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Last reviewed: 18 Mar 2025
Last updated: 04 Jun 2024

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • presentation in infancy

Other diagnostic factors

  • tachypnoea/shortness of breath (SOB)
  • failure to thrive
  • exercise intolerance
  • widened pulse pressure
  • machine-like continuous murmur/Gibson murmur in children born at full-term
  • apnoea
  • low diastolic blood pressure (BP)
  • irritability
  • diaphoresis
  • increased respiratory symptoms with upper respiratory tract infection
  • murmur heard only during systole
  • hyperdynamic precordium
  • systolic thrill
  • third heart sound heard at apex
  • mid-diastolic rumble heard at apex
  • bounding peripheral pulses
  • pulmonary rales

Risk factors

  • prematurity
  • maternal rubella
  • female sex
  • respiratory distress syndrome (RDS)
  • high altitude
  • family history
  • black race

Diagnostic investigations

1st investigations to order

  • chest x-ray
  • ECG
  • echocardiogram

Investigations to consider

  • cardiac catheterisation and angiography

Treatment algorithm

Contributors

Authors

Kenneth M. Coca, MD

Pediatric Resident

Johns Hopkins All Children’s Hospital

Saint Petersburg

FL

Disclosures

KMC declares that he has no competing interests.

Joyce T. Johnson, MD, MS

Director, Fetal Cardiology

Johns Hopkins All Children’s Hospital

Saint Petersburg

FL

Disclosures

JTJ declares that she has no competing interests.

Nelangi M. Pinto, MD

Associate Professor, Pediatrics

University of Washington

Seattle Children’s Hospital

Seattle

WA

Disclosures

NMP declares that she has no competing interests.

Acknowledgements

Dr Kenneth M. Coca, Dr Joyce T. Johnson, and Dr Nelangi M. Pinto would like to gratefully acknowledge Dr Anji T. Yetman, a previous contributor to this topic.

Disclosures

ATY declares that she 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.

Rajat Bhatt, MD

Assistant Professor

Internal Medicine

Texas Tech University Health Sciences Center (TTUHSC)

Lubbock

TX

Disclosures

RB declares that he has no competing interests.

Henry M. Sondheimer, MD

Professor of Pediatrics

Clinical Director

Pediatric Cardiology

The Children's Hospital

Denver

CO

Disclosures

HMS declares that he has no competing interests.

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