Causes
An abnormality of the upper limbs and heart characterizes Holt-Oram syndrome, a rare genetic disorder. This disorder is caused by mutations in the TBX5 gene, which is critical for the development of the heart and upper limbs during fetal development. Due to these mutations, Holt-Oram syndrome disrupts normal development.
Symptoms
Holt-Oram syndrome is characterized by the following symptoms:
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Individuals with Holt-Oram syndrome often have abnormalities of the upper limbs, such as absent or underdeveloped thumbs, shortening or fusion of bones in the forearm or other hand and arm anomalies.
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Many people with Holt-Oram syndrome have congenital heart defects, particularly atrial septal defects (ASDs) or ventricular septal defects (VSDs). These defects can affect the structure and function of the heart and may require surgery.
Diagnosis
In order to diagnose Holt-Oram syndrome, a combination of clinical evaluation and genetic testing is typically required. A physical examination can reveal characteristic upper limb abnormalities. Holt-Oram syndrome mutations can be identified by genetic testing, such as sequencing the TBX5 gene.
Treatment
In order to manage the symptoms and complications of Holt-Oram syndrome, surgery may be necessary to correct skeletal abnormalities or congenital heart defects. Those with heart defects may need regular monitoring by a cardiologist to assess their cardiac function and deal with any complications that may occur.
Prevention
For individuals with a family history of Holt-Oram syndrome, prevention strategies primarily focus on genetic counseling and testing. An individual with a genetic disorder can obtain information about their risk of passing the condition on to future children and about family planning options. To assess the probability that their child will inherit Holt-Oram syndrome, couples at risk may be offered prenatal testing.
Conclusion
It is characterized by skeletal abnormalities of the upper limbs and congenital heart defects. It is caused by mutations in the TBX5 gene and is diagnosed by clinical and genetic testing. Surgical correction of cardiac defects and skeletal abnormalities is part of treatment for the condition, as well as managing its symptoms and complications. At-risk individuals and families should receive genetic counseling and testing to understand the risk of passing the condition on to their children.
