Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome
Autor(a) principal: | |
---|---|
Data de Publicação: | 2020 |
Outros Autores: | , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | International Journal of Cardiovascular Sciences (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472020000400425 |
Resumo: | Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be noted that the 22q11 deletion was also found in a significant number of patients with isolated CHD. The 22q11DS phenotype may include cardiovascular anomalies, palatal abnormalities, nasal voice, immune deficiency, endocrine dysfunctions, a varying degree of cognitive deficits and intellectual disabilities, velopharyngeal insufficiency, and characteristic craniofacial dysmorphism. This condition affects about 1 in 4,000 live births, making 22q11DS the most common microdeletion syndrome in humans. Here we describe the cases of three children who were referred to the clinical hospital center with the diagnosis of CHD, but with no direct signs of 22q11DS. Investigation of familial data led us to suspect that the mothers could be carriers of 22q11DS. The multiplex ligation-dependent probe amplification (MLPA) testing confirmed that the patients and mothers exhibited 3 Mb 22q11 deletions, which justified the clinical signs in the mothers and the CHD in children. In the presence of a few characteristics that are common of a spectrum of some known syndromes, a familial examination can provide clues to a definitive diagnosis, as well as to the prevention of diseases and genetic counseling of these patients. |
id |
SBC-2_084034d4587035252e9919d51131a2da |
---|---|
oai_identifier_str |
oai:scielo:S2359-56472020000400425 |
network_acronym_str |
SBC-2 |
network_name_str |
International Journal of Cardiovascular Sciences (Online) |
repository_id_str |
|
spelling |
Congenital Heart Disease Revealing Familial 22q11 Deletion SyndromeCongenital Heart Disease/geneticsFace/abnormalities/ geneticsDiGeorge Syndrome/geneticsChromosomes, Human, Pair 22/geneticsChromosome DeletionAbstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be noted that the 22q11 deletion was also found in a significant number of patients with isolated CHD. The 22q11DS phenotype may include cardiovascular anomalies, palatal abnormalities, nasal voice, immune deficiency, endocrine dysfunctions, a varying degree of cognitive deficits and intellectual disabilities, velopharyngeal insufficiency, and characteristic craniofacial dysmorphism. This condition affects about 1 in 4,000 live births, making 22q11DS the most common microdeletion syndrome in humans. Here we describe the cases of three children who were referred to the clinical hospital center with the diagnosis of CHD, but with no direct signs of 22q11DS. Investigation of familial data led us to suspect that the mothers could be carriers of 22q11DS. The multiplex ligation-dependent probe amplification (MLPA) testing confirmed that the patients and mothers exhibited 3 Mb 22q11 deletions, which justified the clinical signs in the mothers and the CHD in children. In the presence of a few characteristics that are common of a spectrum of some known syndromes, a familial examination can provide clues to a definitive diagnosis, as well as to the prevention of diseases and genetic counseling of these patients.Sociedade Brasileira de Cardiologia2020-07-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472020000400425International Journal of Cardiovascular Sciences v.33 n.4 2020reponame:International Journal of Cardiovascular Sciences (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.36660/ijcs.20180060info:eu-repo/semantics/openAccessSantos,Marlene Viviane Pires FernandesGamba,Bruno FaulinEmpke,Stefany Lucas LopesAlves,Camila Cristina de OliveiraBérgamo,Nádia AparecidaRibeiro-Bicudo,Lucilene Arilhoeng2020-08-03T00:00:00Zoai:scielo:S2359-56472020000400425Revistahttp://publicacoes.cardiol.br/portal/ijcshttps://old.scielo.br/oai/scielo-oai.phptailanerodrigues@cardiol.br||revistaijcs@cardiol.br2359-56472359-4802opendoar:2020-08-03T00:00International Journal of Cardiovascular Sciences (Online) - Sociedade Brasileira de Cardiologia (SBC)false |
dc.title.none.fl_str_mv |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
title |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
spellingShingle |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome Santos,Marlene Viviane Pires Fernandes Congenital Heart Disease/genetics Face/abnormalities/ genetics DiGeorge Syndrome/genetics Chromosomes, Human, Pair 22/genetics Chromosome Deletion |
title_short |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
title_full |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
title_fullStr |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
title_full_unstemmed |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
title_sort |
Congenital Heart Disease Revealing Familial 22q11 Deletion Syndrome |
author |
Santos,Marlene Viviane Pires Fernandes |
author_facet |
Santos,Marlene Viviane Pires Fernandes Gamba,Bruno Faulin Empke,Stefany Lucas Lopes Alves,Camila Cristina de Oliveira Bérgamo,Nádia Aparecida Ribeiro-Bicudo,Lucilene Arilho |
author_role |
author |
author2 |
Gamba,Bruno Faulin Empke,Stefany Lucas Lopes Alves,Camila Cristina de Oliveira Bérgamo,Nádia Aparecida Ribeiro-Bicudo,Lucilene Arilho |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Santos,Marlene Viviane Pires Fernandes Gamba,Bruno Faulin Empke,Stefany Lucas Lopes Alves,Camila Cristina de Oliveira Bérgamo,Nádia Aparecida Ribeiro-Bicudo,Lucilene Arilho |
dc.subject.por.fl_str_mv |
Congenital Heart Disease/genetics Face/abnormalities/ genetics DiGeorge Syndrome/genetics Chromosomes, Human, Pair 22/genetics Chromosome Deletion |
topic |
Congenital Heart Disease/genetics Face/abnormalities/ genetics DiGeorge Syndrome/genetics Chromosomes, Human, Pair 22/genetics Chromosome Deletion |
description |
Abstract Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be noted that the 22q11 deletion was also found in a significant number of patients with isolated CHD. The 22q11DS phenotype may include cardiovascular anomalies, palatal abnormalities, nasal voice, immune deficiency, endocrine dysfunctions, a varying degree of cognitive deficits and intellectual disabilities, velopharyngeal insufficiency, and characteristic craniofacial dysmorphism. This condition affects about 1 in 4,000 live births, making 22q11DS the most common microdeletion syndrome in humans. Here we describe the cases of three children who were referred to the clinical hospital center with the diagnosis of CHD, but with no direct signs of 22q11DS. Investigation of familial data led us to suspect that the mothers could be carriers of 22q11DS. The multiplex ligation-dependent probe amplification (MLPA) testing confirmed that the patients and mothers exhibited 3 Mb 22q11 deletions, which justified the clinical signs in the mothers and the CHD in children. In the presence of a few characteristics that are common of a spectrum of some known syndromes, a familial examination can provide clues to a definitive diagnosis, as well as to the prevention of diseases and genetic counseling of these patients. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-07-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472020000400425 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472020000400425 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.36660/ijcs.20180060 |
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 |
publisher.none.fl_str_mv |
Sociedade Brasileira de Cardiologia |
dc.source.none.fl_str_mv |
International Journal of Cardiovascular Sciences v.33 n.4 2020 reponame:International Journal of Cardiovascular Sciences (Online) instname:Sociedade Brasileira de Cardiologia (SBC) instacron:SBC |
instname_str |
Sociedade Brasileira de Cardiologia (SBC) |
instacron_str |
SBC |
institution |
SBC |
reponame_str |
International Journal of Cardiovascular Sciences (Online) |
collection |
International Journal of Cardiovascular Sciences (Online) |
repository.name.fl_str_mv |
International Journal of Cardiovascular Sciences (Online) - Sociedade Brasileira de Cardiologia (SBC) |
repository.mail.fl_str_mv |
tailanerodrigues@cardiol.br||revistaijcs@cardiol.br |
_version_ |
1754732626508251136 |