What are symptoms of Holt-Oram syndrome?

Individuals with Holt-Oram syndrome may have additional bone abnormalities including a missing thumb , a long thumb that looks like a finger , partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades.

What causes Holt-Oram syndrome?

Genetics. Mutations in the TBX5 gene cause Holt–Oram syndrome. The TBX5 gene produces a protein that is critical for the proper development of the heart and upper limbs before birth.

Why is there a left sided severity difference associated with Holt-Oram syndrome?

Holt-Oram syndrome patients have upper limb defects, including shortened arms. Consistently the defects are more severe in their left arm than right. This birth defect is caused by disruption of the TBX5 gene.

What is HOS syndrome?

Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia.

How do you test for Holt-Oram syndrome?

The diagnosis of Holt-Oram syndrome is based on physical findings and family history. Hand x-rays are performed for upper limb malformations. Echocardiography, MRI and other imaging modalities and electrocardiography are used to determine the presence and severity of heart defects and/or cardiac conduction disease.

Is Holt-Oram syndrome life expectancy?

Holt-Oram syndrome life expectancy The long-term outlook for people with Holt-Oram syndrome may depend on the severity of heart defects. Some people with Holt-Oram syndrome have no heart problems, or the problems are mild and only require occasional monitoring by a cardiologist.

Is there a cure for Holt-Oram syndrome?

The primary treatment for structural abnormalities of the heart associated with Holt-Oram syndrome is closure of the defect(s) with surgery or catheters. In such cases, the surgical procedures performed will depend upon the location and severity of the abnormalities and their associated symptoms.

Is Holt-Oram syndrome associated with congenital heart disease?

Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities.