When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Tetralogy of Fallot

Last reviewed: 9 Apr 2025
Last updated: 12 Jul 2024

Summary

Definition

History and exam

Key diagnostic factors

  • hypercyanotic episodes
  • harsh systolic ejection murmur
  • cyanosis
  • tachypnea
Full details

Other diagnostic factors

  • shock
Full details

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
Full details

Diagnostic tests

1st tests to order

  • pulse oximetry
  • echocardiogram
  • ECG
  • CXR
  • hyperoxygenation test
Full details

Tests to consider

  • cardiac CT angiography or MRI
  • cardiac catheterization
Full details

Treatment algorithm

ACUTE

hypercyanotic spells

neonate with profound cyanosis and severely limited pulmonary blood flow

neonate or infant with nonremitting severe cyanosis

ONGOING

all patients

Contributors

Authors

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

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.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Valente AM, Cook S, Festa P, et al. Multimodality imaging guidelines for patients with repaired tetralogy of Fallot: a report from the American Society of Echocardiography: developed in collaboration with the Society for Cardiovascular Magnetic Resonance and the Society for Pediatric Radiology. J Am Soc Echocardiogr. 2014 Feb;27(2):111-41. Abstract

Hirsch JC, Mosca RS, Bove EL. Complete repair of tetralogy of Fallot in the neonate: results in the modern era. Ann Surg. 2000 Oct;232(4):508-14.Full text  Abstract

Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC guidelines for the management of infective endocarditis. Eur Heart J. 2015 Nov 21;36(44):3075-128.Full text  Abstract

Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines. Circulation. 2019 Apr 2;139(14):e698-800.Full text  Abstract

Lui GK, Saidi A, Bhatt AB, et al. Diagnosis and management of noncardiac complications in adults with congenital heart disease: a scientific statement from the American Heart Association. Circulation. 2017 Nov 14;136(20):e348-92.Full text  Abstract

Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J. 2021 Feb 11;42(6):563-645.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • 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
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer