Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

Detalhes bibliográficos
Autor(a) principal: Oliveira,Priscila H. A.
Data de Publicação: 2018
Outros Autores: Souza,Beatriz S., Pacheco,Eimi N., Menegazzo,Michele S., Corrêa,Ivan S., Zen,Paulo R. G., Rosa,Rafael F. M., Cesa,Claudia C., Pellanda,Lucia C., Vilela,Manuel A. P.
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=S0066-782X2018000100084
Resumo: Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.
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spelling Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical PracticeHeart Defects, Congenital/geneticEye DiseasesDiagnostic Tevhniques, OphtalmologicHeart Septal Defects, AtrialTetralogy of FallotAbstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.Sociedade Brasileira de Cardiologia - SBC2018-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2018000100084Arquivos Brasileiros de Cardiologia v.110 n.1 2018reponame:Arquivos Brasileiros de Cardiologia (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.5935/abc.20180013info:eu-repo/semantics/openAccessOliveira,Priscila H. A.Souza,Beatriz S.Pacheco,Eimi N.Menegazzo,Michele S.Corrêa,Ivan S.Zen,Paulo R. G.Rosa,Rafael F. M.Cesa,Claudia C.Pellanda,Lucia C.Vilela,Manuel A. P.eng2018-03-05T00:00:00Zoai:scielo:S0066-782X2018000100084Revistahttp://www.arquivosonline.com.br/https://old.scielo.br/oai/scielo-oai.php||arquivos@cardiol.br1678-41700066-782Xopendoar:2018-03-05T00:00Arquivos Brasileiros de Cardiologia (Online) - Sociedade Brasileira de Cardiologia (SBC)false
dc.title.none.fl_str_mv Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
title Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
spellingShingle Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
Oliveira,Priscila H. A.
Heart Defects, Congenital/genetic
Eye Diseases
Diagnostic Tevhniques, Ophtalmologic
Heart Septal Defects, Atrial
Tetralogy of Fallot
title_short Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
title_full Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
title_fullStr Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
title_full_unstemmed Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
title_sort Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice
author Oliveira,Priscila H. A.
author_facet Oliveira,Priscila H. A.
Souza,Beatriz S.
Pacheco,Eimi N.
Menegazzo,Michele S.
Corrêa,Ivan S.
Zen,Paulo R. G.
Rosa,Rafael F. M.
Cesa,Claudia C.
Pellanda,Lucia C.
Vilela,Manuel A. P.
author_role author
author2 Souza,Beatriz S.
Pacheco,Eimi N.
Menegazzo,Michele S.
Corrêa,Ivan S.
Zen,Paulo R. G.
Rosa,Rafael F. M.
Cesa,Claudia C.
Pellanda,Lucia C.
Vilela,Manuel A. P.
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Oliveira,Priscila H. A.
Souza,Beatriz S.
Pacheco,Eimi N.
Menegazzo,Michele S.
Corrêa,Ivan S.
Zen,Paulo R. G.
Rosa,Rafael F. M.
Cesa,Claudia C.
Pellanda,Lucia C.
Vilela,Manuel A. P.
dc.subject.por.fl_str_mv Heart Defects, Congenital/genetic
Eye Diseases
Diagnostic Tevhniques, Ophtalmologic
Heart Septal Defects, Atrial
Tetralogy of Fallot
topic Heart Defects, Congenital/genetic
Eye Diseases
Diagnostic Tevhniques, Ophtalmologic
Heart Septal Defects, Atrial
Tetralogy of Fallot
description Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.
publishDate 2018
dc.date.none.fl_str_mv 2018-01-01
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2018000100084
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/abc.20180013
dc.rights.driver.fl_str_mv info:eu-repo/semantics/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.110 n.1 2018
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)
repository.mail.fl_str_mv ||arquivos@cardiol.br
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