Sections

Treatment

Medical Care

Acute-stage management in patients with Holt-Oram syndrome

Treatment is directed at the cardiac manifestations. Care may be necessary with exacerbations of heart failure, for interventional procedures, or for surgical correction of heart disease. Administer medications as dictated by the heart disease.

Establish a complete diagnosis, and counsel the patient and family.

Consultations

Consult with the following:

Pediatric cardiologist
Orthopedic specialist
Radiologist
Nuclear medicine specialist
Family physician
Occupational therapist
Physiotherapist
Psychologist
School teacher
Specialist nurse
Pharmacist
Dietitian

Transfer

Transfer may be necessary for further evaluation and surgical or transcatheter intervention.

Diet and activity

Patients with Holt-Oram syndrome may require dietary modification because of their specific cardiac abnormality.

No activity restrictions are required unless a specific cardiac abnormality indicates otherwise.

Outpatient monitoring

Regular follow-up is essential for both cardiac and skeletal conditions. The patient should be seen by orthopedic and occupational therapists, as well as by physiotherapists.

At each visit, the importance of prevention of deformity must be emphasized.

Cardiac defect

Treatment for the heart defect includes the following:

Appropriate surgical or nonsurgical correction of the heart defect is indicated and possible. A vast majority of atrial septal defects may be closed by transcatheter methods.
Palliative surgery, as indicated, if complete correction is not possible

Musculoskeletal defects

Treatment for musculoskeletal defects may include the following:

Take adequate measures to prevent acquired deformities and to treat existing deformities.
Surgical management of hand anomalies depends on the age, pattern, and degree of accompanying malformations of the upper limb.
Pollicization to improve function of index finger is recommended for patients with aplasia of the thumb. This is also recommended following amputation of a rudimental thumb.

Medication

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Media Gallery

Photograph showing hypoplastic right thumb of the right hand of a 6-month-old infant with Holt-Oram syndrome.
Photograph of the left hand of a 6-month-old infant with Holt-Oram syndrome showing total aplasia of the left thumb.
Plain radiograph of the right forearm and hand of a 5-month-old infant with Holt-Oram syndrome showing hypoplastic radius and ulna and only 4 metacarpals.
A 2-dimensional echocardiographic picture taken from subxiphoid window showing a large secundum atrial septal defect (arrow) in a 7-year-old boy with Holt-Oram syndrome. ASD = Atrial septal defect; RA = Right atrium; RV = Right ventricle; LA = Left atrium; LV = Left ventricle.
Color Doppler echocardiographic picture taken from subxiphoid window showing the large left-to-right flow of blood (arrow) across the atrial septal defect. The red color pattern depicts flow direction from left atrium (LA) to right atrium (RA). ASD = Atrial septal defect; RA = Right atrium; RV = Right ventricle; LA = Left atrium; LV = Left ventricle.

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Pediatric Holt-Oram Syndrome Treatment & Management

Medical Care

Acute-stage management in patients with Holt-Oram syndrome

Consultations

Transfer

Diet and activity

Outpatient monitoring

Surgical Care

Cardiac defect

Musculoskeletal defects

Long-Term Monitoring

Pediatric Holt-Oram Syndrome Treatment & Management

Medical Care

Acute-stage management in patients with Holt-Oram syndrome

Consultations

Transfer

Diet and activity

Outpatient monitoring

Surgical Care

Cardiac defect

Musculoskeletal defects

Long-Term Monitoring

References

Tables

Contributor Information and Disclosures

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