Medical Care
A clinical evaluation can usually be performed in an outpatient setting, but inpatient studies and surgical treatment may be necessary. Admit patients for cardiovascular testing and surgical intervention.
Patients with advanced heart block may require a permanent pacemaker.
Surgical therapy can be used to correct cardiac defects or to possibly improve limb function.
No specific medications are indicated for this condition. However, antibiotic prophylaxis and anticoagulation may be required, depending on the severity of congenital heart disease.
Transfer may be required for further diagnostic evaluation and surgical intervention.
Consultations
Obtain consultations with the following specialists:
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Cardiologist
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Geneticist
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Cardiothoracic surgeon
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Orthopedic surgeon
Diet and activity
No special diet is required. Limit activity if heart failure or persistent cardiac sequelae are present.
Prevention
No known causative environmental factors are described; therefore, no particular deterrent is available.
Long-term monitoring
Follow up with patients with significant congenital heart disease at least annually. Periodic follow-up for cardiac conduction disease is warranted in all affected individuals.
Surgical Care
Most cardiac lesions such as ASD and VSD are amenable to complete surgical correction if pulmonary hypertension or ventricular failure has not developed. Several percutaneous transcatheter devices that can be placed to occlude the septum are in US Food and Drug Administration–approved clinical trials and may be nonsurgical options in the future.
Septal defects without hemodynamically significant shunts do not require correction.
Children with severe limb anomalies can be referred to orthopedic surgeons for consideration of procedures such as pollicization of the fifth digit (to improve upper limb function).
Children with severe limb shortening may benefit from prostheses.
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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.
