eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Tetralogy of Fallot With Absent Pulmonary Valve: Differential Diagnoses & Workup

Author: Prema Ramaswamy, MD, Co-director of Pediatric Cardiology, Maimonides Medical Center; Assistant Professor, Department of Pediatrics, Mount Sinai School of Medicine
Coauthor(s): Kurt Pflieger, MD, FAAP, Active Staff, Department of Pediatrics, Lake Pointe Medical Center
Contributor Information and Disclosures

Updated: Jul 17, 2008

Differential Diagnoses

Other Problems to Be Considered

Absent pulmonary valve may occur in isolation without the presence of a ventricular septal defect. This rare anomaly usually causes severe distress at birth, especially when associated with a patent ductus arteriosus because it can result in severe right ventricular dysfunction.1

A pulmonary artery may arise directly from the aorta. Absence of the left pulmonary artery has been reported. A nonrestrictive ductus arteriosus is more likely to be present in this scenario.17

Workup

Laboratory Studies

  • Obtain a hemogram (CBC count) to determine hemoglobin and hematocrit levels.
  • An ABG study can provide useful information in a sick infant.

Imaging Studies

  • Chest radiography
    • Chest radiography usually reveals aneurysmally dilated central pulmonary arteries with otherwise normal peripheral pulmonary vascularity. Cardiomegaly results from dilation of the right ventricle, particularly its outflow tract (infundibulum).
    • Other pulmonary parenchymal abnormalities may be evident (eg, atelectasis, pneumonic infiltrate, lobar emphysema, hyperinflation). The air trapping may cause a herniation of a lobe.
    • A right aortic arch may be found in some patients.
  • Echocardiography
    • Echocardiography is usually diagnostic in this condition. Findings similar to those of tetralogy of Fallot (TOF) include the characteristic large ventricular septal defect, enlarged anteriorly displaced aorta, and right ventricular hypertrophy.
    • The conal septum is displaced anteriorly, but the right ventricular infundibulum is patent and may be dilated if the degree of pulmonic regurgitation is substantial.
    • The pulmonary annulus demonstrates some degree of hypoplasia, and pulmonary valve leaflets are not observed.
    • The pulmonic trunk (main pulmonary artery) and proximal right and left pulmonary arteries are dilated in proportion to the degree of pulmonic regurgitation. This is also true for the right ventricle, which is enlarged and demonstrates paradoxical septal motion.
    • Doppler echocardiography demonstrates turbulence through the right ventricular outflow tract. Pulmonary regurgitation is readily identified. Ductus arteriosus is rare. Flow across the ventricular septal defect is not turbulent because the defect is large and unrestrictive. Flow is generally bidirectional.

Other Tests

  • Electrocardiography
    • Right ventricular hypertrophy is present.
    • Patients demonstrate greater left ventricular forces than typical for TOF, and some show actual left ventricular enlargement.
    • Right atrial enlargement may also be present.

Procedures

  • Cardiac catheterization
    • Echocardiography in the typical patient provides all of the information necessary to plan surgical repair. Unusual anatomy or the presence of some complicating additional defects may suggest the need to perform catheterization in order to plan surgical intervention.
    • Abnormal pulmonary artery distribution and branching with possible peripheral pulmonary stenosis may be identified.
    • Catheterization may be appropriate in patients with absence of the left pulmonary artery or origin of a pulmonary artery directly from the aorta.
    • Right ventricular angiography demonstrates the stenotic pulmonic annulus with the dilated right and left pulmonary arteries. This has been called the "Mickey Mouse" appearance.

More on Tetralogy of Fallot With Absent Pulmonary Valve

Overview: Tetralogy of Fallot With Absent Pulmonary Valve
Differential Diagnoses & Workup: Tetralogy of Fallot With Absent Pulmonary Valve
Treatment & Medication: Tetralogy of Fallot With Absent Pulmonary Valve
Follow-up: Tetralogy of Fallot With Absent Pulmonary Valve
Multimedia: Tetralogy of Fallot With Absent Pulmonary Valve
References
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References

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Further Reading

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Keywords

tetralogy of Fallot, TOF, absent pulmonary valve syndrome, TOF with absent pulmonary valve, Fallot tetralogy, Fallot's tetralogy, Fallot tetrad, Fallot's tetrad, ventricular septal defect, infundibular pulmonary stenosis, pulmonary regurgitation, cyanotic heart disease, hypoxemia, heart failure, respiratory failure, patent ductus arteriosus

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Contributor Information and Disclosures

Author

Prema Ramaswamy, MD, Co-director of Pediatric Cardiology, Maimonides Medical Center; Assistant Professor, Department of Pediatrics, Mount Sinai School of Medicine
Prema Ramaswamy, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology
Disclosure: Nothing to disclose.

Coauthor(s)

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.

Medical Editor

Ira H Gessner, MD, Professor Emeritus, Pediatric Cardiology
Ira H Gessner, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Pediatric Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Julian M Stewart, MD, PhD, Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College
Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

CME Editor

Gilbert Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College
Gilbert Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD, Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin
Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

 
 
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