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.

Objective. To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in order to correlate the 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 with ages ranging from 1 day to 17 years old. 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, 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 carriers of congenital heart defects. cOnclusiOn. Cardiac malformations, mainly of the conotruncal and septal types, are frequent among patients with OAVS. The frequency found in our study was statistically similar to the one found in the majority of works described in literature, which ranges 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.

ResumoObjetivO. A síndrome de deleção 22q11.2 é considerada hoje uma das doenças genéticas mais frequentes em humanos. Caracteriza-se clinicamente por um espectro fenotípico bastante amplo, com mais de 180 achados já descritos, tanto físicos como comportamentais. Contudo, nenhum deles é patognomônico ou mesmo obrigatório, o que acaba dificultando o diagnóstico. Assim, o objetivo do presente estudo foi determinar a prevalência e as características clínicas de pacientes com microdeleção 22q11.2 em uma amostra selecionada de indivíduos com suspeita clínica de síndrome de deleção 22q11.2 e cariótipo normal. MétOdOs. Uma amostra selecionada de 30 pacientes com suspeita clínica da síndrome de deleção 22q11.2 e cariótipo normal foi avaliada através da aplicação de um protocolo clínico padrão e análise citogenética por meio da técnica de hibridização in situ fluorescente. ResultadOs. A microdeleção 22q11.2 foi identificada em três pacientes (10%), sendo esta prevalência similar a da maioria dos estudos descritos na literatura que oscila de 4% a 21%. Os pacientes com síndrome de deleção 22q11.2 do nosso trabalho se caracterizaram por um fenótipo variável, com poucos achados clínicos similares, o que foi concordante com a descrição da literatura. COnClusãO. Nossos achados reforçam a ideia de que o diagnóstico clínico da síndrome de deleção 22q11.2 é difícil devido à sua grande variabilidade fenotípica. Assim, uma avaliação clínica detalhada associada a um teste sensível como a hibridização in situ fluorescente, são fundamentais para a identificação destes pacientes. Unitermos

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