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Last reviewed: 18 Mar 2025
Last updated: 06 Aug 2024

Summary

Definition

History and exam

Key diagnostic factors

  • systolic ejection murmur
  • fixed splitting of the second heart sound

Other diagnostic factors

  • presence of risk factors
  • mid-diastolic murmur
  • congestive cardiac failure
  • faltering growth
  • symptoms of atrial arrhythmias
  • cyanosis
  • finger clubbing

Risk factors

  • female sex
  • maternal alcohol consumption
  • positive family history

Diagnostic investigations

1st investigations to order

  • echocardiogram
  • ECG
  • chest x-ray

Investigations to consider

  • pulse oximetry
  • chest CT/MRI
  • cardiac catheterisation

Treatment algorithm

Contributors

Authors

Christoph Haller, MD

Staff Cardiovascular Surgeon

Division of Cardiovascular Surgery

Labatt Family Heart Centre

The Hospital for Sick Children

Assistant Professor

University of Toronto

Toronto

Canada

Disclosures

CH declares that he has no competing interests.

Acknowledgements

Dr Christoph Haller would like to gratefully acknowledge Dr Sachin Khambadkone, Dr Brandon Lane Phillips, Dr Frank Cetta, and Dr David J. Driscoll, previous contributors of this topic.

Disclosures

SK, BLP, FC, and DJD declare that they have no competing interests.

Peer reviewers

Chawki Elzein, MD

Professor of Surgery

University of Illinois at Chicago

Advocate Children's Hospital

Chicago

IL

Disclosures

CE declares that he has no competing interests.

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