Abstract

Holt-Oram Syndrome (HOS) is the most common of the heart-hand syndromes. The syndrome is characterized by limb deformities in conjunction with structural cardiac defects, and oftentimes conduction abnormalities. The cardiac defects can range from septal defects to more severe cardiac defects including tetralogy of Fallot, double outlet right ventricle, valvular atresia, and truncus arteriosus. HOS most commonly occurs de novo, but can also be inherited in an autosomal dominant manner. Diagnosis can be confirmed by molecular genetic testing that identifies the pathogenic variant on the q arm of chromosome 12, TBX5. Patients with HOS require close cardiac surveillance and follow-up with an orthopedic center. This article will discuss HOS, the differential diagnosis, and recommendations for continuation of care for these atrisk patients.