Revista Paulista de Pediatria
versão impressa ISSN 0103-0582
ROSA, Rafael Fabiano M.; ZEN, Paulo Ricardo G.; GRAZIADIO, Carla e PASKULIN, Giorgio Adriano. 22q11.2 deletion syndrome and congenital heart defects. Rev. paul. pediatr. [online]. 2011, vol.29, n.2, pp. 251-260. ISSN 0103-0582. http://dx.doi.org/10.1590/S0103-05822011000200018.
OBJECTIVE: To review clinical, etiological and diagnostic characteristics of the 22q11 deletion syndrome and its as-sociation with congenital heart defects. DATA SOURCES: Medline, Lilacs and SciELO databases were searched from 1980 to 2009 using specific descrip-tors as "22q11", "DiGeorge syndrome", "velocardiofacial syndrome", "congenital heart defects" and "cardiovascular malformations". DATA SYNTHESIS: Heart malformations are the most fre-quent congenital defects at birth and represent an important Public Health problem. The 22q11 deletion syndrome, also called DiGeorge syndrome, velocardiofacial syndrome and CATCH22, stands out as one of the main known causes of congenital heart defects. This is an autosomal dominant genetic disease characterized by a highly variable phenotype, which renders its difficult clinical identification. In addition, the majority of the patients present a microdeletion identified mainly by molecular cytogenetic techniques as fluorescent in situ hybridization, which are rarely available in Brazil. Similarly to other syndromes, 22q11 deletion syndrome is associated to some specific heart defects, espe-cially conotruncal. It is still not clear which patients with congenital heart defect should be screened for 22q11 dele-tion syndrome. CONCLUSIONS: Cardiologists and cardiac surgeons, particu-larly the pediatric ones, must be aware about the features and health care related to 22q11 deletion syndrome. Subjects with the syndrome very often present abnormalities of mul-tiple systems, that could result in difficulties and complica-tions during their clinical and surgical course.
Palavras-chave : DiGeorge syndrome; in situ hybridization; fluorescence; heart defects, congenital; human chromosome, pair 22.