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Tetralogy of Fallot

Last reviewed: 5 Sep 2023
Last updated: 18 Jul 2023



History and exam

Key diagnostic factors

  • hypercyanotic episodes
  • harsh systolic ejection murmur
  • cyanosis
  • tachypnea
More key diagnostic factors

Other diagnostic factors

  • shock
Other diagnostic factors

Risk factors

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

Diagnostic investigations

1st investigations to order

  • pulse oximetry
  • echocardiogram
  • ECG
  • CXR
  • hyperoxygenation test
More 1st investigations to order

Investigations to consider

  • cardiac CT angiography or MRI
  • cardiac catheterization
More investigations to consider

Treatment algorithm


hypercyanotic spells

neonate with profound cyanosis and severely limited pulmonary blood flow

neonate or infant with nonremitting severe cyanosis


all patients



Jeffrey Gossett, MD
Jeffrey Gossett

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



JG declares that he has no competing interests.


Dr Jeffrey Gossett would like to gratefully acknowledge Dr Anna Kamp, a previous contributor to this topic.


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




ABC declares that he has no competing interests.

Ranjit Aiyagari, MD

Clinical Assistant Professor of Pediatrics

University of Michigan

Ann Arbor



RA declares that he has no competing interests.

Michael Cheung, BSc, MBChB, MD

Deputy Director

Department of Cardiology

Royal Children's Hospital




MC declares that he has no competing interests.

  • Tetralogy of Fallot images
  • Differentials

    • Other cyanotic congenital cardiac abnormalities
    • Pulmonary stenosis
    • Ventricular septal defect (VSD)
    More Differentials
  • Guidelines

    • ACR Appropriateness Criteria: congenital or acquired heart disease
    • Recommendations for the adult cardiac sonographer performing echocardiography to screen for critical congenital heart disease in the newborn
    More Guidelines
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