Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Tetralogy of Fallot With Pulmonary Atresia Workup

  • Author: Michael D Pettersen, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
 
Updated: Nov 22, 2015
 

Approach Considerations

Pulse oximetry in the newborn, now the standard of care prior to discharge, is critical in determining the degree of systemic desaturation, which might not be obvious on clinical examination. An abnormal newborn screening pulse oximetry evaluation would result in additional diagnostic testing by a pediatric cardiologist.  In older, unrepaired cyanotic patients, obtain a complete blood cell (CBC) count to determine hemoglobin and hematocrit levels. In infants, arterial blood gas (ABG) measurement can assess their partial pressure of oxygen (PO2) and acid-base status, although at this age it is very unusual to demonstrate a metabolic acidosis.

Electrocardiographic (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.

Fluorescent in situ hybridization (FISH) analysis may be performed to detect a chromosome arm 22q deletion.

Next

Radiologic Studies

Although chest radiography, magnetic resonance imaging (MRI), and multidetector computed tomography (MDCT) scanning can be helpful in the evaluation of a patient with tetralogy of Fallot and pulmonary atresia (TOF-PA), 2-dimensional (2-D) ultrasonography (echocardiography and Doppler) is the most important imaging modality for this condition.

Radiography, MRI, and MDCT scanning

Chest radiography demonstrates a normal-sized, boot-shaped heart with decreased pulmonary vascular markings in cyanotic patients. A concavity in the region of the main pulmonary artery is evident, and 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 (major aortopulmonary collateral arteries [MAPCAs]).

In centers with expertise, MRI may be used as a noninvasive method of visualizing the pulmonary arteries and their collateral supply.[16, 17] MDCT scanning can also provide excellent delineation of the pulmonary arterial circulation.[18, 19]

O'Meagher et al suggest that right ventricular mass is associated with exercise capacity in adults with repaired tetralogy of Fallot and, thus, right ventricular mass as measured on cardiac MRI may be a novel marker for clinical progress in this patient population.[20] In their study of 82 adults with repaired tetralogy of Fallot, including 9 patients with repaired TOF-PA with ventricular septal defect, peak work was significantly and positively associated with right ventricular mass, independent of other cardiac MRI variables.[20]

2-D Ultrasonography

2-D echocardiography with color flow and 2-D Doppler is the most important tool in the diagnosis of tetralogy of Fallot with pulmonary atresia.

Parasternal long-axis view

The parasternal long axis view reveals a large aortic valve that overrides a large malalignment ventricular septal defect (VSD). 2-D and color flow imaging demonstrates lack of patency of the right ventricular outflow tract (see the videos below).

Parasternal long axis two-dimensional echocardiographic image demonstrating a large malalignment ventricular septal defect with overriding of the aorta over the ventricular septum.
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.

Suprasternal and high parasternal views

The suprasternal and high parasternal views provide information regarding the pulmonary trunk, right and left pulmonary artery size, and their confluence (see the following video). The pulmonary arteries usually appear hypoplastic and may not be visualized at all.

Suprasternal long axis color flow echocardiographic image showing a large patent ductus arteriosus supply confluent pulmonary arteries.

Other

Color-flow imaging may help to identify sources of pulmonary artery blood flow, including the ductus arteriosus (DA) and aortopulmonary collaterals (MAPCAs). Significant hypoplasia of the central pulmonary arteries is highly predictive of an absent or very small DA prenatally and the presence of aortopulmonary collaterals (MAPCA's).[21] If collaterals are suspected, echocardiography alone is inadequate for complete delineation of pulmonary blood flow, and further imaging by MRI or angiography is recommended.[22]

See the videos below for the presence of aortopulmonary collaterals and pulmonary valve atresia, respectively.

Aortopulmonary view angiogram, with injection in the descending thoracic aorta demonstrating multiple aortopulmonary collaterals supplying pulmonary blood flow.

Determination of aortic arch sidedness and the branching pattern of the brachiocephalic vessels is important, particularly if an initial aorta-pulmonary artery shunt is planned.

Subcostal sagittal plane two-dimensional echocardiographic image showing pulmonary valve atresia, with confluent and well-developed pulmonary artery branches.
Previous
Next

Cardiac Catheterization and Angiography

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 either ligated or 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 ventricular septal defect (VSD) into the left ventricle and aorta.

Coronary artery anatomy is delineated by an aortic root injection, although this is usually not necessary in newborns unless a complete surgical repair via a Rastelli procedure (right ventricle to central pulmonary artery conduit) is being considered.

Angiographic depiction of the pulmonary arteries may be performed either via a transvenous or 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 reverse 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 medium by hand causes the contrast to flow retrograde through the pulmonary veins, reaching the central pulmonary arteries.

Findings

Venous catheterization usually reveals normal right atrial pressures. Right and left ventricular pressures are equal and systemic because of the presence of a large VSD. The 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 ductus arteriosus or large MAPCAs. Pulmonary artery pressures are difficult to delineate in view of the multiple sources of pulmonary blood flow.

Systemic arterial saturation is dependent on the amount of pulmonary blood flow.

The pulmonary arteries may be depicted as confluent or nonconfluent, and areas of stenoses or hypoplasia in the pulmonary arteries may be observed. Special attention is necessary to determine the presence of a dual supply of a particular lung segment. Intercommunications between the different collateral vessels and the peripheral pulmonary artery segments may be observed.

Postprocedure precautions

Taking appropriate precautions often avoids the potential complications of cardiac catheterization, including blood vessel injury, perforation, tachyarrhythmias, bradyarrhythmias, and vascular occlusion.

General postcatheterization precautions include monitoring for hemorrhage, pain, nausea and vomiting, and arterial or venous obstruction from thrombosis or spasm. Pay 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 medium to 5-6 mL/kg. These patients are hypoxemic, requiring continuous pulse oximetry, 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.

Previous
 
 
Contributor Information and Disclosures
Author

Michael D Pettersen, MD Consulting Staff, Rocky Mountain Pediatric Cardiology, Pediatrix Medical Group

Michael D Pettersen, MD is a member of the following medical societies: American Society of Echocardiography

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

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.

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

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.

Acknowledgements

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.

References
  1. Tchervenkov CI, Roy N. Congenital Heart Surgery Nomenclature and Database Project: pulmonary atresia--ventricular septal defect. Ann Thorac Surg. 2000 Apr. 69(4 Suppl):S97-105. [Medline].

  2. Ferencz C, Rubin JD, McCarter RJ, et al. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am J Epidemiol. 1985 Jan. 121(1):31-6. [Medline].

  3. Garg P, Talwar S, Kothari SS, et al. Management of pulmonary arterial supply dependent on a coronary arterial fistula in a patient with tetralogy of fallot with pulmonary atresia. World J Pediatr Congenit Heart Surg. 2012 Oct 1. 3(4):499-503. [Medline].

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

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

  6. Carotti A, Digilio MC, Piacentini G, Saffirio C, Di Donato RM, Marino B. Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008. 14(1):35-42. [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. 1996 Jun 15. 77(15):1375-6. [Medline].

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

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

  10. Fukui D, Kai H, Takeuchi T, et al. Longest survivor of pulmonary atresia with ventricular septal defect: well-developed major aortopulmonary collateral arteries demonstrated by multidetector computed tomography. Circulation. 2011 Nov 8. 124(19):2155-7. [Medline].

  11. Marrelli AJ, Perloff JK, Child JS, Laks H. Pulmonary atresia with ventricular septal defect in adults. Circulation. 1994. 89(1):243-51. [Medline].

  12. Dearani JA, Danielson GK, Puga FJ, et al. Late follow-up of 1095 patients undergoing operation for complex congenital heart disease utilizing pulmonary ventricle to pulmonary artery conduits. Ann Thorac Surg. 2003 Feb. 75(2):399-410; discussion 410-1. [Medline].

  13. Mohammadi S, Belli E, Martinovic I, et al. Surgery for right ventricle to pulmonary artery conduit obstruction: risk factors for further reoperation. Eur J Cardiothorac Surg. 2005 Aug. 28(2):217-22. [Medline].

  14. Grant EK, Berger JT. Use of pulmonary hypertension medications in patients with tetralogy of Fallot with pulmonary atresia and multiple aortopulmonary collaterals. Pediatr Cardiol. 2015 Oct 28. [Medline].

  15. Lewis M, Ginns J, Schulze C, et al. Outcomes of adult patients with congenital heart disease after heart transplantation: impact of disease type, previous thoracic surgeries, and bystander organ dysfunction. J Card Fail. 2015 Nov 11. [Medline].

  16. 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. 2002 Jul 23. 106(4):473-8. [Medline]. [Full Text].

  17. Bernardes RJ, Marchiori E, Bernardes PM, Monzo Gonzaga MB, Simoes LC. A comparison of magnetic resonance angiography with conventional angiography in the diagnosis of tetralogy of Fallot. Cardiol Young. 2006 Jun. 16(3):281-8. [Medline].

  18. Rajeshkannan R, Moorthy S, Sreekumar KP, Ramachandran PV, Kumar RK, Remadevi KS. Role of 64-MDCT in evaluation of pulmonary atresia with ventricular septal defect. AJR Am J Roentgenol. 2010 Jan. 194(1):110-8. [Medline].

  19. Rajeshkannan R, Moorthy S, Sreekumar KP, Ramachandran PV, Kumar RK, Remadevi KS. Role of 64-MDCT in evaluation of pulmonary atresia with ventricular septal defect. AJR Am J Roentgenol. 2010 Jan. 194(1):110-8. [Medline].

  20. O'Meagher S, Seneviratne M, Skilton MR, et al. Right ventricular mass is associated with exercise capacity in adults with repaired tetralogy of Fallot. Pediatr Cardiol. 2015 Aug. 36 (6):1225-31. [Medline].

  21. 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. 2003 Mar 5. 41(5):852-7. [Medline].

  22. 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.

  23. Hugues N, Abadir S, Dragulescu A, et al. Transcatheter perforation followed by pulmonary valvuloplasty in neonates with pulmonary atresia and ventricular septal defect. Arch Cardiovasc Dis. 2009 May. 102(5):427-32. [Medline].

  24. Duncan BW, Mee RB, Prieto LR, et al. Staged repair of tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries. J Thorac Cardiovasc Surg. 2003 Sep. 126(3):694-702. [Medline].

  25. Davies B, Mussa S, Davies P, et al. Unifocalization of major aortopulmonary collateral arteries in pulmonary atresia with ventricular septal defect is essential to achieve excellent outcomes irrespective of native pulmonary artery morphology. J Thorac Cardiovasc Surg. 2009 Dec. 138(6):1269-75.e1. [Medline].

  26. Malhotra SP, Hanley FL. Surgical management of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: a protocol-based approach. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2009. 145-51. [Medline].

  27. Maskatia SA, Feinstein JA, Newman B, Hanley FL, Roth SJ. Pulmonary reperfusion injury after the unifocalization procedure for tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collateral arteries. J Thorac Cardiovasc Surg. 2012 Jul. 144(1):184-9. [Medline].

  28. Fouilloux V, Bonello B, Kammache I, Fraisse A, Mace L, Kreitmann B. Management of patients with pulmonary atresia, ventricular septal defect, hypoplastic pulmonary arteries and major aorto-pulmonary collaterals: Focus on the strategy of rehabilitation of the native pulmonary arteries. Arch Cardiovasc Dis. 2012 Dec. 105(12):666-75. [Medline].

  29. 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. 2007 Aug. 84(2):606-10; discussion 610-1. [Medline].

  30. 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. 2008 May. 3(3):176-84. [Medline].

  31. Belli E, Salihoglu E, Leobon B, et al. The performance of Hancock porcine-valved Dacron conduit for right ventricular outflow tract reconstruction. Ann Thorac Surg. 2010 Jan. 89(1):152-7; discussion 157-8. [Medline].

  32. Kaza AK, Lim HG, Dibardino DJ, et al. Long-term results of right ventricular outflow tract reconstruction in neonatal cardiac surgery: options and outcomes. J Thorac Cardiovasc Surg. 2009 Oct. 138(4):911-6. [Medline].

  33. Cheatham JP, Hellenbrand WE, Zahn EM, et al. Clinical and hemodynamic outcomes up to 7 years after transcatheter pulmonary valve replacement in the US melody valve investigational device exemption trial. Circulation. 2015 Jun 2. 131(22):1960-70. [Medline].

  34. 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. 2000 Oct. 18(4):480-6. [Medline].

  35. Reddy VM, Petrossian E, McElhinney DB, et al. One-stage complete unifocalization in infants: when should the ventricular septal defect be closed?. J Thorac Cardiovasc Surg. 1997 May. 113(5):858-66; discussion 866-8. [Medline].

  36. Learn C, Phillips A, Chisolm J, et al. Pulmonary atresia with ventricular septal defect and multifocal pulmonary blood supply: does an intensive interventional approach improve the outcome?. Congenit Heart Dis. 2012 Mar-Apr. 7(2):111-21. [Medline].

 
Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.