NORD gratefully acknowledges Jaqueline Picache, NORD Editorial Intern from the University of Notre Dame, and Craig T. Basson, MD, PhD, Vice President, GlobalTranslational Medicine Head – Cardiovascular and Metabolism, Novartis Institutes for BioMedical Research, for assistance in the preparation of this report.
Holt-Oram syndrome is a disorder that affects approximately 1 in 100,000 individuals. It is characterized by abnormalities in the bones of the upper limb, a family or personal history of a congenital heart malformation, and/or an abnormality in the electrical impulses that coordinate the muscle contractions of the heart (cardiac conduction defect). In some affected individuals, an abnormal wrist (carpal) bone is the only evidence of the disease. Seventy-five percent of those affected have a congenital heart malformation. Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with an abnormality in the TBX5 gene. While this mutation can be inherited, most cases result from a new mutation in patients without a family history of the disorder.
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., skeletal malformations affecting the upper limbs, heart defects, etc.].)
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