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

Detalhes bibliográficos
Autor(a) principal: Grassi,Marcília S.
Data de Publicação: 2014
Outros Autores: 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
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos Brasileiros de Cardiologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004
Resumo: 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.
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spelling Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 DeletionDiGeorge SyndrmeCrromosome DelectionHeart DefectsCongenitalHypocalcemiaChromosomesHuman 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. Sociedade Brasileira de Cardiologia - SBC2014-11-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004Arquivos Brasileiros de Cardiologia v.103 n.5 2014reponame:Arquivos Brasileiros de Cardiologia (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.5935/abc.20140145info:eu-repo/semantics/openAccessGrassi,Marcília S.Jacob,Cristina M. A.Kulikowski,Leslie D.Pastorino,Antonio C.Dutra,Roberta L.Miura,NanaJatene,Marcelo B.Pegler,Stephanie P.Kim,Chong A.Carneiro-Sampaio,Magdaeng2014-12-05T00:00:00Zoai:scielo:S0066-782X2014002300004Revistahttp://www.arquivosonline.com.br/https://old.scielo.br/oai/scielo-oai.php||arquivos@cardiol.br1678-41700066-782Xopendoar:2014-12-05T00:00Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)false
dc.title.none.fl_str_mv Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
title Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
spellingShingle Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
Grassi,Marcília S.
DiGeorge Syndrme
Crromosome Delection
Heart Defects
Congenital
Hypocalcemia
Chromosomes
Human
title_short Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
title_full Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
title_fullStr Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
title_full_unstemmed Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
title_sort Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
author Grassi,Marcília S.
author_facet Grassi,Marcília 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
author_role author
author2 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
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Grassi,Marcília 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
dc.subject.por.fl_str_mv DiGeorge Syndrme
Crromosome Delection
Heart Defects
Congenital
Hypocalcemia
Chromosomes
Human
topic DiGeorge Syndrme
Crromosome Delection
Heart Defects
Congenital
Hypocalcemia
Chromosomes
Human
description 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.
publishDate 2014
dc.date.none.fl_str_mv 2014-11-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/abc.20140145
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia - SBC
publisher.none.fl_str_mv Sociedade Brasileira de Cardiologia - SBC
dc.source.none.fl_str_mv Arquivos Brasileiros de Cardiologia v.103 n.5 2014
reponame:Arquivos Brasileiros de Cardiologia (Online)
instname:Sociedade Brasileira de Cardiologia (SBC)
instacron:SBC
instname_str Sociedade Brasileira de Cardiologia (SBC)
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reponame_str Arquivos Brasileiros de Cardiologia (Online)
collection Arquivos Brasileiros de Cardiologia (Online)
repository.name.fl_str_mv Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)
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