Other Names for this Disease
- Atrio digital syndrome
- Atriodigital dysplasia
- Cardiac-limb syndrome
- Heart-hand syndrome
- Heart-hand syndrome, type 1
What are the signs and symptoms of Holt-Oram syndrome?
What causes Holt-Oram syndrome?
How is Holt-Oram syndrome inherited?
How is Holt-Oram syndrome diagnosed?
How might Holt-Oram syndrome be treated?
About 75% of affected people have heart problems, which can be life-threatening. The most common problems are an atrial septal defect (ASD) and a ventricular septal defect (VSD). Some people have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation).The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome but these two disorders are caused by mutations in different genes.
In some cases the mutation occurs for the first time in an affected person, while in other cases the mutation is inherited from a parent. However, in both of these cases, there is nothing a parent can do to cause this mutation or condition in a child.
In most cases, the mutation in the gene occurs for the first time in the affected person and is not inherited from a parent. When a mutation occurs for the first time, it is called a de novo mutation. This is what typically occurs when there is no family history of the condition. A de novo mutation is due to a random change in the DNA in an egg or sperm cell, or right after conception.
In some cases, an affected person inherits the mutated copy of the gene from an affected parent. In these cases, the symptoms and severity can differ from those of the affected parent.
When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the condition.
Holt-Oram syndrome can be excluded in individuals with congenital malformations involving the following structures or organ systems: ulnar ray only, kidney, vertebra, head and face region, auditory system (hearing loss or ear malformations), lower limb, anus, or eye.
Depending upon the severity of any upper limb abnormalities, treatment may consist of corrective or reconstructive surgery, the use of artificial replacements for portions of the forearms and hands (limb prosthetics), and/or physical therapy to help individuals enhance their motor skills. In those with mild cardiac conduction abnormalities, treatment may not be required. In more severe cases, an artificial pacemaker may be used. An artificial pacemaker overrides the heart's impaired electrical conducting system by sending electrical impulses to the heart that keep the heartbeat at a regular rate. Heart abnormalities may also be treated with certain medications, surgery, and/or other techniques. In such cases, the surgical procedures performed will depend upon the location and severity of the abnormalities and their associated symptoms.
Affected individuals with heart defects may also be at risk for bacterial infection and inflammation of the lining of the heart's chambers and valves (endocarditis). So antibiotics should be prescribed before any surgical procedure, including dental procedures such as tooth extractions. In addition, because some individuals with certain heart defects may be susceptible to repeated respiratory infections, physicians may closely monitor such individuals to take preventive steps and to institute antibiotic and/or other appropriate therapies should such infections occur.
Early intervention is important to ensure that children with Holt-Oram syndrome reach their potential. Special services that may be beneficial to affected children may include physical therapy and/or other medical, social, and/or vocational services.
- Holt-Oram Syndrome. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/holt-oram-syndrome. Accessed 7/19/2011.
- Holt-Oram syndrome. Genetics Home Reference. June 2014; http://ghr.nlm.nih.gov/condition/holt-oram-syndrome. Accessed 9/16/2014.
- Craig T Basson. Holt-Oram syndrome. Medscape Reference. September 15, 2014; http://emedicine.medscape.com/article/159911-overview. Accessed 9/17/2014.
- McDermott DA, Fong JC, Basson CT. Holt-Oram Syndrome. GeneReviews. January 2011; http://www.ncbi.nlm.nih.gov/books/NBK1111/. Accessed 7/19/2011.
- Holt Oram Syndrome. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/523/viewAbstract. Accessed 7/19/2011.