Pediatric Holt-Oram Syndrome Follow-up

  • Author: Poothirikovil Venugopalan, MBBS, MD, FRCP(Glasg), FRCPCH; Chief Editor: Steven R Neish, MD, SM   more...
 
Updated: Jun 23, 2010
 

Further Inpatient Care

  • Care may be necessary with exacerbations of heart failure, for interventional procedures, or for surgical correction of heart disease.
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Further Outpatient Care

  • 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.
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Inpatient & Outpatient Medications

  • Administer medications as dictated by the heart disease.
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Transfer

  • Transfer may be necessary for further evaluation and surgical intervention.
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Deterrence/Prevention

  • Avoid activity beyond tolerance.
  • Avoid postures that might lead to deformities.
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Complications

  • Complications secondary to heart disease and heart failure: Tachyarrhythmia, especially atrial fibrillation[10, 11] and conduction abnormalities place patients at special risk during anesthetic procedures.
  • Complications secondary to limb malformation
    • Secondary to interventions that may be required
    • Contractures and deformity
  • Psychological problems secondary to disability
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Prognosis

  • Prognosis is dictated by the severity and type of cardiac and limb malformations.
  • A scoring system to assess severity has been recommended by Gall et al and modified by Gladstone and Sybert. This information is provided in the Physical section.
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Patient Education

  • Parents and patients should understand the various manifestations and should undergo genetic counseling.
    • In any child with ASD, the patient and parents should be carefully examined for limb malformations, and a family history should be studied in detail.
    • Detection of subtle limb defect alters the recurrence risk in offspring from the empirical risk of an isolated ASD (3%) to that for an autosomal dominant trait (50%).
  • Prenatal counseling
    • Prospective parents should be alerted to the fact that a child born with HOS to an affected parent has a 1 in 3 chance of having a severe reduction abnormality of the upper limb, with a 1 in 22 risk of phocomelia.
    • If an ASD is present, the risk of serious limb abnormality is greater than if a VSD or conduction defect occurs alone.
    • Severity is likely to be greater if the transmitting parent is female.
    • The detection of a severe reduction defect before or after birth indicates a high probability of an associated structural cardiac lesion.
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Contributor Information and Disclosures
Author

Poothirikovil Venugopalan, MBBS, MD, FRCP(Glasg), FRCPCH,  Consulting Staff, Department of Child Health, University Hospital of North Tees and Hartlepool, UK

Poothirikovil Venugopalan, MBBS, MD, FRCP(Glasg), FRCPCH, is a member of the following medical societies: British Cardiac Society, Paediatrician with Cardiology Expertise Special Interest Group, Royal College of Paediatrics and Child Health, and Royal College of Physicians and Surgeons of Glasgow

Disclosure: Nothing to disclose.

Specialty Editor Board

Ira H Gessner, MD  Professor Emeritus, Pediatric Cardiology

Ira H Gessner, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Pediatric Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John W Moore, MD, MPH  Professor of Clinical Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, University of California San Diego School of Medicine; Director of Cardiology, Rady Children's Hospital

John W Moore, MD, MPH is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Steven R Neish, MD, SM  Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine

Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association

Disclosure: Nothing to disclose.

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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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