IJCS | Volume 33, Nº4, July and August 2020

427 1. Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E., et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the american heart association congenital cardiac defects committee, council on cardiovascular disease in the young: endorsed by the american academy of pediatrics. Circulation. 2007;115(23):3015-38. 2. WonkamA, Toko R, CheloD, Tekendo-NgongangC, Kingue S, Dahoun S. The 22q11.2 Deletion Syndrome in Congenital Heart Defects: Prevalence of Microdeletion Syndrome in Cameroon. Glob Heart. 2017; 12(2):115-20. 3. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998; 32(2):492-8. 4. Fernández L, Lapunzina P, Pajares IL, PalomaresM, Martínez I, Fernández B, et al. Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion. Am J Med Genet A. 2008;146A(9):1134-41. 5. Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008;14(1):3-10. 6. Devriendt K, Fryns J P, Mortier G, van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998;35(9):789-90. 7. Ganji H, Salehi M, Sedghi M, Abdali H, Nouri N, Sadri L, et al. Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects. Heart Asia. 2013; 5(1):200–2. 8. Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A, Butler MG, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009;124(2):113-20. 9. Fernández L1, Lapunzina P, Pajares IL, Criado GR, García-Guereta L, Pérez J,et al. Higher frequency of uncommon 1.5-2 Mb deletions References Santos et al. Congenial heart disease and 22q11 deletion Int J Cardiovasc Sci. 2020; 33(4):423-428 Case Report this intrafamilial phenotype variability may be related to an unknown molecular mechanism or stochastic factors cannot be denied. 19 Even though the 22q11DS is considered a relatively common chromosomal abnormality, it is still an underdiagnosed condition in the general population, even more so in developing countries and diverse populations, and in many cases the 22q11DS is secondary to a CHD. 20 In many countries, this conditions have not been systematically recognized by pediatricians, neonatologists and cardiologists, particularly in the first year of life. 21 The prevalence of 22q11.2DS in patients with CHD has been estimated in attempt to establish a screening for this condition in CHD patients, with or without other features of the syndrome.2,13 In the present study, we investigated three probands that presented CHDs andwe identified some of the clinical signs in the mothers, which led us to confirm the presence of 22q11 familial deletions. The 22q11DS is a constitutional disease with a broad spectrum of phenotypes. Thus, if a child is initially evaluated for CHD, it is probable that other clinical signs will appear throughout the course of the disease. Therefore, the early diagnosis of the syndrome allows a better prognosis and treatment of these patients. It is of note, however, that the presence of microdeletion does not imply the occurrence of postoperative complications. In the presence of a few or even unique features, as in CHD, within the spectrum of some known syndromes, a familial examination could provide definitive clues for a diagnosis, as well as to prevention and genetic counseling of patients. Author contributions Conception and design of the research: Santos MVPF, Ribeiro-Bicudo LA. Acquisition of data: Santos MVPF, Gamba BF, Empke SLL, Alves CC. Analysis and interpretation of the data: Santos MVPF. Gamba BF. Writing of the manuscript : Santos MVPF, Gamba BF, Bérgamo NA. Critical revision of the manuscript for intellectual content: Ribeiro-Bicudo LA. Potential Conflict of Interest No potential conflict of interest relevant to this article was reported. Sources of Funding This study was funded by CAPES and FAPEG. Study Association This article is part of the thesis of master submitted by Bruno Faulin Gamba, from Universidade Federal de Goiás . Ethics approval and consent to participate This study was approved by the Ethics Committee of the CONEP under the protocol number 1.966.673. All the procedures in this study were in accordance with the 1975 Helsinki Declaration, updated in 2013. Informed consent was obtained from all participants included in the study.