https://observatorio.fm.usp.br/handle/OPI/9039
Title: | Cardiopatias Congênitas como um Sinal de Alerta para o Diagnóstico da Deleção do 22q11.2 |
Authors: | GRASSI, Marcilia S.; JACOB, Cristina M. A.; KULIKOWSKI, Leslie D.; PASTORINO, Antonio C.; DUTRA, Roberta L.; MIURA, Nana; JATENE, Marcelo B.; PEGLER, Stephanie P.; KIM, Chong A.; CARNEIRO-SAMPAIO, Magda |
Citation: | ARQUIVOS BRASILEIROS DE CARDIOLOGIA, v.103, n.5, p.382-390, 2014 |
Abstract: | Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M: F = 1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCP Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - HC/InCor Artigos e Materiais de Revistas Científicas - LIM/03 Artigos e Materiais de Revistas Científicas - LIM/11 Artigos e Materiais de Revistas Científicas - LIM/36 Artigos e Materiais de Revistas Científicas - ODS/03 |
File | Description | Size | Format | |
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art_GRASSI_Congenital_Heart_Disease_as_a_Warning_Sign_for_2014_por.PDF | publishedVersion (Portuguese) | 845.91 kB | Adobe PDF | View/Open |
art_GRASSI_Congenital_Heart_Disease_as_a_Warning_Sign_for_2014_eng.PDF | publishedVersion (English) | 819.3 kB | Adobe PDF | View/Open |
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