Tetralogy of Fallot With Pulmonary Atresia Clinical Presentation

  • Author: Michael D Pettersen, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Aug 23, 2011
 

History and Physical Examination

Clinical presentation in tetralogy of Fallot with pulmonary atresia (TOF-PA) depends on the source and volume of pulmonary blood flow. This usually occurs via the ductus arteriosus and/or aortopulmonary collaterals.

Infants and older children

The newborn infant, in whom the ductus arteriosus is the sole source of pulmonary blood flow, is often symptomatic within the first hours to days of life and becomes increasingly cyanotic as the ductus closes. In the presence of significant aortopulmonary collaterals, cyanosis may be mild to moderate. If adequate collaterals or additional sources of pulmonary blood flow are lacking, closure of the ductus may produce hypoxemia too severe for survival. Thus, early recognition of the diagnosis along with prompt institution of prostaglandin E1 (PGE1) infusion is life saving in this instance.

Conversely, when the aortopulmonary collaterals constitute the source of pulmonary blood flow, the clinical presentation may vary from cyanosis with inadequate pulmonary blood flow to no cyanosis with increased pulmonary blood flow. Uncommonly, pulmonary blood flow is sufficiently increased to cause symptoms due to pulmonary overcirculation.

Older infants and children commonly present with cyanosis. Hypoxia usually progresses further as the child outgrows the source of pulmonary blood flow. Early surgical intervention has improved survival in these patients.

On rare occasions, patients with well-developed aortopulmonary collaterals or persistent patency of the ductus arteriosus may present with heart failure. Symptoms develop several weeks after birth as pulmonary vascular resistance (PVR) decreases and pulmonary blood flow increases.

Peripheral pulses and blood pressures are usually normal during the first few days of life. Patients with increased pulmonary blood flow may be noted to have bounding pulses.

Auscultation reveals a normal first heart sound with a single second heart sound. A systolic murmur may be present at the left lower sternal border. The typical right ventricular outflow tract murmur of classic tetralogy of Fallot is not heard. A soft continuous murmur from the ductus arteriosus may occur at the left base. A continuous murmur from the aortopulmonary collaterals may be heard in the back.

Patients with palliative surgical history

Patients who have undergone palliative surgical procedures may also present with variable symptomatology. Most palliative procedures are intended to augment pulmonary blood flow by placement of systemic-to-pulmonary artery shunts. These shunts may distort the pulmonary vasculature or may cause stenosis and result in hypoxia.

Elevated pulmonary vascular resistance has been noted in the presence of large systemic-to-pulmonary connections. This problem was prevalent with the Waterston (direct anastomosis of the ascending aorta to the pulmonary artery) and the Potts (direct anastomosis of the descending aorta to the pulmonary artery) shunts, both of which have been largely abandoned.

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Contributor Information and Disclosures
Author

Michael D Pettersen, MD  Director of Echocardiography, Division of Cardiology, Children's Hospital of Michigan; Associate Professor of Pediatrics, Wayne State University School of Medicine

Michael D Pettersen, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, and American Society of Echocardiography

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.

Ameeta Martin, MD  Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

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 Aparna Kulkarni, MBBS, MD, to the development and writing of the source article.

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Parasternal long axis two-dimensional echocardiographic image demonstrating a large malalignment ventricular septal defect with overriding of the aorta over the ventricular septum.
Subcostal sagittal plane two-dimensional echocardiographic image showing pulmonary valve atresia, with confluent and well-developed pulmonary artery branches.
Suprasternal long axis color flow echocardiographic image showing a large patent ductus arteriosus supply confluent pulmonary arteries.
Aortopulmonary view angiogram, with injection in the descending thoracic aorta demonstrating multiple aortopulmonary collaterals supplying pulmonary blood flow.
Parasternal long axis two-dimensional echocardiographic image in a patient status post complete repair of tetralogy of Fallot with pulmonary atresia. A patch is visualized closing the ventricular septal defect.
Parasternal long axis color compare echocardiographic image showing the pulmonary artery conduit arising from the right ventricle.
 
 
 
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