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 individuals have at least one bone abnormality in the wrist, and they may have additional skeletal abnormalities. About 75 percent of individuals with Holt-Oram syndrome have heart problems, including congenital heart defects and/or cardiac conduction disease, which is an abnormality in the electrical system that coordinates contractions of the heart chambers. Holt-Oram syndrome is caused by mutations in the TBX5 gene. Most cases result from new mutations in this gene and occur in people with no history of the disorder in their family.
 

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: 30 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 30 Oct 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 42 free, full-text research articles on human participants. First 3 results:

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

Go To URL
Tetralogy of Fallot with Holt-Oram syndrome.
 

Author(s): Vikas Kumar, Vikas Agrawal, Dharmendra Jain, Om Shankar

Journal: Indian Heart J. ;64(1):95-8.

 

Holt-Oram syndrome (HOS) is characterised by mild to severe congenital cardiac defects and skeletal abnormalities of the upper limb. This syndrome is also referred to as Hand-Heart syndrome. The most common cardiac disorder is an ostium secundum detected an atrial septal defect (ASD), ...

Last Updated: 10 May 2012

Go To URL
Rare cardiac defect in Holt-Oram syndrome.
 

Author(s): R Sinha, C Nema

Journal:

 

Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. Approximately 40% of cases represent new mutations. Defective development of the embryonic radial ray (e.g. aplasia, hypoplasia, fusion, other ...

Last Updated: 26 Mar 2012

Go To URL

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.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.