Holt-Oram syndrome

Common Name(s)

Holt-Oram syndrome

Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). Holt-Oram syndrome is caused by mutations in the TBX5 gene and is inherited in an autosomal dominant manner. Most cases result from new mutations in the gene and occur in people with no family history of the condition.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holt-Oram syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 4 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Holt-Oram syndrome" for support, advocacy or research.

Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 4 May 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Holt-Oram syndrome" returned 44 free, full-text research articles on human participants. First 3 results:

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

Author(s): Ingeborg Barisic, Ljubica Boban, Ruth Greenlees, Ester Garne, Diana Wellesley, Elisa Calzolari, Marie-Claude Addor, Larraitz Arriola, Jorieke Eh Bergman, Paula Braz, Judith Ls Budd, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Bob McDonnell, Vera Nelen, Anna Pierini, Annette Queisser-Wahrendorf, Judith Rankin, Anke Rissmann, Catherine Rounding, David Tucker, Christine Verellen-Dumoulin, Helen Dolk

Journal:

 

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.

Last Updated: 11 Nov 2014

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Unexplained right atrial enlargement may be a sign of Holt-Oram syndrome in the fetus.
 

Author(s): D Paladini, M Tiesi, D Buffi, G Tuo, M Marasini

Journal: Ultrasound Obstet Gynecol. 2014 Apr;43(4):475-6.

 

Two cases of ultrasound diagnosis of Holt-Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to concurrent tricuspid regurgitation or other cardiac anomalies. In both cases the associated skeletal anomaly was subtle and barely ...

Last Updated: 2 Apr 2014

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Anesthetic implications in Holt-Oram Syndrome.
 

Author(s): Ajmer Singh, Vikrant S Pathania, Samir Girotra, Krishna S Iyer

Journal: Ann Card Anaesth. ;16(2):157-8.

 

Last Updated: 2 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Holt-Oram syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.