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 CT angiography or MRI
- cardiac catheterisation
Treatment algorithm
hypercyanotic spells
neonate with profound cyanosis and severely limited pulmonary blood flow
neonate or infant with non-remitting severe cyanosis
all patients
Contributors
Authors
Jeffrey Gossett, MD
Vice President and System Chief of Pediatric Cardiology
Professor of Pediatrics
Division of Pediatric Cardiology
Cohen Children’s Medical Center, Northwell Health
New Hyde Park
NY
Disclosures
JG declares that he has no competing interests.
Acknowledgements
Dr Jeffrey Gossett would like to gratefully acknowledge Dr Anna Kamp, a previous contributor to this topic.
Disclosures
AK declares that she has no competing interests.
Peer reviewers
Adam B. Christopher, MD
Assistant Professor of Pediatrics
Director of Cardiac MRI
UPMC Children's Hospital of Pittsburgh
Pittsburgh
PA
Disclosures
ABC declares that he has no competing interests.
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
- ACR Appropriateness Criteria: congenital or acquired heart disease
- Management and re-interventional therapy in patients with congenital heart disease long-term after initial repair
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