22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in Brazil

Abstract

The 22q11.2 deletion syndrome (22q11DS) is one of the most recognizable causes of congenital heart defects (CHDs), but the frequency varies in non-selected populations. The purpose of this study was to determine the incidence and clinical features of patients with CHD and 22q11DS admitted to a pediatric cardiology intensive care unit in Brazil. In a prospective study, we evaluated a consecutive series of 207 patients with a CHD following a clinical protocol and cytogenetic analysis by high resolution karyotype and fluorescent in situ hybridization (FISH). 22q11DS was identified in four patients (2%), a frequency similar to studies that evaluated subjects with major CHDs in other countries. Despite this similarity, we believe that the low rate of prenatal identification of CHDs and the limited access of these patients to appropriate diagnosis and care, which occur in our region, could have had an influence on this frequency. It is possible that 22q11DS patients with a severe CHD could have died before having a chance to access a tertiary hospital, leading to an underestimate of its frequency.

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita

“…The case cohort has been described in detail by Rosa et al 11 and included 164 consecutive patients with CHD hospitalized for the first time in the cardiac intensive care unit (ICU) of a pediatric hospital. In all patients, AUS, high resolution GTG-banding karyotype (550 bands) and fluorescence in situ hybridization (FISH) for 22q11 deletion syndrome were successfully performed.…”

Duplicação 22q11.2 e defeitos cardíacos congênitos

“…Cardiac defects, especially of conotruncal type, are frequently seen among patients with del22q11 syndrome. On the other hand, the syndrome is considered one of the most frequent known causes of congenital cardiopathy, with a frequency that ranges from 1-19% 1 . In the present study, this frequency was 2% and there were no cases of 22q11.2 duplication.…”

“…With an estimated prevalence of 1:2,000-6,000 live births, this syndrome currently represents one of the main known causes of congenital cardiopathy 1 . It is known that the region q11.2 of chromosome 22 presents a non-usual rearrangement, with regions of low-copy number repeats which, during meiosis, predispose to a pairing error between the chromosomes and, consequently, to an unequal crossing-over, which can lead to a deletion (del22q11) or a duplication of the q11.2 rgion [2][3][4] .…”

Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11

“…A deleção 22q11 possui grande associação com defeitos que envolvem as vias de saída do coração (conotruncais), como a interrupção do arco aórtico do tipo B, o truncus arteriosus, tetralogia de Fallot, atresia pulmonar, estenose pulmonar e arco aórtico à direita (MARINO; DIGILIO, 2000;HARRIS et al, 2003;ROSA et al, 2008;ROSA et al, 2011;FAHED et al, 2013;TREVISAN et al, 2014).…”

“…(RYAN et al, 1997;MATSUOKA et al, 1998;MCDONALD-MCGLIN et al, 1999;VANTRAPPEN et al, 1999;SHPRINTZEN, 2005). A cardiopatia congênita é encontrada em 75% a 80% dos individuos com a SD22q11 (YAMAGISHI et al, 2000;CUNEO, 2001;REISH et al, 2003;RUITER et al, 2003;BASHIR et al, 2008;ROSA et al, 2008;ZIOLKOWSKA et al, 2008;LEE et al, 2009;BALES;ZALESKI;MCPHERSON, 2010;VAN ENGELEN et al, 2010).…”