Clinical Features of 78 Adults With 22q11 Deletion Syndrome
Anne S. Bassett,Eva W.C. Chow,Eva W.C. Chow,Janice A. Husted,Janice A. Husted,Rosanna Weksberg,Oana Caluseriu,Gary Webb,Michael A. Gatzoulis +8 more
TLDR
The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms, including several of later onset in 22q11DS.Abstract:
22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and assessment. We systematically assessed 78 adults (36 M, 42 F; mean age 31.5, SD 10.5 years) with a 22q11.2 deletion ascertained through an adult congenital cardiac clinic (n = 35), psychiatric-related sources (n = 39), or as affected parents of subjects (n = 4). We recorded the lifetime prevalence of features requiring attention, with 95% confidence intervals (CI) not overlapping zero. Subtle learning difficulties, hypernasality and facial gestalt were not included. We investigated ascertainment effects using non-overlapping subgroups ascertained with tetralogy of Fallot (n = 31) or schizophrenia (n = 31). Forty-three features met inclusion criteria and were present in 5% or more patients, including several of later onset (e.g., hypothyroidism, cholelithiasis). Number of features per patient (median 9, range 3-22) correlated with hospitalizations (P = 0.0002) and, when congenital features were excluded, with age (P = 0.02). Adjusting for ascertainment, 25.8% (95% CI, 9.5-42.1%) of patients had cardiac anomalies and 22.6% (95% CI, 7.0-38.2%) had schizophrenia. Ascertainment subgroups were otherwise similar in median number and prevalence of features. Non-characteristic features are common in 22q11DS. Adjusting for ascertainment effects is important. Many treatable conditions may be anticipated and features may accumulate over time. The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms.read more
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ESC Guidelines for the management of grown-up congenital heart disease (new version 2010).
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22q11.2 deletion syndrome
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TL;DR: The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease as mentioned in this paper.
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2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Karen K. Stout,Curt J. Daniels,Jamil Aboulhosn,Biykem Bozkurt,Craig S. Broberg,Jack M. Colman,Stephen R. Crumb,Joseph A. Dearani,Stephanie Fuller,Michelle Gurvitz,Paul Khairy,Michael J. Landzberg,Arwa Saidi,Anne Marie Valente,George F. Van Hare +14 more
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