Last reviewed: November 2017
Last updated: November  2017

Summary

Definition

History and exam

Key diagnostic factors

  • hypercyanotic episodes
  • harsh systolic ejection murmur
  • cyanosis
  • tachypnoea

Risk factors

  • trisomy 21, 18, or 13
  • chromosome 22q11 deletions (DiGeorge's syndrome)
  • Jagged1 gene mutations (Alagille's syndrome)
  • mutation in NKX2.5 gene
  • environmental factors
  • family history of congenital heart disease

Diagnostic investigations

1st investigations to order

  • pulse oximetry
  • echocardiogram
  • ECG
  • CXR
  • hyper-oxygenation test
Full details

Investigations to consider

  • cardiac catheterisation
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Jeffrey Gossett

Director of Heart Failure, Heart Transplantation

Professor of Pediatrics

Division of Pediatric Cardiology

University of California, San Francisco

San Francisco

CA

Disclosures

JG declares that he has no competing interests.

Anna Kamp

Assistant Professor

University of Kentucky

Lexington

KY

Disclosures

AK declares that she has no competing interests.

Peer reviewers VIEW ALL

Clinical Assistant Professor of Pediatrics

University of Michigan

Ann Arbor

MI

Disclosures

RA declares that he has no competing interests.

Deputy Director

Department of Cardiology

Royal Children's Hospital

Melbourne

Australia

Disclosures

MC declares that he has no competing interests.

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