Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , |
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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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 |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2014002300004 |
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 |
dc.format.none.fl_str_mv |
text/html |
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) |
instacron_str |
SBC |
institution |
SBC |
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) |
repository.mail.fl_str_mv |
||arquivos@cardiol.br |
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1752126564733026304 |