From Mary Kugler, R.N.,
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Holt-Oram syndrome is an inherited disorder that causes abnormalities of the hands, arms, and heart. In the United States, it occurs in approximately one in every 100,000 children born, and affects both males and females equally.

Symptoms
Symptoms of Holt-Oram syndrome generally fall into two groups:

• Arm and hand abnormalities - Defects in the bones of the hand and/or arm are always present. They may affect one or both sides of the body. Most commonly there are defects in the carpal bones of the wrist and in the bones of the thumb. The thumb may be misshapen or even missing. In some severe cases of Holt-Oram syndrome, the arms may be very short so that the hands are attached close to the body (called phocomelia).
• Heart abnormalities - About 75% of individuals with Holt-Oram syndrome have some type of heart abnormality. In most individuals, a heart defect such as an atrial septal defect or ventricular septal defect is present. Abnormal heart rhythms may also be present.

Diagnosis
Holt-Oram syndrome is present at birth, so diagnosis may be made based on hand and arm abnormalities. If the hand/arm abnormalities are subtle, the diagnosis may not be made until later in life, when the heart symptoms of the disease become evident. X-rays can detect bone abnormalities, and an electrocardiogram or echocardiogram can detect heart problems.

Treatment
Treatment of Holt-Oram syndrome is focused on treating the symptoms. Large heart defects can lead to heart failure, so a cardiologist will need to be consulted. Children with severe arm defects can be referred to orthopedic surgeons to improve arm function.

Genetic counseling
It is important that once an individual has been diagnosed with Holt-Oram syndrome, his family members should be screened for the syndrome. The individual with Holt-Oram syndrome should also be aware that the disorder is inherited in an autosomal dominant manner, meaning that each of his/her children will have a 50% chance of inheriting the disorder.

Information for this article was taken from:
Basson, C.T. (2004). Holt-Oram syndrome. eMedicine, accessed at http://www.emedicine.com/med/topic2940.htm