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

Tetralogy of Fallot With Pulmonary Atresia: Differential Diagnoses & Workup

Author: Michael Pettersen, MD, Director of Echocardiography, Division of Cardiology, Children's Hospital of Michigan; Associate Professor of Pediatrics, Wayne State University School of Medicine
Coauthor(s): Aparna Kulkarni, MBBS, MD, Fellow, Department of Cardiology, Children's Hospital of Michigan
Contributor Information and Disclosures

Updated: Nov 24, 2008

Differential Diagnoses

Heterotaxy, Asplenia
Transposition of the Great Arteries
Heterotaxy, Polysplenia
Tricuspid Atresia
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary Stenosis, Valvar
Total Anomalous Pulmonary Venous Connection

Other Problems to Be Considered

Double outlet right ventricle with severe pulmonary stenosis or atresia
Single ventricle with severe pulmonary stenosis or atresia

Workup

Laboratory Studies

  • Obtain a CBC count to determine hemoglobin and hematocrit in patients with tetralogy of Fallot with pulmonary atresia (TOF-PA).
  • In infants who are sick, ABG measurement can assess PO 2 , acid-base status.

Imaging Studies

  • Chest radiography depicts a normal-sized boot-shaped heart with decreased pulmonary vascular markings. A concavity in the region of the main pulmonary artery is observed. Approximately 26-50% of these patients have a right-sided aortic arch. Increased pulmonary vascularity may be observed in the presence of large aortopulmonary collaterals.
  • Two-dimensional echocardiography with color flow and 2-dimensional Doppler is the most important tool in the diagnosis.
    • The parasternal long axis view reveals a large aortic valve that overrides a large malalignment ventricular septal defect (VSD). Two-dimensional and color flow imaging demonstrates lack of patency of the right ventricular outflow tract.
    • The suprasternal and high parasternal views provide information regarding the pulmonary trunk, right and left pulmonary artery size, and their confluence. The pulmonary arteries usually appear hypoplastic and may not be visualized at all.
    • Color-flow imaging identifies sources of pulmonary artery blood flow including the ductus arteriosus (DA) and aortopulmonary collaterals. Significant hypoplasia of the central pulmonary arteries or presence of a small patent ductus arteriosus (PDA) is highly predictive of the presence of aortopulmonary collaterals.8  If collaterals are suspected, echocardiography alone is inadequate for complete delineation of pulmonary blood flow, and further imaging by MRI or angiography is recommended.9
    • Determination of the side of the aortic arch is important, particularly if an initial aorta-pulmonary artery shunt is planned.
  • In centers with expertise, MRI may be used as a noninvasive method of visualizing the pulmonary arteries and their collateral supply.10,11

Other Tests

  • ECG findings are similar to those of other patients with tetralogy of Fallot. Right ventricular hypertrophy with right axis deviation is usually present. Biventricular hypertrophy may occur in infants with cardiac failure from excessive pulmonary blood flow. Tetralogy of Fallot with pulmonary atresia can be differentiated from pulmonary atresia with an intact septum because patients with the latter diagnosis have diminutive anterior QRS forces and left ventricular hypertrophy.
  • Fluorescent in situ hybridization (FISH) analysis may be performed to detect a chromosome arm 22q deletion.

Procedures

  • Indications: Cardiac catheterization with angiography is recommended in most patients before surgical repair. Careful delineation of all sources of pulmonary blood supply is necessary to facilitate surgical planning. This includes determination of the presence, size, and confluence of the native pulmonary arteries and the presence of major aortopulmonary collaterals that may need to be incorporated into the repair.
  • Technique: A femoral venous approach may be used to perform the right heart catheterization. The catheter does not pass across the pulmonary valve but can easily pass across the VSD into the left ventricle and aorta.
    • To visualize the VSD, ventriculography should be obtained with injection in the left ventricle. Coronary artery anatomy is delineated by an aortic root injection.
    • Angiographic depiction of the pulmonary arteries may necessitate a retrograde arterial approach. This also allows easier access to imaging of both surgical shunts and aortopulmonary collaterals. Biplane angiography that includes both lung fields is important in defining the complete anatomy of both pulmonary arteries. Determining the confluence and patency of pulmonary arteries is of utmost importance. Further selective angiograms may be obtained to delineate the systemic-to-pulmonary collateral flow and anatomy.
    • In some patients, ventriculography and aortography do not demonstrate central true pulmonary arteries. In these patients, pulmonary vein wedge angiography may provide this information. An end-hole catheter is passed across the atrial septum and wedged into a pulmonary vein. (Bilateral injections may be necessary.) A forceful injection of contrast by hand causes contrast to flow retrograde through the pulmonary veins reaching the central pulmonary arteries.
  • Results: Venous catheterization usually reveals normal right atrial pressures. Right and left ventricular pressures are equal because of the presence of a large VSD. Aortic pressure is normal if pulmonary blood flow is normal or decreased. A wide pulse pressure may be observed in the presence of a large DA. Pulmonary pressures are low with normal pulmonary vascular resistance but may be elevated in the presence of a large systemic-to-pulmonary shunt.
    • Unless an atrial septal defect is present, oxygen saturation in the right atrium is low. Systemic arterial saturation depends on the amount of pulmonary blood flow.
    • Ventriculography reveals the position of the VSD. The pulmonary arteries may be depicted as confluent or nonconfluent. Areas of stenoses or hypoplasia in the pulmonary arteries may be observed. Details of the systemic to pulmonary collateral supply are delineated, and special attention may be brought to dual supply of a lung segment. Intercommunications between the different collateral vessels and the peripheral pulmonary artery segments may be observed.
  • Postcatheterization precautions: General postcatheterization precautions include hemorrhage, pain, nausea and vomiting, and arterial or venous obstruction from thrombosis or spasm. Give special attention to the hydration status of infants who require multiple angiograms to outline their pulmonary arterial anatomy. Attempt to limit the amount of contrast to 5-6 mL/kg.
    • These patients are hypoxemic and may require oxygen during and after the procedure.
    • Give special attention to obtaining hemostasis and applying a pressure dressing at the access sites postcatheterization.
  • Complications: Taking appropriate precautions often avoids the potential complications of cardiac catheterization, including blood vessel injury, perforation, tachyarrhythmias, bradyarrhythmias, and vascular occlusion.

More on Tetralogy of Fallot With Pulmonary Atresia

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

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  2. Van Praagh R, Van Praagh S, Nebesar RA, et al. Tetralogy of Fallot: underdevelopment of the pulmonary infundibulum and its sequelae. Am J Cardiol. Jul 1970;26(1):25-33. [Medline].

  3. Perry LW, Neill CA, Ferencz C. Infants with congenital heart disease: the cases. In: Ferencz C, Rubin JD, Loffredo CA, et al. Perspectives in Pediatric Cardiology: Epidemiology of Congenital Heart Disease. Armonk, NY: The Baltimore Washington Infant study; 1997:59-102.

  4. Bertranou EG, Blackstone EH, Hazelrig JB, et al. Life expectancy without surgery in tetralogy of Fallot. Am J Cardiol. Sep 1978;42(3):458-66. [Medline].

  5. Leonard H, Derrick G, O'Sullivan J, Wren C. Natural and unnatural history of pulmonary atresia. Heart. Nov 2000;84(5):499-503. [Medline].

  6. Marino B, Digilio MC, Toscano A, et al. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med. Jan-Feb 2001;3(1):45-8. [Medline].

  7. Digilio MC, Marino B, Grazioli S, et al. Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia. Am J Cardiol. Jun 15 1996;77(15):1375-6. [Medline].

  8. Mackie AS, Gauvreau K, Perry SB, et al. Echocardiographic predictors of aortopulmonary collaterals in infants with tetralogy of fallot and pulmonary atresia. J Am Coll Cardiol. Mar 5 2003;41(5):852-7. [Medline].

  9. Mair DD, Julsrud PR. Diagnostic evaluation of pulmonary atresia and ventricular septal defect cardiac catheterization and angiography. Prog Pediatr Cardiol. 1992;1(1):23-26.

  10. Geva T, Greil GF, Marshall AC, et al. Gadolinium-enhanced 3-dimensional magnetic resonance angiography of pulmonary blood supply in patients with complex pulmonary stenosis or atresia: comparison with x-ray angiography. Circulation. Jul 23 2002;106(4):473-8. [Medline]. [Full Text].

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  13. Sierra J, Christenson JT, Lahlaidi NH, Beghetti M, Kalangos A. Right ventricular outflow tract reconstruction: what conduit to use? Homograft or Contegra?. Ann Thorac Surg. Aug 2007;84(2):606-10; discussion 610-1. [Medline].

  14. Niemantsverdriet MB, Ottenkamp J, Gauvreau K, Del Nido PJ, Hazenkamp MG, Jenkins KJ. Determinants of right ventricular outflow tract conduit longevity: a multinational analysis. Congenit Heart Dis. May 2008;3(3):176-84. [Medline].

  15. Lofland GK. The management of pulmonary atresia, ventricular septal defect, and multiple aorta pulmonary collateral arteries by definitive single stage repair in early infancy. Eur J Cardiothorac Surg. Oct 2000;18(4):480-6. [Medline].

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Further Reading

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Keywords

tetralogy of Fallot, TOF, tetralogy of Fallot with pulmonary atresia, TOF-PA, pulmonary atresia with ventricular septal defect, VSD, end-stage tetralogy of Fallot, Fallot tetralogy, Fallot's tetralogy, Fallot tetrad, Fallot's tetrad, CATCH22 syndrome, cardiac defect, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, microdeletion of band 22q11, vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, renal and radial anomalies, VATER syndrome, coloboma, heart disease, atresia choanae, retarded growth, retarded development, CNS anomalies, genital hypoplasia, ear anomalies, deafness, CHARGE syndrome, Alagille syndrome, cat's eye syndrome, de Lange syndrome, Klippel-Feil syndrome, trisomy 21, maternal diabetes mellitus, maternal phenylketonuria

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Contributor Information and Disclosures

Author

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

Coauthor(s)

Aparna Kulkarni, MBBS, MD, Fellow, Department of Cardiology, Children's Hospital of Michigan
Aparna Kulkarni, MBBS, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology
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 financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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.

CME Editor

Gilbert Z Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center
Gilbert Z 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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