Holt-Oram Syndrome Differential Diagnoses

Updated: May 05, 2016
  • Author: Craig T Basson, MD, PhD; Chief Editor: Yasmine S Ali, MD, MSCI, FACC, FACP  more...
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Diagnostic Considerations

Important considerations

Recognize structural cardiac disease or potential for arrhythmias.

Provide appropriate genetic counseling or properly inform the patient of the heritable nature of the disorder.

Institute appropriate antibiotic prophylaxis.

Children with very subtle limb abnormalities may mistakenly be assumed to be unaffected. However, all children or siblings of an affected individual, even those who have normal findings upon physical examination of the limbs, should undergo echocardiography and upper limb radiography.

Other considerations

Also consider the following conditions in patients with suspected Holt-Oram syndrome:

  • Chromosomal anomaly

  • Duane radial ray syndrome (Okihiro syndrome)

  • Fanconi anemia

  • Teratogen exposure

  • Thrombocytopenia with absence of radius (TAR) syndrome

  • Townes-Brocks syndrome

  • Ulnar-mammary syndrome

  • Vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial and renal anomalies complex (ie, VATER complex)

Differential Diagnoses