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Tetralogy of Fallot With Pulmonary Atresia Clinical Presentation

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

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 absent. 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 only 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 (poor feeding, excessive sweating, rapid breathing).

Older infants and children commonly present with cyanosis as the child outgrows the source(s) of pulmonary blood flow. The presence and degree of cyanosis depends on the adequacy of pulmonary blood flow and may range from none to severe. Peripheral pulses are normal in most patients, but they may be bounding in patients with exuberant pulmonary blood flow.

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 audible along the lower left sternal border. Because the right ventricular outflow tract is atretic, there is no separate loud systolic ejection murmur at the upper left sternal border that is typical of the usual form of tetralogy of Fallot. If a patent ductus arteriosus is present, a continuous murmur usually is heard after the first 4-6 weeks of life. If systemic-to-pulmonary collateral vessels are present, continuous murmurs can be heard over the back or in the axillae.

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 and improve growth of the central branch pulmonary arteries by placement of a systemic-to-pulmonary artery shunt. These shunts may distort the pulmonary vasculature, resulting in branch pulmonary artery stenosis, or they may cause stenosis.

Pulmonary artery hypertension and 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.

 
 
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].

 
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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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