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. 2022 Dec 10;13(12):2334.
doi: 10.3390/genes13122334.

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study

Carolina Putotto  1 , Federica Pulvirenti  2 , Flaminia Pugnaloni  1   3 , Ina Isufi  1 , Marta Unolt  1   4 , Silvia Anaclerio  1 , Viviana Caputo  5 , Laura Bernardini  6 , Elisa Messina  1 , Corrado Moretti  1 , Luigi Tarani  1 , Bruno Marino  1 , Paolo Versacci  1
Affiliations

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study

Carolina Putotto et al. Genes (Basel). .

Abstract

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; p = 0.023) and inversely related to BMI (OR 0.86, 95% CI 0.77-0.97; p = 0.011). A significant increase in AR diameter's absolute value (p = 0.001) over time has been detected.

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.

Keywords: 22q11.2 deletion syndrome; aortic root dilation; clinical risk factors; longitudinal course; periodic cardiac evaluation; skeletal and connective tissue disorders.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Longitudinal course of Z-score (panel A), absolute values of AR diameter (panel B) and changes in BMI (panel C) over the time of follow-up. The two-way ANOVA test was used to evaluate changes in AR and BMI over time (reported as p values). Wilcoxon matched pair signed-rank test was used to compare the first and second echocardiograms. Significant p values are shown as ** (p < 0.01). AR: aortic root, ns: not significant, BMI: body mass index.
See this image and copyright information in PMC

References

    1. McDonald-McGinn D.M., Sullivan K.E., Marino B., Philip N., Swillen A., Vorstman J.A.S., Zackai E.H., Emanuel B.S., Vermeesch J.R., Morrow B.E., et al. 22q11.2 Deletion Syndrome. Nat. Rev. Dis. Prim. 2015;1:15071. doi: 10.1038/nrdp.2015.71. - DOI - PMC - PubMed
    1. McDonald-McGinn D.M., LaRossa D., Goldmuntz E., Sullivan K., Eicher P., Gerdes M., Moss E., Wang P., Solot C., Schultz P., et al. The 22q11.2 Deletion: Screening, Diagnostic Workup, and Outcome of Results; Report on 181 Patients. Genet. Test. 1997;1:99–108. doi: 10.1089/gte.1997.1.99. - DOI - PubMed
    1. Marino B., Digilio M.C., Toscano A., Anaclerio S., Giannotti A., Feltri C., de Ioris M.A., Angioni A., Dallapiccola B. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet. Med. 2001;3:45–48. doi: 10.1097/00125817-200101000-00010. - DOI - PubMed
    1. Momma K. Cardiovascular Anomalies Associated with Chromosome 22q11.2 Deletion Syndrome. Am. J. Cardiol. 2010;105:1617–1624. doi: 10.1016/j.amjcard.2010.01.333. - DOI - PubMed
    1. McElhinney D.B., Clark B.J., Weinberg P.M., Kenton M.L., McDonald-McGinn D., Driscoll D.A., Zackai E.H., Goldmuntz E. Association of Chromosome 22q11 Deletion with Isolated Anomalies of Aortic Arch Laterality and Branching. J. Am. Coll. Cardiol. 2001;37:2114–2119. doi: 10.1016/S0735-1097(01)01286-4. - DOI - PubMed

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