Cardiac evaluation of patients with 22q11.2 duplication syndrome.
aortic arch
aortic root
chromosome 22q11.2
congenital heart disease
duplication
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
24
07
2020
revised:
11
11
2020
accepted:
20
11
2020
pubmed:
29
12
2020
medline:
3
8
2021
entrez:
28
12
2020
Statut:
ppublish
Résumé
The 22q11.2 duplication syndrome (22q11.2DupS) is characterized by phenotypic heterogeneity, from seemingly asymptomatic to severely affected patients. Our study sought to detail the cardiac phenotype associated with 22q11.2DupS, the prevalence of aortic arch anomalies and aortic root dilation in 22q11.2DupS, and to assess how frequently new congenital heart disease (CHD) is diagnosed at outpatient cardiac evaluation following genetic diagnosis. In our cohort of 85 patients, 20.0% had CHD, with a wide range of phenotypes. Sixty-eight patients had complete cardiac evaluations detailing aortic arch sidedness and branching pattern, of which 5 (7.4%) had an aortic arch anomaly, all of whom had concurrent intracardiac CHD. Of 53 patients without CHD who had complete cardiac evaluations, only 3 (5.7%) had evidence of aortic root dilation. Of 46 patients who underwent outpatient cardiac evaluation following diagnosis of 22q11.2DupS, only one (2.2%) was found to have CHD, an isolated bicuspid aortic valve without stenosis. Therefore, the CHD phenotype in 22q11.2DupS, when present, is heterogeneous. Aortic arch anomalies are uncommon, and no patient in our cohort had one in isolation. Isolated aortic root dilation is also uncommon. Finally, outpatient cardiac evaluation following genetic diagnosis without previously known CHD infrequently identified minor cardiac malformations.
Identifiants
pubmed: 33369133
doi: 10.1002/ajmg.a.62032
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
753-758Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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