Last reviewed: 24 Jan 2021
Last updated: 10 Mar 2020
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
Treatment algorithm
Contributors
Authors

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.

Assistant Professor
Nationwide Children’s Hospital
Columbus
OH
Disclosures
AK declares that she has no competing interests.
Peer reviewers
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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