Tetralogy of Fallot Clinical Presentation

  • Author: Shabir Bhimji, MD, PhD; Chief Editor: Park W Willis IV, MD   more...
 
Updated: May 7, 2012
 

History

The clinical features of tetralogy of Fallot (TOF) are directly related to the severity of the anatomic defects. Most infants with tetralogy of Fallot have difficulty with feeding, and failure to thrive (FTT) is commonly observed. Infants with pulmonary atresia may become profoundly cyanotic as the ductus arteriosus closes unless bronchopulmonary collaterals are present. Occasionally, some children have just enough pulmonary blood flow and do not appear cyanotic; these individuals remain asymptomatic, until they outgrow their pulmonary blood supply.

At birth, some infants with tetralogy of Fallot do not show signs of cyanosis, but they may later develop episodes of bluish pale skin during crying or feeding (ie, "Tet" spells). Hypoxic tet spells are potentially lethal, unpredictable episodes that occur even in noncyanotic patients with tetralogy of Fallot. The mechanism is thought to include spasm of the infundibular septum, which acutely worsens the right ventricular (RV) outflow tract obstruction (RVOTO). These spells can be aborted with relatively simple procedures.

A characteristic fashion in which older children with tetralogy of Fallot increase pulmonary blood flow is to squat. Squatting is a compensatory mechanism, of diagnostic significance, and highly typical of infants with tetralogy of Fallot. Squatting increases peripheral vascular resistance (PVR) and thus decreases the magnitude of the right-to-left shunt across the ventricular septal defect (VSD). Exertional dyspnea usually worsens with age. Occasionally, hemoptysis due to rupture of the bronchial collaterals may result in the older child.

The rare patient may remain marginally and imperceptibly cyanotic, or acyanotic and asymptomatic, into adult life.

Cyanosis generally progresses with age and outgrowth of pulmonary vasculature and demands surgical repair. The following factors can worsen cyanosis in infants with tetralogy of Fallot:

  • Acidosis
  • Stress
  • Infection
  • Posture
  • Exercise
  • Beta-adrenergic agonists
  • Dehydration
  • Closure of the ductus arteriosus

The predominant shunt is from right to left with flow across the VSD into the left ventricle (LV), which produces cyanosis and an elevated hematocrit value. When the pulmonary stenosis is mild, bidirectional shunting may occur. In some patients, the infundibular stenosis is minimal, and the predominant shunt is from left to right, producing what is called a pink tetralogy. Although such patients may not appear cyanotic, they often have oxygen desaturation in the systemic circulation.

Symptoms generally progress secondary to hypertrophy of the infundibular septum. Worsening of the RVOTO leads to RV hypertrophy, increased right-to-left shunting, and systemic hypoxemia.

Next

Physical Examination

Most infants with tetralogy of Fallot (TOF) are smaller than expected for age. Cyanosis of the lips and nail bed is usually pronounced at birth; after age 3-6 months, the fingers and toes show clubbing.

A systolic thrill is usually present anteriorly along the left sternal border. A harsh systolic ejection murmur (SEM) is heard over the pulmonic area and left sternal border. When the right ventricular (RV) outflow tract obstruction (RVOTO) (eg, from pulmonary atresia) is moderate, the murmur may be inaudible (more cyanotic patients have greater obstruction and a softer murmur). The S2 is usually single (the pulmonic valve closure is not heard). During cyanotic episodes, murmurs may disappear, which is suggestive of lessened RV outflow to the pulmonary arteries. In individuals with aortopulmonary collaterals, continuous murmurs may be auscultated. Thus, an acyanotic patient with tetralogy of Fallot (pink tet) has a long, loud, systolic murmur with a thrill along the RVOT

The following may also be noted:

  • RV predominance on palpation
  • May have a bulging left hemithorax
  • Aortic ejection click
  • Squatting position (compensatory mechanism)
  • Scoliosis (common)
  • Retinal engorgement
  • Hemoptysis
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Contributor Information and Disclosures
Author

Shabir Bhimji, MD, PhD  Locum 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, and Texas Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

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

Disclosure: SironaHealth Salary Management position; South Middlesex EMS Consortium Salary Management position; ProceduresConsult.com Royalty Other

Mary C Mancini, MD, PhD  Professor and Chief of Cardiothoracic Surgery, Department of Surgery, Louisiana State University School of Medicine in Shreveport

Mary C Mancini, MD, PhD 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, and Southern Surgical Association

Disclosure: Nothing to disclose.

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.

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Disclosure: Forest Labs Honoraria Speaking and teaching

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

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; Encysive 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; LungRx Clinical Trials + honoraria; Bayer Grant/research funds Consulting; Medtronic Consulting fee Consulting; Novartis Consulting fee Consulting

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: Nothing to disclose.

Chief Editor

Park W Willis IV, MD  Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine

Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors Mark Spektor, DO, and Kurt Pflieger, MD, FAAP, to the development and writing of the source article.

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Anatomic findings in tetralogy of Fallot.
Typical preoperative electrocardiogram (ECG) for tetralogy of Fallot.
Typical findings on postoperative electrocardiogram (ECG) for tetralogy of Fallot.
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 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.
 
 
 
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