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

• Published in: Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2023-06, Vol.12 (2), p.113-122
• Main Authors: Diniz, Bruna Lixinski, Deconte, Desirée, Gadelha, Kerolainy Alves, Glaeser, Andressa Barreto, Guaraná, Bruna Baierle, de Moura, Andreza Ávila, Rosa, Rafael Fabiano Machado, Zen, Paulo Ricardo Gazzola
• Format: Article
• Language: English
• Subjects: Review Article
• ISSN: 2146-4596; 2146-460X
• DOI: 10.1055/s-0043-1763258

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.