title: 22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot.
abstract: BACKGROUND
  Aortic root dilation has been observed in some patients with tetralogy of Fallot. This study examines whether 22q11.2 deletion is a risk factor for aortic root dilation in tetralogy of Fallot.
  
  
  METHODS
  Patients with tetralogy of Fallot, in the age group of 6-18 years, with defined deletion status and echocardiograms (2003-2009) were identified from research databases. The diameter at the aortic annulus, sinus, and sinotubular junction was measured and analysed as Z-scores. Variables were examined in univariate and multivariate regression analysis.
  
  
  RESULTS
  Of 171 patients, 66% were male, 16% had 22q11.2 deletion, 40% had an aortic arch anomaly, and 11% had both a 22q11.2 deletion and aortic arch anomaly. Echocardiograms were performed at a mean age of 12 + 3 years. More patients with 22q11.2 deletion had Z-scores >3 at the sinus diameter (45% versus 35%, p = 0.02). In the multivariate analysis, the combination of 22q11.2 deletion and aortic arch anomalies was associated with both aortic annular dilation (p = 0.006) and aortic sinus dilation (p = 0.05). In the subset with pulmonary valve atresia, similar findings were observed at the aortic annulus (Z-score of 4.6 versus 2.2, p = 0.05) and the sinuses (Z-score of 4.4 versus 2.7, p = 0.06). Male sex (p < 0.03) and pulmonary atresia (p < 0.006) were additional risk factors for dilation at the annulus and sinuses.
  
  
  CONCLUSIONS
  Children with tetralogy of Fallot with 22q11.2 deletion and aortic arch anomalies have increased aortic annular and aortic sinus dilation. Further longitudinal study is needed to assess whether both features are associated with progressive aortic root dilation.
authors.affiliation: 1 Division of Cardiology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, United States of America.
authors.forename: Anitha S
authors.initials: AS
authors.lastname: John
authors.affiliation: 2 Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
authors.forename: Jack
authors.initials: J
authors.lastname: Rychik
authors.affiliation: 1 Division of Cardiology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, United States of America.
authors.forename: Munziba
authors.initials: M
authors.lastname: Khan
authors.affiliation: 3 Division of Biostatistics, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
authors.forename: Wei
authors.initials: W
authors.lastname: Yang
authors.affiliation: 2 Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Goldmuntz
mesh_terms: D000293:Adolescent; D001011:Aorta / Q000000981:diagnostic imaging*; D001013:Aorta, Thoracic / Q000002:abnormalities*; D001018:Aortic Diseases / Q000150:complications / Q000000981:diagnostic imaging*; D002648:Child; D015331:Cohort Studies; D004062:DiGeorge Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D004108:Dilatation, Pathologic / Q000150:complications / Q000000981:diagnostic imaging; D004452:Echocardiography; D005260:Female; D006801:Humans; D008297:Male; D015999:Multivariate Analysis; D018633:Pulmonary Atresia / Q000150:complications / Q000000981:diagnostic imaging; D012189:Retrospective Studies; D012737:Sex Factors; D013771:Tetralogy of Fallot / Q000150:complications / Q000000981:diagnostic imaging*