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22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot

Published online by Cambridge University Press:  10 April 2013

Anitha S. John ,
Jack Rychik ,
Munziba Khan ,
Wei Yang  and
Elizabeth Goldmuntz
Anitha S. John
Affiliation:
Division of Cardiology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, United States of America Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
Jack Rychik
Affiliation:
Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
Munziba Khan
Affiliation:
Division of Cardiology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, United States of America
Wei Yang
Affiliation:
Division of Biostatistics, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
Elizabeth Goldmuntz*
Affiliation:
Division of Cardiology, The Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America
*
Correspondence to: Dr E. Goldmuntz, MD, Professor of Pediatrics, Children's Hospital of Philadelphia, Division of Cardiology, Abramson Research Center, 702A, 3615 Civic Center Boulevard, Philadelphia, PA 19104-4318, United States of America. Tel: 215 590 5820; Fax: 215 476 5700; E-mail: [email protected]
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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.

Keywords

22q11.2 deletion syndromeaortic root dilationtetralogy of Fallot
Type
Original Articles
Information
Cardiology in the Young , Volume 24 , Issue 2 , April 2014 , pp. 303 - 310
Copyright
Copyright © Cambridge University Press 2013 

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