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J Pediatr Genet 2023; 12(02): 113-122
DOI: 10.1055/s-0043-1763258
Review Article

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis

Bruna Lixinski Diniz 
1   Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
,
Desirée Deconte 
1   Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
,
Kerolainy Alves Gadelha 
2   Underdegree Program in Biomedicine, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
,
Andressa Barreto Glaeser 
1   Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
,
Bruna Baierle Guaraná
1   Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
3   Department of Internal Medicine, Clinical Genetics Service, Federal University of Health Sciences of Porto Alegre (UFCSPA) and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil
,
Andreza Ávila de Moura
2   Underdegree Program in Biomedicine, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
,
Rafael Fabiano Machado Rosa
1   Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
3   Department of Internal Medicine, Clinical Genetics Service, Federal University of Health Sciences of Porto Alegre (UFCSPA) and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil
,
Paulo Ricardo Gazzola Zen 
1   Graduate Program in Pathology, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
3   Department of Internal Medicine, Clinical Genetics Service, Federal University of Health Sciences of Porto Alegre (UFCSPA) and Irmandade da Santa Casa de Misericórdia de Porto Alegre (ISCMPA), Porto Alegre, RS, Brazil
› Author Affiliations Funding This work was funding by Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS,17/2551-0001063-9), Programa de Extensão Universitária do Ministério da Educação e Cultura (PROEXT), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior – Brasil (CAPES) – Finance Code 001, and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) (302931/2019-8).
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Abstract

Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigation, especially in individuals with a mild phenotype. Nowadays, different cytogenetic methodologies have emerged and are used routinely in research laboratories. Hence, choosing an efficient technology and providing an accurate interpretation of clinical findings is crucial for 22q11.2DS patient's diagnosis.

This systematic review provides an update of the last 20 years of research on 22q11.2DS patients with CHD and the investigation process behind each diagnosis. A search was performed in PubMed, Embase, and LILACS using all entry terms to DiGeorge syndrome, CHDs, and cytogenetic analysis. After screening, 60 papers were eligible for review. We present a new insight of ventricular septal defect as a possible pivotal cardiac finding in individuals with 22q11.2DS. Also, we describe molecular technologies and cardiac evaluation as valuable tools in order to guide researchers in future investigations.

Keywords

22q11.2 deletion syndrome - congenital heart defects - DiGeorge syndrome - ventricular heart septal defects

Ethical Approval

This study did not require ethical approval.


Supplementary Material



Publication History

Received: 30 April 2021

Accepted: 16 January 2023

Article published online:
17 February 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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