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Tetralogy of Fallot With Absent Pulmonary Valve Clinical Presentation

  • Author: Prema Ramaswamy, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
Updated: Nov 22, 2015


Symptoms are noted soon after birth in patients in whom fetal detection failed to reveal the condition. In early infancy, patients with tetralogy of Fallot (TOF) with absent pulmonary valve fall into 2 groups: those with severe respiratory problems in whom medical management fails in the first year of life and those with less severe respiratory symptoms.

In a fetus, severe pulmonary regurgitation may cause heart failure, and this may result in fetal hydrops and intrauterine death. It has been suggested that only fetuses in whom the ductus is restrictive or absent are able to survive to term.[1] In fetuses that survive to term, respiratory symptoms develop immediately after birth due to tracheal or bronchial obstruction.

Cyanosis may also present early because of the high pulmonary vascular resistance. Cyanosis usually does not progress as it does in typical tetralogy of Fallot in patients with an intact pulmonary valve. As the pulmonary vascular resistance (PVR) falls, the cyanosis decreases as the left-to-right shunt increases.


Physical Examination

Cyanosis, if present, is mild in most cases. The newborn may demonstrate more significant cyanosis because of both higher hemoglobin concentration and higher pulmonary vascular resistance (PVR). Stenosis can predominate in patients with a significantly hypoplastic pulmonic annulus. Such patients, therefore, demonstrate more cyanosis.

Respiratory distress may be evident with variable auscultatory findings consistent with atelectasis, hyperinflation, or consolidation.

Congestive heart failure (CHF) evidenced by increased heart rate, respiratory rate, hepatomegaly, and cardiomegaly, with an increase in the pulmonary blood flow, is noted after the normal fall in the PVR.

The precordium is hyperactive with a right ventricular lift.

Cardiac auscultation

The first heart sound is normal. The second sound is single because of the absence of the pulmonic component. The aortic component may be accentuated.

The murmur in this condition is characteristic and is a systolic and diastolic (to-and-fro) murmur best heard in the pulmonic area. The murmur is rough in quality and radiates widely over the lung fields. A short pause between the systolic and diastolic components is noted; this helps differentiate this murmur from that of a patent ductus arteriosus.

Contributor Information and Disclosures

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

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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, American Autonomic Society, American Physiological Society

Disclosure: Received grant/research funds from Lundbeck Pharmaceuticals for none.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical.

Additional Contributors

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, Society for Pediatric Research

Disclosure: Nothing to disclose.


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.

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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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