Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study.
22q11.2 deletion syndrome
aortic root dilation
clinical risk factors
longitudinal course
periodic cardiac evaluation
skeletal and connective tissue disorders
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
10 12 2022
10 12 2022
Historique:
received:
10
10
2022
revised:
04
12
2022
accepted:
05
12
2022
entrez:
23
12
2022
pubmed:
24
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
Aortic root dilation (ARD) has been described in 22q11.2DS, even without congenital heart disease (CHD). However, the clinical implications and longitudinal course are unclear. In this study, we evaluated aortic root (AR) dimensions in 22q112.DS adolescents/adults without major intracardiac CHDs, analyzed the progression over time and investigated correlations with extracardiac comorbidities. AR dimensions were evaluated in 74 patients, measuring the sinus of Valsalva (VS) and proximal ascending aorta (AA), using Z-score to define mild, moderate and severe degrees. Changes in AR dimensions during longitudinal echocardiographic follow-up were investigated. Phenotypic characteristics have been collected. Twenty-four patients (32.4%) showed ARD in terms of VS Z-score (2.43; IQR 2.08-3.01), eight (33.3%) of a moderate/severe degree. Thirteen (54.2%) had concomitant AAD (Z-score 2.34; IQR 1.60-2.85). The risk of ARD was significantly directly related to skeletal/connective tissue disorders (OR 12.82, 95% CI 1.43-115.31; Isolated ARD is common in 22q11.2DS. Although some clinical risk factors have been identified, pathogenetic mechanisms and risk of complications are undefined. Regular cardiac evaluations should be part of the 22q11.2DS follow-up, and also in non-CHDs patients, to improve long-term outcome.
Sections du résumé
BACKGROUND
Aortic root dilation (ARD) has been described in 22q11.2DS, even without congenital heart disease (CHD). However, the clinical implications and longitudinal course are unclear. In this study, we evaluated aortic root (AR) dimensions in 22q112.DS adolescents/adults without major intracardiac CHDs, analyzed the progression over time and investigated correlations with extracardiac comorbidities.
METHODS
AR dimensions were evaluated in 74 patients, measuring the sinus of Valsalva (VS) and proximal ascending aorta (AA), using Z-score to define mild, moderate and severe degrees. Changes in AR dimensions during longitudinal echocardiographic follow-up were investigated. Phenotypic characteristics have been collected.
RESULTS
Twenty-four patients (32.4%) showed ARD in terms of VS Z-score (2.43; IQR 2.08-3.01), eight (33.3%) of a moderate/severe degree. Thirteen (54.2%) had concomitant AAD (Z-score 2.34; IQR 1.60-2.85). The risk of ARD was significantly directly related to skeletal/connective tissue disorders (OR 12.82, 95% CI 1.43-115.31;
CONCLUSION
Isolated ARD is common in 22q11.2DS. Although some clinical risk factors have been identified, pathogenetic mechanisms and risk of complications are undefined. Regular cardiac evaluations should be part of the 22q11.2DS follow-up, and also in non-CHDs patients, to improve long-term outcome.
Identifiants
pubmed: 36553601
pii: genes13122334
doi: 10.3390/genes13122334
pmc: PMC9778342
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Nat Rev Dis Primers. 2015 Nov 19;1:15071
pubmed: 27189754
Pediatr Cardiol. 2021 Oct;42(7):1594-1600
pubmed: 34128123
Cytogenet Genome Res. 2015;146(2):89-99
pubmed: 26278718
Genet Test. 1997;1(2):99-108
pubmed: 10464633
Am J Med Genet A. 2022 Aug;188(8):2351-2359
pubmed: 35491976
Genet Med. 2001 Jan-Feb;3(1):45-8
pubmed: 11339377
Genet Med. 2015 Aug;17(8):599-609
pubmed: 25569435
Nat Med. 2003 Feb;9(2):173-82
pubmed: 12539040
Hum Mol Genet. 2019 Jul 15;28(14):2295-2308
pubmed: 31180501
J Am Soc Echocardiogr. 2015 Jan;28(1):1-39.e14
pubmed: 25559473
J Am Coll Cardiol. 2001 Jun 15;37(8):2114-9
pubmed: 11419896
Genet Med. 2014 Jan;16(1):92-100
pubmed: 23765049
Genet Med. 2008 Jul;10(7):469-94
pubmed: 18580689
Am J Med Genet A. 2009 May;149A(5):939-42
pubmed: 19353635
Genes (Basel). 2019 Aug 12;10(8):
pubmed: 31409039
BMJ Case Rep. 2015 Sep 21;2015:
pubmed: 26392444
Genet Med. 2020 Feb;22(2):245-257
pubmed: 31690835
Cardiol Young. 2014 Apr;24(2):303-10
pubmed: 23570688
J Am Coll Cardiol. 2009 Feb 10;53(6):461-7
pubmed: 19195601
Catheter Cardiovasc Interv. 2010 Aug 1;76(2):E43-86
pubmed: 20687249
Am J Cardiol. 2012 Oct 15;110(8):1189-94
pubmed: 22770936
Int J Pediatr Otorhinolaryngol. 2010 Jun;74(6):619-25
pubmed: 20363509
J Thorac Cardiovasc Surg. 2005 Oct;130(4):1130-6
pubmed: 16214530
Cardiovasc Diagn Ther. 2018 Dec;8(6):725-738
pubmed: 30740320
Anat Rec (Hoboken). 2020 Jun;303(6):1527-1542
pubmed: 30768852
Hypertension. 2001 May;37(5):1229-35
pubmed: 11358933
Am J Cardiol. 2010 Jun 1;105(11):1617-24
pubmed: 20494672
Eur Heart J. 2014 Nov 1;35(41):2873-926
pubmed: 25173340