ArticleInternational journal of cardiology2008
Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.
Article in International journal of cardiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- 1q21.1 Microduplication expression in adults.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Pooled it
- Outcomes of Pregnancy in Patients With Prior Right Ventricular Outflow Interventions.Journal of the American Heart Association · 2019Article
- Article
- Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.Journal of genetic counseling · 2015Article
- Response to clozapine in a clinically identifiable subtype of schizophrenia.The British journal of psychiatry : the journal of mental science · 2015Observational
- Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Review
- 22q11 deletion syndrome: current perspective.The application of clinical genetics · 2015Review
- Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.Journal of neurodevelopmental disorders · 2015Article
- Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome.Clinical endocrinology · 2014Article
- Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome.Journal of intellectual disability research : JIDR · 2014Article
- Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.Human molecular genetics · 2013Article
- Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications.JAMA neurology · 2013Article
- Functional outcomes of adults with 22q11.2 deletion syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.Journal of intellectual disability research : JIDR · 2012Article
- Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.PLoS genetics · 2012Article
- 13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.International journal of cardiology · 2011Review
- Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.American heart journal · 2011Article
- Clinically detectable copy number variations in a Canadian catchment population of schizophrenia.Journal of psychiatric research · 2010Article
- Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome.The Canadian journal of cardiology · 2010Article
- Premature death in adults with 22q11.2 deletion syndrome.Journal of medical genetics · 2009Article
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Authors and funding
5 authors at 4 institutions in 3 countries.
Funding
Abstract
BACKGROUND AND
objectives22q11.2 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.
methodsAdults (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).
resultsCombining 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, learning difficulties and age <30 years) yielded maximal sensitivity (100%) and DA>85% at a cut-off of three features. Neither rates of right aortic arch or cardiac surgery differed between patients with and without 22q11.2 deletions.
conclusionsClinicians who consider as few as two extracardiac features readily detectable in a brief clinical encounter could help identify those with 22q11.2DS among adults with congenital heart disease. Diagnosis of 22q11.2DS is important for optimizing management of these complex patients.
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