Learn About Holt-Oram Syndrome
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems.
Mutations in the TBX5 gene cause Holt-Oram syndrome. This gene provides instructions for making a protein that plays a role in the development of the heart and upper limbs before birth. In particular, this gene appears to be important for the process that divides the developing heart into four chambers (cardiac septation). The TBX5 gene also appears to play a critical role in regulating the development of bones in the arm and hand. Mutations in this gene probably disrupt the development of the heart and upper limbs, leading to the characteristic features of Holt-Oram syndrome.
Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Harald Lahm practices in Munich, Germany. Mr. Lahm is rated as an Elite expert by MediFind in the treatment of Holt-Oram Syndrome. His top areas of expertise are Holt-Oram Syndrome, Wildervanck Syndrome, Hypoplastic Left Heart Syndrome (HLHS), and Ventricular Fibrillation.
Martina Dressen practices in Munich, Germany. Ms. Dressen is rated as an Elite expert by MediFind in the treatment of Holt-Oram Syndrome. Her top areas of expertise are Holt-Oram Syndrome, Wildervanck Syndrome, Hypoplastic Left Heart Syndrome (HLHS), and Ventricular Septal Defects.
Aurora Cardiovascular Services
Tonga Nfor is an Interventional Cardiologist in Milwaukee, Wisconsin. Dr. Nfor is rated as an Experienced provider by MediFind in the treatment of Holt-Oram Syndrome. His top areas of expertise are Heart Attack, Atherosclerosis, Angina, Atherectomy, and Angioplasty.
Published Date: June 01, 2014
Published By: National Institutes of Health