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Last reviewed: 21 Apr 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.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Jone PN, Ivy DD, Hauck A, et al. Pulmonary hypertension in congenital heart disease: a scientific statement from the American Heart Association. Circ Heart Fail. 2023 Jul;16(7):e00080.Full text  Abstract

Baumgartner H, De Backer J, Babu-Narayan SV, et al; ESC Scientific Document Group. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J. 2021 Feb 11;42(6):563-645.Full text  Abstract

Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines. Circulation. 2019 Apr 2;139(14):e698-800.Full text  Abstract

Abrahamyan L, Dharma C, Alnasser S, et al. Long-term outcomes after atrial septal defect transcatheter closure by age and against population controls. JACC Cardiovasc Interv. 2021 Mar 8;14(5):566-75.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available here.

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