Holt Oram syndrome: a registry-based study in Europe
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/2613 |
Resumo: | Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods:The study was based on data collected during 1990–2011 by 34 registries. The registries are population based and use multiple sources of information to collect data on all types of birth using standardized definitions,methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. Results: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8%(20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1%(2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/ hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. Conclusions: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes. |
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Holt Oram syndrome: a registry-based study in EuropeHolt Oram SyndromeCongenital AnomaliesPrenatal DiagnosisEpidemiologyEuropeEstados de Saúde e de DoençaBackground: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods:The study was based on data collected during 1990–2011 by 34 registries. The registries are population based and use multiple sources of information to collect data on all types of birth using standardized definitions,methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. Results: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8%(20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1%(2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/ hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. Conclusions: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.BioMed Central/OrphanetRepositório Científico do Instituto Nacional de SaúdeBarisic, IngeborgBoban, LjubicaGreenlees, RuthGarne, EsterWellesley, DianaCalzolar, ElisaAddor, Marie-ClaudeArriola, LarraitzBergman, Jorieke EHBraz, PaulaJudith LS Budd, BuddMiriam, GattMartin, HaeuslerBabak, KhoshnoodKari, KlungsoyBob, McDonnellVera, NelenAnna, PieriniAnnette, Queisser-WahrendorfJudith, RankinAnke, RissmannCatherine, RoundingDavid, TuckerChristine, Verellen-DumoulinHelen, Dolk2015-01-08T15:40:15Z2014-10-252014-10-25T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/2613engOrphanet J Rare Dis. 2014 Oct 25;9(1):156. doi: 10.1186/s13023-014-0156-y10.1186/s13023-014-0156-yinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:39:23Zoai:repositorio.insa.pt:10400.18/2613Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:37:38.094521Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Holt Oram syndrome: a registry-based study in Europe |
title |
Holt Oram syndrome: a registry-based study in Europe |
spellingShingle |
Holt Oram syndrome: a registry-based study in Europe Barisic, Ingeborg Holt Oram Syndrome Congenital Anomalies Prenatal Diagnosis Epidemiology Europe Estados de Saúde e de Doença |
title_short |
Holt Oram syndrome: a registry-based study in Europe |
title_full |
Holt Oram syndrome: a registry-based study in Europe |
title_fullStr |
Holt Oram syndrome: a registry-based study in Europe |
title_full_unstemmed |
Holt Oram syndrome: a registry-based study in Europe |
title_sort |
Holt Oram syndrome: a registry-based study in Europe |
author |
Barisic, Ingeborg |
author_facet |
Barisic, Ingeborg Boban, Ljubica Greenlees, Ruth Garne, Ester Wellesley, Diana Calzolar, Elisa Addor, Marie-Claude Arriola, Larraitz Bergman, Jorieke EH Braz, Paula Judith LS Budd, Budd Miriam, Gatt Martin, Haeusler Babak, Khoshnood Kari, Klungsoy Bob, McDonnell Vera, Nelen Anna, Pierini Annette, Queisser-Wahrendorf Judith, Rankin Anke, Rissmann Catherine, Rounding David, Tucker Christine, Verellen-Dumoulin Helen, Dolk |
author_role |
author |
author2 |
Boban, Ljubica Greenlees, Ruth Garne, Ester Wellesley, Diana Calzolar, Elisa Addor, Marie-Claude Arriola, Larraitz Bergman, Jorieke EH Braz, Paula Judith LS Budd, Budd Miriam, Gatt Martin, Haeusler Babak, Khoshnood Kari, Klungsoy Bob, McDonnell Vera, Nelen Anna, Pierini Annette, Queisser-Wahrendorf Judith, Rankin Anke, Rissmann Catherine, Rounding David, Tucker Christine, Verellen-Dumoulin Helen, Dolk |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Barisic, Ingeborg Boban, Ljubica Greenlees, Ruth Garne, Ester Wellesley, Diana Calzolar, Elisa Addor, Marie-Claude Arriola, Larraitz Bergman, Jorieke EH Braz, Paula Judith LS Budd, Budd Miriam, Gatt Martin, Haeusler Babak, Khoshnood Kari, Klungsoy Bob, McDonnell Vera, Nelen Anna, Pierini Annette, Queisser-Wahrendorf Judith, Rankin Anke, Rissmann Catherine, Rounding David, Tucker Christine, Verellen-Dumoulin Helen, Dolk |
dc.subject.por.fl_str_mv |
Holt Oram Syndrome Congenital Anomalies Prenatal Diagnosis Epidemiology Europe Estados de Saúde e de Doença |
topic |
Holt Oram Syndrome Congenital Anomalies Prenatal Diagnosis Epidemiology Europe Estados de Saúde e de Doença |
description |
Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods:The study was based on data collected during 1990–2011 by 34 registries. The registries are population based and use multiple sources of information to collect data on all types of birth using standardized definitions,methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. Results: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8%(20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1%(2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/ hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. Conclusions: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-10-25 2014-10-25T00:00:00Z 2015-01-08T15:40:15Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/2613 |
url |
http://hdl.handle.net/10400.18/2613 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Orphanet J Rare Dis. 2014 Oct 25;9(1):156. doi: 10.1186/s13023-014-0156-y 10.1186/s13023-014-0156-y |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
dc.publisher.none.fl_str_mv |
BioMed Central/Orphanet |
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BioMed Central/Orphanet |
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reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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1799132111298363392 |