Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease

International Journal of Cardiology
Wai Lun Alan FungAnne S Bassett

Abstract

22q11.2 Deletion Syndrome (22q11.2DS) is an important genetic syndrome to cardiologists yet remains under-recognized in adults. There is no evidence-based guideline for genetic testing referrals. Feasibility issues in many jurisdictions preclude testing for 22q11.2 deletions in every congenital cardiac patient. We aimed to determine an optimal combination of extracardiac features that could be clinically helpful in identifying adults with tetralogy of Fallot (TOF) and related conotruncal anomalies at highest risk for 22q11.2DS. Adults (n=103) at a congenital cardiac clinic (86 with TOF) had a brief clinical screening assessment and genetic testing for 22q11.2 deletions using standard fluorescence in-situ hybridization; 31 had a 22q11.2 deletion. Discriminant ability (DA), defined as (sensitivity+specificity)/2, was used to measure performance of 18 (17 clinical and one demographic) features in predicting 22q11.2DS (DA>80%=a good screening test). Combining two features was required for a good test: a global impression of 22q11.2DS dysmorphic facies, with either learning difficulties (DA=82.4%) or voice abnormalities such as hypernasality (DA=81.6%). A four-feature combination (suggestive dysmorphic facies, voice abnormalities, l...Continue Reading

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Citations

Sep 29, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alessia DolcettiAnne S Bassett
Jun 30, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nancy J ButcherAnne S Bassett
Feb 28, 2009·Journal of Medical Genetics·A S BassettC Silversides
Dec 21, 2010·American Heart Journal·Sara PiranCandice K Silversides
Oct 23, 2010·European Journal of Medical Genetics·Peter AgergaardCharlotte Olesen
Jul 6, 2010·International Journal of Cardiology·Gregory CostainAnne S Bassett
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Dec 15, 2015·International Journal of Cardiology·Gregory CostainAnne S Bassett
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Dec 23, 2011·American Journal of Medical Genetics. Part a·Peter AgergaardKarina Meden Sørensen
Apr 17, 2014·Clinical Endocrinology·Evelyn Ning Man CheungAnne S Bassett
Oct 31, 2012·Journal of Intellectual Disability Research : JIDR·D J KarasA S Bassett
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