Summary
Definition
History and exam
Key diagnostic factors
- hypercyanotic episodes
- harsh systolic ejection murmur
- cyanosis
- tachypnoea
Other diagnostic factors
- shock
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
Investigations to consider
- cardiac catheterisation
Treatment algorithm
hypercyanotic spells
infant with non-remitting severe cyanosis
neonate with profound cyanosis and severely limited pulmonary blood flow
all patients
Contributors
Authors
Jeffrey Gossett, MD

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, MD, MPH

Assistant Professor
Nationwide Children’s Hospital
Columbus
OH
Disclosures
AK declares that she has no competing interests.
Peer reviewers
Ranjit Aiyagari, MD
Clinical Assistant Professor of Pediatrics
University of Michigan
Ann Arbor
MI
Disclosures
RA declares that he has no competing interests.
Michael Cheung, BSc, MBChB, MD
Deputy Director
Department of Cardiology
Royal Children's Hospital
Melbourne
Australia
Disclosures
MC declares that he has no competing interests.
Differentials
- Other cyanotic congenital cardiac abnormalities
- Pulmonary stenosis
- Ventricular septal defect (VSD)
More DifferentialsGuidelines
- ESC guidelines for the management of adult congenital heart disease (previously grown-up congenital heart disease)
- 2018 AHA/ACC guidelines for the management of adults with congenital heart disease
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