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CLINICAL RESEARCH: CONGENITAL HEART DISEASE

Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies

Luc M. Beauchesne, MD, FRCPC^*,*, Carole A. Warnes, MD, MRCP, FACC, Heidi M. Connolly, MD, FACC, Naser M. Ammash, MD, FACC, Martha Grogan, MD, FACC, Syed M. Jalal, PhD and Virginia V. Michels, MD

^* Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Canada
Division of Cardiovascular Diseases and Internal Medicine
Division of Laboratory Genetics
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota

Manuscript received June 21, 2004; revised manuscript received September 29, 2004, accepted October 26, 2004.

^* Reprint requests and correspondence: Dr. Luc M. Beauchesne, University of Ottawa Heart Institute, 40 Ruskin Street, Ottawa, Ontario, Canada K1Y 4W7 (Email: lbeauchesne{at}ottawaheart.ca).

OBJECTIVES: This study was designed to determine the prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies and to assess the clinician's ability to predict the presence or absence of 22q11.2 microdeletion on the basis of clinical features.

BACKGROUND: It is known that 22q11.2 microdeletion is a chromosomal anomaly with cardiac and extracardiac manifestations. The prevalence and manifestations in adults have not been well characterized.

METHODS: A total of 103 consecutive adults with either tetralogy of Fallot (TOF), pulmonary atresia/ventricular septal defect (PA/VSD), or truncus arteriosus (TA) were prospectively screened for 22q11.2 microdeletion using a fluorescence in situ hybridization (FISH) assay. Clinicians were asked to predict 22q11.2 microdeletion status on the basis of clinical features. A geneticist blinded to FISH assay results reviewed photographs of the patients for typical dysmorphic features of 22q11.2 microdeletion.

RESULTS: Six patients (prevalence 5.8%, 95% confidence interval 1.3 to 10.3) had 22q11.2 microdeletion (3 with TOF, 2 with PA/VSD, 1 with TA). In two of these patients, the clinician incorrectly predicted absence of the deletion. In three, typical dysmorphic features of 22q11.2 microdeletion were absent.

CONCLUSIONS: Our work showed that 22q11.2 microdeletion is under-recognized in adults with congenital heart disease. The absence of typical phenotypic features makes it difficult to correctly predict if the deletion is present. Screening for 22q11.2 microdeletion should be considered in adults with high-risk cardiac lesions, as it has important implications in reproductive counseling and surveillance for associated extracardiac manifestations.

Abbreviations and Acronyms   CI = confidence interval   FISH = fluorescence in situ hybridization   PA/VSD = pulmonary atresia/ventricular septal defect   TA = truncus arteriosus   TOF = tetralogy of Fallot

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