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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

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Grassi, Marcilia S. [1] ; Jacob, Cristina M. A. [1] ; Kulikowski, Leslie D. [2] ; Pastorino, Antonio C. [1] ; Dutra, Roberta L. [2] ; Miura, Nana [3] ; Jatene, Marcelo B. [3] ; Pegler, Stephanie P. [1] ; Kim, Chong A. [1] ; Carneiro-Sampaio, Magda [1]
Total Authors: 10
[1] Univ Sao Paulo, Fac Med, Inst Crianca HC FMUSP, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Dept Patol, Sao Paulo - Brazil
[3] Univ Sao Paulo, Fac Med, Inst Coracao HC FMUSP, Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: Arquivos Brasileiros de Cardiologia; v. 103, n. 5, p. 382-390, NOV 2014.
Web of Science Citations: 5

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. (AU)

FAPESP's process: 08/58238-4 - Autoimmunity in children: investigation of the molecular and cellular bases of early onset of autoimmunity
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Research Projects - Thematic Grants
FAPESP's process: 09/53105-9 - Application of molecular cytogenetic in the diagnosis of patients with congenital anomalies for the reduction of infant mortality
Grantee:Leslie Domenici Kulikowski
Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)
FAPESP's process: 09/53864-7 - Flow cytometry for the Children’s Hospital and the Institute for Treatment of Childhood Cancer at the University of São Paulo School of Medicine (FM USP)
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Multi-user Equipment Program