotensin Receptor Antagonists / Q000627:therapeutic use; D001011:Aorta / Q000002:abnormalities / Q000000981:diagnostic imaging; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000453:epidemiology*; D002648:Child; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D012189:Retrospective Studies; D012720:Severity of Illness Index; D014463:Ultrasonography
chemical_list: D000319:Adrenergic beta-Antagonists; D057911:Angiotensin Receptor Antagonists