Tetralogy of Fallot With Absent Pulmonary Valve Workup

  • Author: Prema Ramaswamy, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Aug 8, 2011
 

Approach Considerations

Tetralogy of Fallot (TOF) with absent pulmonary valve can be accurately diagnosed based on fetal echocardiography findings. Galindo et al reported that many fetuses with absent pulmonary valve syndrome have an increased nuchal thickness in the first trimester; this may help with earlier recognition of the defect.[5] They also found the 22q11 microdeletion to be the most common associated karyotype anomaly, which was present in 21% of their patients.[5]

Obtain a hemogram (complete blood cell [CBC] count) to determine hemoglobin and hematocrit levels. In addition, an arterial blood gas (ABG) study can provide useful information in a sick infant.

Electrocardiography (ECG) demonstrates the presence of right ventricular hypertrophy (RVH) and greater left ventricular (LV) forces than typical for tetralogy of Fallot (some show actual LV enlargement). Right atrial enlargement may also be present.

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Radiologic Studies

Radiography, echocardiography, and magnetic resonance imaging (MRI) are imaging modalities that have been used in the evaluation of tetralogy of Fallot (TOF) with absent pulmonary valve.

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 (RV), 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 include the characteristic large ventricular septal defect (VSD), enlarged anteriorly displaced aorta, and RV hypertrophy.

The conal septum is displaced anteriorly, but the RV 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 RV, which is enlarged and demonstrates paradoxical septal motion.

Doppler echocardiography

Doppler echocardiography demonstrates turbulence through the RV outflow tract. Pulmonary regurgitation is readily identified, but ductus arteriosus is rare. Flow across the VSD is not turbulent, because the defect is large and unrestrictive. Flow is generally bidirectional.

Magnetic resonance imaging

An MRI may be used to obtain the above information and has the added advantage of lack of radiation exposure.

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Cardiac Catheterization and Angiography

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.

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Contributor Information and Disclosures
Author

Prema Ramaswamy, MD  Associate Professor of Clinical Pediatrics, State University of New York Downstate; Adjunct Assistant Clinical Professor of Pediatrics, St George's University School of Medicine; Co-Director of Pediatric Cardiology, Maimonides Medical Center, Lutheran Medical Center, and Coney Island Hospital

Prema Ramaswamy, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology

Disclosure: Nothing to disclose.

Specialty Editor Board

Ira H Gessner, MD  Professor Emeritus, Pediatric Cardiology, University of Florida College of Medicine

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.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

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.

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.

Additional Contributors

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

References

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Drawing showing absence of the pulmonary valve with features of tetralogy of Fallot. Note the small nubbins of tissue at the pulmonary valve annulus in the center of the drawing. Characteristic muscular right ventricular hypertrophy and infundibular pulmonary stenosis are present. A right aortic arch, a ventricular septal defect with overriding aortic valve, and massively dilated main and branch pulmonary arteries are present.
Pulmonary artery branching in a healthy person and in a patient with absent pulmonary valve syndrome.
 
 
 
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