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Last reviewed: 20 Mar 2025
Last updated: 07 Jun 2024

Summary

Definition

History and exam

Key diagnostic factors

  • systolic murmur left parasternal region
  • faltering growth
  • shortness of breath

Other diagnostic factors

  • recurrent pulmonary infections
  • loud pulmonary component of the second heart sound
  • cyanosis
  • finger clubbing
  • recent myocardial infarction (usually within 3 to 5 days)
  • recent trauma

Risk factors

  • family history of congenital heart disease
  • Down syndrome (trisomy 21)
  • maternal alcohol consumption during pregnancy
  • maternal cigarette smoking during pregnancy

Diagnostic tests

1st tests to order

  • echocardiography
  • chest x-ray
  • ECG

Tests to consider

  • cardiac MRI
  • cardiac CT scan
  • cardiac catheterization

Treatment algorithm

Contributors

Authors

Kul Aggarwal, MD, MRCP, FACC
Kul Aggarwal

Professor of Clinical Medicine

University of Missouri

Columbia

MO

Disclosures

KA declares that he has no competing interests.

Acknowledgements

Dr Kul Aggarwal would like to gratefully acknowledge Professor Zuhdi Lababidi, a previous contributor to this topic.

Disclosures

ZL declares that he has no competing interests.

Peer reviewers

Michael Cheung, BSc (Hons), MB ChB, MRCP, FRACP

Acting Head

Department of Cardiology

Royal Children's Hospital

Melbourne

Australia

Disclosures

MC declares that he has no competing interests.

Sachin Khambadkone, MD, DCH, DNB

Consultant Paediatric Cardiologist and Honorary Senior Lecturer

Great Ormond Street Hospital and Institute of Child Health

London

UK

Disclosures

SK declares that he has no competing interests.

Tain-Yen Hsia, MD

Attending Pediatric Cardiothoracic Surgeon

Medical University of South Carolina Children's Hospital

Charleston

SC

Disclosures

TYH declares that he has no competing interests.

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