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Sections Tetralogy of Fallot (TOF) in Adults
Overview
Presentation
DDx
Workup
Treatment
Guidelines
Medication
Questions & Answers
Media Gallery
References

Workup

Approach Considerations

See also the Guidelines section for the 2018 American Heart Association/American College of Cardiology (AHA/ACC) recommendations for the management of adults with tetralogy of Fallot.

Laboratory studies

Laboratory studies that may be helpful in the evaluation of adult patients with tetralogy of Fallot (TOF) include the following:

Complete blood cell (CBC) count: Some patients may have a mild anemia, but if cyanosis is absent, polycythemia is rare.
Coagulation profile: This may be abnormal in patients with cyanosis and bleeding.
Arterial blood gas (including serum lactate, base excess, oxygen partial pressure [PO₂]): The patient's oxygenation status, serum lactate levels, and base excess value appear to be prognostic markers for mortality in those undergoing surgical repair of tetralogy of Fallot.^[4]
Blood cultures: Obtain blood cultures in febrile patients to rule out endocarditis or sepsis.

Electrocardiography

The electrocardiogram (ECG) will usually show the presence of right ventricular (RV) hypertrophy with a right bundle branch block. The longer the QRS interval, the larger will be the RV mass and volume. Furthermore, when the QRS interval is longer than 180 milliseconds (ms), it is a significant marker for the development of ventricular arrhythmias and sudden death.^[22]

Another ECG feature that is also known to predict the risk for ventricular arrhythmias and sudden death is the rate of change in the QRS interval. A relatively fast increase (>3.5 ms/year) is associated with a higher risk of death. A rapid change in the rate of change is also a significant event in the absence of prolongation of the QRS interval. Finally, variation in the heart rate is also a marker for sudden death in these patients.^[22]

In other patients, the ECG will reveal atrial tachycardia or atrial fibrillation.

Cardiac catherization

When adults with tetralogy of Fallot (TOF) present, the initial study of choice is usually echocardiography. However, in some cases, cardiac catheterization is needed to assess the pressures in the right ventricle and pulmonary artery, the location and size of the ventricular septal defect, and the status of the pulmonary vessels. Cardiac catheterization is also necessary when the cardiac anatomy cannot be completely defined by echocardiography, when disease in the pulmonary arteries is a concern, and if an anomalous coronary artery or pulmonary hypertension is suspected.

Imaging Studies

Imaging studies used in the evaluation of tetralogy of Fallot (TOF) includechest radiographs, magnetic resonance imaging (MRI), and echocardiography.

Radiography

The chest x-ray may be normal, or it may show cardiomegaly and prominent right ventricular (RV) shadowing. Although the hallmark of tetralogy of Fallot in infants is the classic boot-shaped heart (coeur en sabot) (see the following image), in which diminished vascularity in the lungs and diminished prominence of the pulmonary arteries become apparent, this classic shape of the heart is not always seen in adults with tetralogy of Fallot.

An uplifted apex and absence of pulmonary artery segment typifies the "coeur en sabot" (ie, boot-shaped heart) of tetralogy of Fallot.

View Media Gallery

Echocardiography

Color-flow echocardiography is always obtained in adult patients tetralogy of Fallot to assess the overall cardiac function and the status of the valves, and for the presence of any residual ventricular septal defect (VSD), ductus arterosus, or atrial septal defect. Note that although echocardiography can assess the valvular anatomy, it is unable to visualize the coronary anatomy in the adult patient. This imaging modality is also able to reveal the grade and severity of any RV outflow tract (RVOT) obstruction.

Magnetic resonance imaging

MRI has become the gold standard for assessing the RV function and size, as well as for quantifying the pulmonary regurgitant volume. When a problem with the pulmonary valve is suspected, MRI is the first test of choice. This imaging modality can map the velocity of pulmonary regurgitation and provides good delineation of the aorta size as well as assessment of the pulmonary arteries, the status of the RVOT, and the presence of VSDs and/or RV hypertrophy.^[5] MRI can also measure intracardiac pressures, gradients, and blood flows.

MRI is quite sensitive at detecting branch pulmonary artery stenosis, which may be contributing to the increasing pulmonary valve insufficiency and the formation of aortopulmonary collaterals. These findings are more common in those with tetralogy of Fallot who have pulmonary atresia.^{[23, 24]}

Screening

Some pediatric cardiology centers specialize in looking after patients with tetralogy of Fallot. They recommend a baseline MRI of the the heart, even in the absence of symptoms. The results can then be used to monitor the patient for any changes every 3-7 years.

Treatment & Management

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Media Gallery

Anatomic findings in tetralogy of Fallot are depicted.
This is a typical preoperative electrocardiogram (ECG) for tetralogy of Fallot.
Typical findings on postoperative electrocardiogram (ECG) for tetralogy of Fallot are shown.
An uplifted apex and absence of pulmonary artery segment typifies the "coeur en sabot" (ie, boot-shaped heart) of tetralogy of Fallot.
This angiogram shows a catheter in the right ventricle—severe infundibular stenosis.
This image shows completed blocking with a Taussig shunt.
An opening in the right ventricle exposes the ventricular septal defect.
Interrupted pledgetted sutures are used to close a ventricular septal defect.
This image shows a closed ventricular septal defect and closure of right ventriculotomy with Gore-Tex.
Gore-Tex is used for complete closure of right ventriculotomy.
Melody pulmonary valve.

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Author

Shabir Bhimji, MD, PhD Cardiothoracic and Vascular Surgeon, Saudi Arabia and Middle East Hospitals

Shabir Bhimji, MD, PhD is a member of the following medical societies: American Cancer Society, American College of Chest Physicians, American Lung Association, Texas Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Mary C Mancini, MD, PhD, MMM Surgeon-in-Chief and Director of Cardiothoracic Surgery, Christus Highland

Mary C Mancini, MD, PhD, MMM is a member of the following medical societies: American Association for Thoracic Surgery, American College of Surgeons, American Surgical Association, Phi Beta Kappa, Society of Thoracic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Yasmine S Ali, MD, FACC, FACP, MSCI Assistant Clinical Professor of Medicine, Vanderbilt University School of Medicine; President, LastSky Writing, LLC

Yasmine S Ali, MD, FACC, FACP, MSCI is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Heart Association, American Medical Association, American Medical Writers Association, National Lipid Association, Tennessee Medical Association

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: MCG Health, LLC; LastSky Writing, LLC; Philips Healthcare; Cardiac Profiles, Inc.; Corvidane; M Health; GE Healthcare; Athena Health; PeerView Institute; Verywell Health; HealthCentral.

Acknowledgements

David FM Brown, MD Associate Professor, Division of Emergency Medicine, Harvard Medical School; Vice Chair, Department of Emergency Medicine, Massachusetts General Hospital

David FM Brown, MD is a member of the following medical societies: American College of Emergency Physicians and Society for Academic Emergency Medicine

Disclosure: lippincott Royalty textbook royalty; wiley Royalty textbook royalty

David A Donson, MD Assistant Medical Director, Department of Emergency Medicine, Maimonides Medical Center

David A Donson, MD is a member of the following medical societies: American College of Emergency Physicians and Society for Academic Emergency Medicine

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Theodore J Gaeta, DO, MPH, FACEP Clinical Associate Professor, Department of Emergency Medicine, Weill Cornell Medical College; Vice Chairman and Program Director of Emergency Medicine Residency Program, Department of Emergency Medicine, New York Methodist Hospital; Academic Chair, Adjunct Professor, Department of Emergency Medicine, St George's University School of Medicine

Theodore J Gaeta, DO, MPH, FACEP is a member of the following medical societies: Alliance for Clinical Education, American College of Emergency Physicians, Clerkship Directors in Emergency Medicine, Council of Emergency Medicine Residency Directors, New York Academy of Medicine, and Society for Academic Emergency Medicine

Disclosure: Nothing to disclose.

Ronald J Oudiz, MD, FACP, FACC, FCCP Professor of Medicine, University of California, Los Angeles, David Geffen School of Medicine; Director, Liu Center for Pulmonary Hypertension, Division of Cardiology, LA Biomedical Research Institute at Harbor-UCLA Medical Center

Ronald J Oudiz, MD, FACP, FACC, FCCP is a member of the following medical societies: American College of Cardiology, American College of Chest Physicians, American College of Physicians, American Heart Association, and American Thoracic Society

Disclosure: Actelion Grant/research funds Clinical Trials + honoraria; Ikaria Grant/research funds Clinical Trials + honoraria; Gilead Grant/research funds Clinical Trials + honoraria; Pfizer Grant/research funds Clinical Trials + honoraria; United Therapeutics Grant/research funds Clinical Trials + honoraria; Lilly Grant/research funds Clinical Trials + honoraria; Lung LLC Clinical Trials + honoraria; Bayer Grant/research funds Consulting; Medtronic Consulting fee Consulting; Novartis Consulting fee Consulting

Kurt Pflieger, MD, FAAP Active Staff, Department of Pediatrics, Lake Pointe Medical Center

Kurt Pflieger, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Emergency Physicians, American Heart Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Gary Edward Sander, MD, PhD, FACC, FAHA, FACP, FASH Professor of Medicine, Director of CME Programs, Team Leader, Root Cause Analysis, Tulane University Heart and Vascular Institute; Director of In-Patient Cardiology, Tulane Service, University Hospital; Visiting Physician, Medical Center of Louisiana at New Orleans; Faculty, Pennington Biomedical Research Institute, Louisiana State University; Professor, Tulane University School of Medicine

Gary Edward Sander, MD, PhD, FACC, FAHA, FACP, FASH is a member of the following medical societies: Alpha Omega Alpha, American Chemical Society, American College of Cardiology, American College of Chest Physicians, American College of Physicians, American Federation for Clinical Research, American Federation for Medical Research, American Heart Association, American Society for Pharmacology and Experimental Therapeutics, American Society of Hypertension,American Thoracic Society, Heart Failure Society of America, Louisiana State Medical Society, National Lipid Association, and Southern Society for Clinical Investigation

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Gary Setnik, MD Chair, Department of Emergency Medicine, Mount Auburn Hospital; Assistant Professor, Division of Emergency Medicine, Harvard Medical School

Gary Setnik, MD is a member of the following medical societies: American College of Emergency Physicians, National Association of EMS Physicians, and Society for Academic Emergency Medicine

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Mark Spektor, DO Medical Director, Department of Emergency Medicine, Maimonides Medical Center

Mark Spektor, DO is a member of the following medical societies: American College of Emergency Physicians, American College of Physician Executives, and Society for Academic Emergency Medicine

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Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Sections Tetralogy of Fallot (TOF) in Adults
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