Holt Oram syndrome: a registry-based study in Europe.

Helen Dolk, Ingeborg Barisic, L Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, JEH Bergman, P Braz, J Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, B McDonnell, Vera Nelen, Anna Pierini, A Queisser-Wahrendorf & 5 others J Rankin, Anke Rissmann, Catherine Rounding, D Tucker, Christine Verellen-Dumoulin

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.
LanguageEnglish
JournalOrphanet Journal of Rare Diseases
DOIs
Publication statusPublished - 25 Oct 2014

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Registries
Heart Diseases
Parturition
Congenital Heart Defects
Parents
Ectromelia
Pregnancy
Humerus
Thumb
Holt-Oram syndrome
Upper Extremity
Counseling
Survival
Population

Cite this

Dolk, H., Barisic, I., Boban, L., Greenlees, R., Garne, E., Wellesley, D., ... Verellen-Dumoulin, C. (2014). Holt Oram syndrome: a registry-based study in Europe.. https://doi.org/10.1186/s13023-014-0156-y
Dolk, Helen ; Barisic, Ingeborg ; Boban, L ; Greenlees, Ruth ; Garne, Ester ; Wellesley, Diana ; Calzolari, Elisa ; Addor, Marie-Claude ; Arriola, Larraitz ; Bergman, JEH ; Braz, P ; Budd, J ; Gatt, Miriam ; Haeusler, Martin ; Khoshnood, Babak ; Klungsoyr, Kari ; McDonnell, B ; Nelen, Vera ; Pierini, Anna ; Queisser-Wahrendorf, A ; Rankin, J ; Rissmann, Anke ; Rounding, Catherine ; Tucker, D ; Verellen-Dumoulin, Christine. / Holt Oram syndrome: a registry-based study in Europe. 2014.
@article{24578a58b28f43c29fa5953dcc81bf87,
title = "Holt Oram syndrome: a registry-based study in Europe.",
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.",
author = "Helen Dolk and Ingeborg Barisic and L Boban and Ruth Greenlees and Ester Garne and Diana Wellesley and Elisa Calzolari and Marie-Claude Addor and Larraitz Arriola and JEH Bergman and P Braz and J Budd and Miriam Gatt and Martin Haeusler and Babak Khoshnood and Kari Klungsoyr and B McDonnell and Vera Nelen and Anna Pierini and A Queisser-Wahrendorf and J Rankin and Anke Rissmann and Catherine Rounding and D Tucker and Christine Verellen-Dumoulin",
year = "2014",
month = "10",
day = "25",
doi = "10.1186/s13023-014-0156-y",
language = "English",

}

Dolk, H, Barisic, I, Boban, L, Greenlees, R, Garne, E, Wellesley, D, Calzolari, E, Addor, M-C, Arriola, L, Bergman, JEH, Braz, P, Budd, J, Gatt, M, Haeusler, M, Khoshnood, B, Klungsoyr, K, McDonnell, B, Nelen, V, Pierini, A, Queisser-Wahrendorf, A, Rankin, J, Rissmann, A, Rounding, C, Tucker, D & Verellen-Dumoulin, C 2014, 'Holt Oram syndrome: a registry-based study in Europe.'. https://doi.org/10.1186/s13023-014-0156-y

Holt Oram syndrome: a registry-based study in Europe. / Dolk, Helen; Barisic, Ingeborg ; Boban, L; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, JEH; Braz, P; Budd, J; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, B; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, A; Rankin, J; Rissmann, Anke; Rounding, Catherine; Tucker, D; Verellen-Dumoulin, Christine.

25.10.2014.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Holt Oram syndrome: a registry-based study in Europe.

AU - Dolk, Helen

AU - Barisic, Ingeborg

AU - Boban, L

AU - Greenlees, Ruth

AU - Garne, Ester

AU - Wellesley, Diana

AU - Calzolari, Elisa

AU - Addor, Marie-Claude

AU - Arriola, Larraitz

AU - Bergman, JEH

AU - Braz, P

AU - Budd, J

AU - Gatt, Miriam

AU - Haeusler, Martin

AU - Khoshnood, Babak

AU - Klungsoyr, Kari

AU - McDonnell, B

AU - Nelen, Vera

AU - Pierini, Anna

AU - Queisser-Wahrendorf, A

AU - Rankin, J

AU - Rissmann, Anke

AU - Rounding, Catherine

AU - Tucker, D

AU - Verellen-Dumoulin, Christine

PY - 2014/10/25

Y1 - 2014/10/25

N2 - 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.

AB - 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.

U2 - 10.1186/s13023-014-0156-y

DO - 10.1186/s13023-014-0156-y

M3 - Article

ER -

Dolk H, Barisic I, Boban L, Greenlees R, Garne E, Wellesley D et al. Holt Oram syndrome: a registry-based study in Europe. 2014 Oct 25. https://doi.org/10.1186/s13023-014-0156-y