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:
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Chromosomal anomaly
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Duane radial ray syndrome (Okihiro syndrome)
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Teratogen exposure
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Townes-Brocks syndrome
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Ulnar-mammary syndrome
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Vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial and renal anomalies complex (ie, VATER complex)
Differential Diagnoses
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Holt-Oram Syndrome. Posteroanterior radiograph of the hands of a patient with Holt-Oram syndrome. The distal phalanx of the left thumb is hypoplastic. The carpal bones of both hands are abnormal, but the abnormalities on the left side are greater than those on the right side. Left-sided upper limb radial ray abnormalities are often greater than those on the right side. The scaphoid and trapezium of the left hand are enlarged and misshapen, resulting in a distal displacement of the thumb. Note the marked abnormalities of the left capitate and hamate. The left radial stylus is flattened.
