- Atrio digital syndrome
- Atriodigital dysplasia
- Atriodigital dysplasia type 1
- Cardiac-limb syndrome
- Heart-hand syndrome
Your QuestionDuring a recent meeting with a geneticist regarding my youngest son, my two boys and I were diagnosed with Holt-Oram syndrome. Why is my youngest son affected much worse than myself and my oldest son? Why, after 24 years, was I just diagnosed? I have been to doctors all my life. Also, what can I do to get the help needed to improve the well being of my boys and myself?
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Questions on this page
- What is Holt-Oram syndrome?
- What are the signs and symptoms of Holt-Oram syndrome?
- Can signs and symptoms of Holt-Oram syndrome be different among family members?
- How is Holt-Oram syndrome diagnosed?
- Can a diagnosis of Holt-Oram syndrome be missed?
- How can I find a genetics professional in my area?
- 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.
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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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.
- 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.