eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Holt-Oram Syndrome: Follow-up

Author: Poothirikovil Venugopalan, MBBS, MD, FRCP (Glasg), FRCPCH, Consulting Staff, Department of Child Health, University Hospital of Hartlepool, UK
Contributor Information and Disclosures

Updated: Nov 7, 2008

Follow-up

Further Inpatient Care

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

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.

Inpatient & Outpatient Medications

  • Administer medications as dictated by the heart disease.

Transfer

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

Deterrence/Prevention

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

Complications

  • Complications secondary to heart disease and heart failure: Tachyarrhythmia 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

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.

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.

Miscellaneous

Medicolegal Pitfalls

  • Failure to identify Holt-Oram syndrome (HOS)
  • Failure to perform a cardiovascular evaluation in children with limb anomalies, even if they are minor
  • Failure to inform parents about the hereditary nature of the disease and the risk of recurrence
  • Failure to inform parents that the syndrome may be associated with complex heart disease

Special Concerns

  • Among others, family doctors and schoolteachers should be informed of the limb deformity and the heart disease.
  • Identification of a skeletal abnormality suggestive of HOS in a pregnant woman should prompt careful examination with fetal ultrasonography. Similarly, if routine fetal ultrasonography reveals suggestive skeletal abnormalities, careful fetal echocardiography is indicated. Routine neonatal echocardiography should be performed in newborns not previously suspected to have HOS but who, after birth, demonstrate skeletal abnormalities suggestive of HOS.
 


More on Holt-Oram Syndrome

Overview: Holt-Oram Syndrome
Differential Diagnoses & Workup: Holt-Oram Syndrome
Treatment & Medication: Holt-Oram Syndrome
Follow-up: Holt-Oram Syndrome
Multimedia: Holt-Oram Syndrome
References
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Further Reading

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Keywords

Holt-Oram syndrome, HOS, embryonic radial ray, triphalangeal thumbs, absent thumbs, foreshortened arms, phocomelia, TBX5, atriodigital hypoplasia, cardiac-limb syndrome, cardiomelic syndrome, heart-hand syndrome, upper limb–cardiovascular syndrome, ventricular septal defect, VSD, atrial septal defect, ASD

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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 Hartlepool, UK
Poothirikovil Venugopalan, MBBS, MD, FRCP (Glasg), FRCPCH is a member of the following medical societies: British Cardiac Society and Royal College of Physicians and Surgeons of Glasgow
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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.

CME Editor

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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