Holt-Oram Syndrome

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Holt-oram syndrome (HOS) is an autosomal inherited disorder characterized by abnormalities of the upper limbs and heart. Holt and Oram first described this condition in 1960.

The disease is due to mutations in the transcription factor TBX5, which is important in the development both the heart and upper limbs.

Both sexes are equally affected but the defect tend be more severe in females and the malformation are present at birth.

What are the symptoms of Holt-oram syndrome?

Patients may present with limb malformation and/or sings of cardiac failure secondary to ASD, VSD, or cardiac conduction disease like atrial fibrillation.

On physical examination:

1. Unilateral or bilateral upper limb deformity
2. Unequal arm length due to aplasia, hypoplasia, fusion or anomalous development of the radial, carpal, and thenar bones.
3. Abnormal forearm pronation and supination.
4. Abnormal opposition of thumb
5. Phocomelia
6. Bradycardia
7. irregular pulse

If anomalies involves in ulnar bone, lower limb, kidneys, eyes, ear, craniofacial, vertebrae Holt-oram syndrome can be exclude.

How is Holt-oram syndrome  diagnosed?

Diagnosis relies on clinical findings by a specialist.  Criteria for the diagnosis of HOS requires 1) defect of the radial side of the hand and 2) septal defect(s) or conduction abnormality of the heart, within one individual or family.The bone defect and cardiac abnormalits is detected through X-ray and echocardiograph .some times testing to identify in the TBX5 gene may be offered, but is not necessary for the diagnosis of HOS.

Is there a cure of Holt-oram syndrome??

There is no cure of HOS but some treatment available that can effectively reduce the symptoms and complications the disease. Referral for genetic counseling should be considered for families in which HOS has been diagnosed. For children with heart defects, surgical repair is often necessary. This may take place shortly after birth if the heart abnormality is life threatening.

Prognosis for individual with HOS depends on the severity of associated birth defects.

Reference:

• www.emedicinehealth.com
• emedicine.medscape.com
• www.medicinenet.com
• en.wikipedia.org
• www.nlm.nih.gov
• www.google.com/health

Filed Under: Pediatrics

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