Holt Oram syndrome: a registry-based study in Europe

Hdl Handle:
http://hdl.handle.net/10147/334655
Title:
Holt Oram syndrome: a registry-based study in Europe
Authors:
Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke EH; Braz, Paula; Budd, Judith LS; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen
Citation:
Orphanet Journal of Rare Diseases. 2014 Oct 25;9(1):156
Issue Date:
25-Oct-2014
URI:
http://dx.doi.org/10.1186/s13023-014-0156-y; http://hdl.handle.net/10147/334655
Abstract:
Abstract 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.
Item Type:
Article
Language:
en
Keywords:
RARE DISEASE
Local subject classification:
HOTL ORAM SYNDROME

Full metadata record

DC FieldValue Language
dc.contributor.authorBarisic, Ingeborgen_GB
dc.contributor.authorBoban, Ljubicaen_GB
dc.contributor.authorGreenlees, Ruthen_GB
dc.contributor.authorGarne, Esteren_GB
dc.contributor.authorWellesley, Dianaen_GB
dc.contributor.authorCalzolari, Elisaen_GB
dc.contributor.authorAddor, Marie-Claudeen_GB
dc.contributor.authorArriola, Larraitzen_GB
dc.contributor.authorBergman, Jorieke EHen_GB
dc.contributor.authorBraz, Paulaen_GB
dc.contributor.authorBudd, Judith LSen_GB
dc.contributor.authorGatt, Miriamen_GB
dc.contributor.authorHaeusler, Martinen_GB
dc.contributor.authorKhoshnood, Babaken_GB
dc.contributor.authorKlungsoyr, Karien_GB
dc.contributor.authorMcDonnell, Boben_GB
dc.contributor.authorNelen, Veraen_GB
dc.contributor.authorPierini, Annaen_GB
dc.contributor.authorQueisser-Wahrendorf, Annetteen_GB
dc.contributor.authorRankin, Judithen_GB
dc.contributor.authorRissmann, Ankeen_GB
dc.contributor.authorRounding, Catherineen_GB
dc.contributor.authorTucker, Daviden_GB
dc.contributor.authorVerellen-Dumoulin, Christineen_GB
dc.contributor.authorDolk, Helenen_GB
dc.date.accessioned2014-11-11T15:12:52Z-
dc.date.available2014-11-11T15:12:52Z-
dc.date.issued2014-10-25-
dc.identifier.citationOrphanet Journal of Rare Diseases. 2014 Oct 25;9(1):156en_GB
dc.identifier.urihttp://dx.doi.org/10.1186/s13023-014-0156-y-
dc.identifier.urihttp://hdl.handle.net/10147/334655-
dc.description.abstractAbstract 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.-
dc.language.isoenen
dc.subjectRARE DISEASEen_GB
dc.subject.otherHOTL ORAM SYNDROMEen_GB
dc.titleHolt Oram syndrome: a registry-based study in Europeen_GB
dc.typeArticleen
dc.language.rfc3066en-
dc.rights.holderIngeborg Barisic et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2014-11-07T16:03:40Z-
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