Vera Lúcia Berenstein Pereira

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

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.

Oculo-auriculo-vertebral spectrum and cardiac malformations

OBJECTIVE To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in an effort to correlate presence of these defects with other clinical characteristics and evolution. METHODS The sample comprised 33 subjects, all attended in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female and their ages ranged from 1 day to 17 years. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. RESULTS Cardiac abnormalities were observed in 13 patients (39.4%). Of these defects, 5 (38.5%) were conotruncal, tetralogy of Fallot being the main malformation (n=2). Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them, bearers of congenital heart defects. CONCLUSION Cardiac malformations, mainly conotruncal and septal defects, are frequent among patients with OAVS. Frequency found in our study was statistically similar to the majority of works described in literature where it ranged from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

22q11.2 deletion syndrome: importance of clinical evaluation and FISH analysis

OBJECTIVE The 22q11.2 deletion syndrome nowadays is considered one of the most often observed genetic diseases in humans. It is clinically characterized by a rather wide phenotypic spectrum, with more than 180 clinical features physical as well as behavioral, already described. However, none is pathognomonic or obligatory which makes diagnosis even more difficult. Thus, this study intended to determine the prevalence and clinical characteristics of patients with 22q11.2 microdeletion in a selected sample of subjects with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype. METHODS A selected sample of 30 patients with clinical suspicion of 22q11.2 deletion syndrome and normal karyotype was evaluated by application of a standard clinical protocol and cytogenetic analysis with fluorescent in situ hybridization. RESULTS 22q11.2 microdeletion was identified in 3 patients (10%), a prevalence similar to the majority of published studies, which ranged from 4 to 21%. The 22q11.2 deletion syndrome patients in this study were characterized by a variable phenotype and shared few clinical features, in agreement with the literature description. CONCLUSIONS These findings strengthen the idea that clinical diagnosis of 22q11.2 deletion syndrome is difficult due to the large phenotypic variability. Therefore a detailed clinical evaluation associated to a sensitive test such as fluorescent in situ hybridization analysis is crucial for the identification of these patients.

22q11.2 duplication and congenital heart defects

The 22q11.2 deletion syndrome (del22q11 syndrome) (OMIM #188400/ #192430), also known as Velocardiofacial syndrome and DiGeorge syndrome, is considered a very common genetic disease. With an estimated prevalence of 1:2,000-6,000 live births, this syndrome currently represents one of the main known causes of congenital cardiopathyRafael Fabiano Machado Rosa1,2, Paulo Ricardo Gazzola Zen1,2, Cláudia Pires Ricachinevsky2, Carlo Benatti Pilla2, Vera Lúcia Berenstein Pereira1, Tatiana Roman1, Marilela Varella-Garcia3, Giorgio Adriano Paskulin1,2 Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)1; Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)2, Porto Alegre, RS Brasil; University of Colorado Denver3, Aurora, Colorado EUA

Duplicación 22q11.2 y defectos cardíacos congénitos

The 22q11.2 deletion syndrome (del22q11 syndrome) (OMIM #188400/ #192430), also known as Velocardiofacial syndrome and DiGeorge syndrome, is considered a very common genetic disease. With an estimated prevalence of 1:2,000-6,000 live births, this syndrome currently represents one of the main known causes of congenital cardiopathyRafael Fabiano Machado Rosa1,2, Paulo Ricardo Gazzola Zen1,2, Cláudia Pires Ricachinevsky2, Carlo Benatti Pilla2, Vera Lúcia Berenstein Pereira1, Tatiana Roman1, Marilela Varella-Garcia3, Giorgio Adriano Paskulin1,2 Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)1; Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)2, Porto Alegre, RS Brasil; University of Colorado Denver3, Aurora, Colorado EUA

Duplicação 22q11.2 e defeitos cardíacos congênitos

The 22q11.2 deletion syndrome (del22q11 syndrome) (OMIM #188400/ #192430), also known as Velocardiofacial syndrome and DiGeorge syndrome, is considered a very common genetic disease. With an estimated prevalence of 1:2,000-6,000 live births, this syndrome currently represents one of the main known causes of congenital cardiopathyRafael Fabiano Machado Rosa1,2, Paulo Ricardo Gazzola Zen1,2, Cláudia Pires Ricachinevsky2, Carlo Benatti Pilla2, Vera Lúcia Berenstein Pereira1, Tatiana Roman1, Marilela Varella-Garcia3, Giorgio Adriano Paskulin1,2 Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)1; Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)2, Porto Alegre, RS Brasil; University of Colorado Denver3, Aurora, Colorado EUA