Holt-Oram Syndrome

Definition

Holt-Oram syndrome is an inherited syndrome characterized by congenital heart defects and upper extremity anomalies.

Symptoms

  • Atrial septal defect
  • Radial ray anomalies
  • Pectoral muscle hypoplasia
  • Cardiac conduction defects

Reasons

TBX5 gene mutation.

Diagnosis

Clinical findings, genetic testing.

Treatment

Cardiac surgery, orthopedic treatment.

Which Polyclinic Should You Apply To?

Genetics Polyclinic

What to Do in an Emergency?

In case of symptoms of heart failure, emergency services should be sought.

This page is for general information purposes only.