Tetralogy of Fallot

Last reviewed: 26 Apr 2022
Last updated: 10 Mar 2020

Summary

Definition

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)
  • Jagged1gene 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 catheterization
More investigations to consider

Treatment algorithm

ACUTE

hypercyanotic spells

infant with nonremitting severe cyanosis

neonate with profound cyanosis and severely limited pulmonary blood flow

ONGOING

all patients

Contributors

Authors

Jeffrey Gossett, MD
Jeffrey Gossett

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
Anna Kamp

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.

  • Tetralogy of Fallot images
  • Differentials

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

    • 2018 AHA/ACC guidelines for the management of adults with congenital heart disease
    • Diagnosis and management of noncardiac complications in adults with congenital heart disease
    More Guidelines
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