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Review
. 2022 May 25;9(6):772.
doi: 10.3390/children9060772.

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects

Carolina Putotto  1 , Flaminia Pugnaloni  1 , Marta Unolt  1   2 , Stella Maiolo  1   2 , Matteo Trezzi  2 , Maria Cristina Digilio  3 , Annapaola Cirillo  4 , Giuseppe Limongelli  5 , Bruno Marino  1 , Giulio Calcagni  2 , Paolo Versacci  1
Affiliations
Review

22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart Defects

Carolina Putotto et al. Children (Basel). .

Abstract

Congenital heart diseases represent one of the hallmarks of 22q11.2 deletion syndrome. In particular, conotruncal heart defects are the most frequent cardiac malformations and are often associated with other specific additional cardiovascular anomalies. These findings, together with extracardiac manifestations, may affect perioperative management and influence clinical and surgical outcome. Over the past decades, advances in genetic and clinical diagnosis and surgical treatment have led to increased survival of these patients and to progressive improvements in postoperative outcome. Several studies have investigated long-term follow-up and results of cardiac surgery in this syndrome. The aim of our review is to examine the current literature data regarding cardiac outcome and surgical prognosis of patients with 22q11.2 deletion syndrome. We thoroughly evaluate the most frequent conotruncal heart defects associated with this syndrome, such as tetralogy of Fallot, pulmonary atresia with major aortopulmonary collateral arteries, aortic arch interruption, and truncus arteriosus, highlighting the impact of genetic aspects, comorbidities, and anatomical features on cardiac surgical treatment.

Keywords: 22q11.2 deletion syndrome; cardiac surgical outcome; conotruncal heart defects; perioperative management.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Cardiovascular regions involved in congenital heart defects of 22q11.2DS patients. PDA: patent ductus arteriosus; VSD: ventricular septal defect.
See this image and copyright information in PMC

References

    1. Donofrio M.T., Moon-Grady A.J., Hornberger L.K., Copel J.A., Sklansky M.S., Abuhamad A., Cuneo B.F., Huhta J.C., Jonas R.A., Krishnan A., et al. Diagnosis and treatment of fetal cardiac disease: A scientific statement from the American Heart Association. Circulation. 2014;129:2183–2242. doi: 10.1161/01.cir.0000437597.44550.5d. - DOI - PubMed
    1. Jacobs J.P., He X., Mayer J.E., Jr., Austin E.H., 3rd, Quintessenza J.A., Karl T.R., Vricella L., Mavroudis C., O’Brien S.M., Pasquali S.K., et al. Mortality Trends in Pediatric and Congenital Heart Surgery: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann. Thorac. Surg. 2016;102:1345–1352. doi: 10.1016/j.athoracsur.2016.01.071. - DOI - PubMed
    1. Calcagni G., Pugnaloni F., Digilio M.C., Unolt M., Putotto C., Niceta M., Baban A., Piceci Sparascio F., Drago F., De Luca A., et al. Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights. Genes. 2021;12:1047. doi: 10.3390/genes12071047. - DOI - PMC - PubMed
    1. Marino B., Digilio M.C. Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype. Cardiovasc. Pathol. 2000;9:303–315. doi: 10.1016/S1054-8807(00)00050-8. - DOI - PubMed
    1. Formigari R., Michielon G., Digilio M.C., Piacentini G., Carotti A., Giardini A., Di Donato R.M., Marino B. Genetic syndromes and congenital heart defects: How is surgical management affected? Eur. J. Cardiothorac. Surg. 2009;35:606–614. doi: 10.1016/j.ejcts.2008.11.005. - DOI - PubMed

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