Tetralogy of Fallot - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Tetralogy of Fallot (TOF) is a ventricular septal defect with overriding aorta and right ventricular (RV) outflow tract obstruction and resulting RV hypertrophy. The common embryologic cause for this constellation of findings is anterior and cephalad deviation of the muscular outlet of the ventricular septum.
Usually presents in the neonatal period with a murmur, cyanosis, or both.
Diagnosed by echocardiography.
Treatment is by surgical repair. This usually consists of complete intracardiac repair typically during the neonatal or infant period. Occasionally, an aortopulmonary shunt is used palliatively before complete repair.
The most common long-term complications of complete repair are progressive pulmonary regurgitation and RV failure, atrial arrhythmias, and ventricular arrhythmias.

Quick Reference

History & Exam
- Key Factors
- Other Factors
More information...
Diagnostics Tests
More information...
Treatment Options
More information...

Definition

Epidemiology

Etiology

Pathophysiology

Images

Anatomy and pathophysiology of tetralogy of Fallot (TOF): normal heart structure (a) promotes unidirectional flow of deoxygenated blood (blue) into the lungs and oxygenated blood (red) into the aorta; in TOF (b) pulmonary stenosis and narrowing of the right ventricular outflow tract (RVOT) impedes the flow of deoxygenated blood into the lungs, and both the ventricular septal defect (VSD) and overriding aorta (*) promote the flow of deoxygenated blood into the systemic circulation, to produce cyanosis (sometimes referred to as "blue baby" syndrome), right ventricular hypertrophy (RVH) is also present; (c) a Doppler echocardiogram shows mixing of deoxygenated blood from the right ventricle (RV) and oxygenated blood from the left ventricle (LV) as blood is pumped out the over-riding aorta (Ao) in a patient with TOF (RA=right atrium, LA=left atrium)
ECG in tetralogy of Fallot showing right ventricular hypertrophy

Citations

Key Articles

Valente AM, Cook S, Festa P, et al. Multimodality imaging guidelines for patients with repaired tetralogy of Fallot: a report from the American Society of Echocardiography: developed in collaboration with the Society for Cardiovascular Magnetic Resonance and the Society for Pediatric Radiology. J Am Soc Echocardiogr. 2014 Feb;27(2):111-41.[Abstract]
Hirsch JC, Mosca RS, Bove EL. Complete repair of tetralogy of Fallot in the neonate: results in the modern era. Ann Surg. 2000 Oct;232(4):508-14.[Abstract][Full Text]
Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC guidelines for the management of infective endocarditis. Eur Heart J. 2015 Nov 21;36(44):3075-128.[Abstract][Full Text]
Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines. Circulation. 2019 Apr 2;139(14):e698-800.[Abstract][Full Text]
Lui GK, Saidi A, Bhatt AB, et al. Diagnosis and management of noncardiac complications in adults with congenital heart disease: a scientific statement from the American Heart Association. Circulation. 2017 Nov 14;136(20):e348-92.[Abstract][Full Text]
Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J. 2021 Feb 11;42(6):563-645.[Abstract][Full Text]

Referenced Articles

1. Allen HD, Driscoll DJ, Shaddy RE, et al. Moss and Adams' heart disease in infants, children, and adolescents: including the fetus and young adult. 7th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2007.
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.[Abstract]
3. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002 Jun 19;39(12):1890-900.[Abstract][Full Text]
4. Bailliard F, Anderson RH. Tetralogy of Fallot. Orphanet J Rare Dis. 2009 Jan 13;4:2.[Abstract][Full Text]
5. Centers for Disease Control and Prevention. Congenital heart defects. Facts about tetralogy of fallot. Feb 2023 [internet publication].[Full Text]
6. Gill H, Splitt M, Sharland GK, et al. Patterns of recurrence of congenital heart disease: an analysis of 6640 consecutive pregnancies evaluated by detailed fetal echocardiography. J Am Coll Cardiol. 2003 Sep 3;42(5):923-9.[Abstract]
7. Ferencz C, Correa-Villasenor A, Loffredo CA, et al. Malformations of the cardiac outflow tract. In: Ferencz C, Correa-Villasenor A, Loffredo CA, et al, eds. Genetic and environmental risk factors of major cardiovascular malformations: the Baltimore-Washington Infant Study: 1981-1989. Armonk, NY: Futura Publishing Co Inc; 1997:59-102.
8. Kessler-Icekson G, Birk E, Weintraub AY, et al. Association of tetralogy of Fallot with a distinct region of del22q11.2. Am J Med Genet. 2002 Feb 1;107(4):294-8.[Abstract]
9. Momma K, Kondo C, Ando M, et al. Tetralogy of Fallot associated with chromosome 22q11 deletion. Am J Cardiol. 1995 Sep 15;76(8):618-21.[Abstract]
10. Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet. 1997 Jul;16(3):243-51.[Abstract]
11. Krantz ID, Smith R, Colliton RP, et al. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet. 1999 May 7;84(1):56-60.[Abstract]
12. Goldmuntz E, Geiger E, Benson DW. NKX2.5 mutations in patients with tetralogy of Fallot. Circulation. 2001 Nov 20;104(21):2565-8.[Abstract]
13. Vrijheid M, Martinez D, Manzanares S, et al. Ambient air pollution and risk of congenital anomalies: a systematic review and meta-analysis. Environ Health Perspect. 2011 May;119(5):598-606.[Abstract]
14. Koch R, Levy HL, Matalon R, et al. The North American Collaborative Study of Maternal Phenylketonuria. Status report 1993. Am J Dis Child. 1993 Nov;147(11):1224-30.[Abstract]
15. Lammer EJ, Chen DT, Hoar RM, et al. Retinoic acid embryopathy. N Engl J Med. 1985 Oct 3;313(14):837-41.[Abstract]
16. Feldman GL, Weaver DD, Lovrien EW. The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome. Am J Dis Child. 1977 Dec;131(12):1389-92.[Abstract]
17. Kothari SS. Mechanism of cyanotic spells in tetralogy of Fallot - the missing link? Int J Cardiol. 1992 Oct;37(1):1-5.[Abstract]
18. Reich JD, Miller S, Brogdon B, et al. The use of pulse oximetry to detect congenital heart disease. J Pediatr. 2003 Mar;142(3):268-72.[Abstract]
19. Rosati E, Chitano G, Dipaola L, et al. Indications and limitations for a neonatal pulse oximetry screening of critical congenital heart disease. J Perinat Med. 2005;33(5):455-7.[Abstract]
20. Frommelt P, Lopez L, Dimas VV, et al. Recommendations for multimodality assessment of congenital coronary anomalies: a guide from the American Society of Echocardiography: developed in collaboration with the Society for Cardiovascular Angiography and Interventions, Japanese Society of Echocardiography, and Society for Cardiovascular Magnetic Resonance. J Am Soc Echocardiogr. 2020 Mar;33(3):259-94.[Abstract][Full Text]
21. Dabizzi R, Teodori G, Barletta GA, et al. Associated coronary and cardiac anomalies in the tetralogy of Fallot. An angiographic study. Eur Heart J. 1990 Aug;11(8):692-704.[Abstract]
22. Qureshi AM, Caldarone CA, Wilder TJ. Transcatheter approaches to palliation for tetralogy of Fallot. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2022;25:48-57.[Abstract]
23. Kambe T, Kato T, Hibi N, et al. Differential diagnosis of pulmonary stenosis by means of intracardiac phonocardiography. Jpn Heart J. 1976 Nov;17(6):691-705.[Abstract]
24. Martin GR, Beekman RH 3rd, Mikula EB, et al. Implementing recommended screening for critical congenital heart disease. Pediatrics. 2013 Jul;132(1):e185-92.[Abstract]
25. Wasserman MA, Shea E, Cassidy C, et al. Recommendations for the adult cardiac sonographer performing echocardiography to screen for critical congenital heart disease in the newborn: from the American Society of Echocardiography. J Am Soc Echocardiogr. 2021 Mar;34(3):207-22.[Abstract][Full Text]
26. Valente AM, Cook S, Festa P, et al. Multimodality imaging guidelines for patients with repaired tetralogy of Fallot: a report from the American Society of Echocardiography: developed in collaboration with the Society for Cardiovascular Magnetic Resonance and the Society for Pediatric Radiology. J Am Soc Echocardiogr. 2014 Feb;27(2):111-41.[Abstract]
27. Yuan SM, Shinfeld A, Raanani E. The Blalock-Taussig shunt. J Card Surg. 2009 Mar-Apr;24(2):101-8.[Abstract][Full Text]
28. Saxena A, Ramakrishnan S, Tandon R, et al; Working Group on Management of Congenital Heart Diseases in India. Consensus on timing of intervention for common congenital heart diseases. Indian Pediatr. 2008 Feb;45(2):117-26.[Abstract][Full Text]
29. Hirsch JC, Mosca RS, Bove EL. Complete repair of tetralogy of Fallot in the neonate: results in the modern era. Ann Surg. 2000 Oct;232(4):508-14.[Abstract][Full Text]
30. Parry AJ, McElhinney DB, Kung GC, et al. Elective primary repair of acyanotic tetralogy of Fallot in early infancy: overall outcome and impact on the pulmonary valve. J Am Coll Cardiol. 2000 Dec;36(7):2279-83.[Abstract]
31. Knott-Craig CJ, Elkins RC, Lane MM, et al. A 26-year experience with surgical management of tetralogy of Fallot: risk analysis for mortality or late reintervention. Ann Thorac Surg. 1998 Aug;66(2):506-11.[Abstract]
32. Oosterhof T, van Straten A, Vliegen HW, et al. Preoperative thresholds for pulmonary valve replacement in patients with corrected tetralogy of Fallot using cardiovascular magnetic resonance. Circulation. 2007 Jul 31;116(5):545-51.[Abstract][Full Text]
33. Therrien J, Provost Y, Merchant N, et al. Optimal timing for pulmonary valve replacement in adults after tetralogy of Fallot repair. Am J Cardiol. 2005 Mar 15;95(6):779-82.[Abstract]
34. Geva T. Indications and timing of pulmonary valve replacement after tetralogy of Fallot repair. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2006:11-22.[Abstract]
35. Habib G, Lancellotti P, Antunes MJ, et al. 2015 ESC guidelines for the management of infective endocarditis. Eur Heart J. 2015 Nov 21;36(44):3075-128.[Abstract][Full Text]
36. Delgado V, Ajmone Marsan N, de Waha S, et al. 2023 ESC guidelines for the management of endocarditis. Eur Heart J. 2023 Oct 14;44(39):3948-4042.[Abstract][Full Text]
37. Khambadkone S, Coats L, Taylor A, et al. Percutaneous pulmonary valve implantation in humans: results in 59 consecutive patients. Circulation. 2005 Aug 23;112(8):1189-97.[Abstract][Full Text]
38. American College of Radiology. ACR Appropriateness Criteria® congenital or acquired heart disease. 2023 [internet publication].[Full Text]
39. Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines. Circulation. 2019 Apr 2;139(14):e698-800.[Abstract][Full Text]
40. Lui GK, Saidi A, Bhatt AB, et al. Diagnosis and management of noncardiac complications in adults with congenital heart disease: a scientific statement from the American Heart Association. Circulation. 2017 Nov 14;136(20):e348-92.[Abstract][Full Text]
41. Baumgartner H, De Backer J, Babu-Narayan SV, et al. 2020 ESC guidelines for the management of adult congenital heart disease. Eur Heart J. 2021 Feb 11;42(6):563-645.[Abstract][Full Text]
42. Abbott ME. Atlas of congenital cardiac disease. New York, NY: American Heart Association; 1936.
43. Nollert G, Fischlein T, Bouterwek S, et al. Long-term survival in patients with repair of tetralogy of Fallot: 36-year follow-up of 490 survivors of the first year after surgical repair. J Am Coll Cardiol. 1997 Nov 1;30(5):1374-83.[Abstract]
44. Nollert G, Däbritz SH, Schmoeckel M, et al. Risk factors for sudden death after repair of tetralogy of Fallot. Ann Thorac Surg. 2003 Dec;76(6):1901-5.[Abstract]
45. Silka M, Hardy BG, Menashe VD, et al. A population-based prospective evaluation of risk of sudden cardiac death after operation for common congenital heart defects. J Am Coll Cardiol. 1998 Jul;32(1):245-51.[Abstract]
46. Gatzoulis MA, Balaji S, Webber SA, et al. Risk factors for arrhythmia and sudden cardiac death late after repair of tetralogy of Fallot: a multicentre study. Lancet. 2000 Sep 16;356(9234):975-81.[Abstract]
47. Daliento L, Rizzoli G, Menti L, et al. Accuracy of electrocardiographic and echocardiographic indices in predicting life threatening ventricular arrhythmias in patients operated for tetralogy of Fallot. Heart. 1999 Jun;81(6):650-5.[Abstract][Full Text]
48. Gatzoulis MA, Till JA, Somerville J, et al. Mechanoelectrical interaction in tetralogy of Fallot: QRS prolongation relates to right ventricular size and predicts malignant ventricular arrhythmias and sudden death. Circulation. 1995 Jul 15;92(2):231-7.[Abstract]
49. Krieger EV, Zeppenfeld K, DeWitt ES, et al. Arrhythmias in repaired tetralogy of Fallot: a scientific statement from the American Heart Association. Circ Arrhythm Electrophysiol. 2022 Nov;15(11):e000084.[Abstract][Full Text]
50. Roos-Hesselink J, Perlroth MG, McGhie J, et al. Atrial arrhythmias in adults after repair of tetralogy of Fallot. Correlations with clinical, exercise, and echocardiographic findings. Circulation. 1995 Apr 15;91(8):2214-9.[Abstract]
51. Geva T, Sandweiss BM, Gauvreau K, et al. Factors associated with impaired clinical status in long-term survivors of tetralogy of Fallot repair evaluated by magnetic resonance imaging. J Am Coll Cardiol. 2004 Mar 17;43(6):1068-74.[Abstract]
52. Lisanti AJ, Uzark KC, Harrison TM, et al. Developmental care for hospitalized infants with complex congenital heart disease: a science advisory from the American Heart Association. J Am Heart Assoc. 2023 Feb 7;12(3):e028489.[Abstract][Full Text]
53. Sood E, Newburger JW, Anixt JS, et al. Neurodevelopmental outcomes for individuals with congenital heart disease: updates in neuroprotection, risk-stratification, evaluation, and management: a scientific statement from the American Heart Association. Circulation. 2024 Mar 26;149(13):e997-1022.[Abstract][Full Text]
54. Canobbio MM, Warnes CA, Aboulhosn J, et al; American Heart Association. Management of pregnancy in patients with complex congenital heart disease: a scientific statement for healthcare professionals from the American Heart Association. Circulation. 2017 Feb 21;135(8):e50-87.[Abstract][Full Text]
55. John AS, Jackson JL, Moons P, et al. Advances in managing transition to adulthood for adolescents with congenital heart disease: a practical approach to transition program design: a scientific statement from the American Heart Association. J Am Heart Assoc. 2022 Apr 5;11(7):e025278.[Abstract][Full Text]
56. Siu SC, Colman JM. Heart disease and pregnancy. Heart. 2001 Jun;85(6):710-5.[Abstract][Full Text]