Tetralogy of Fallot With Pulmonary Stenosis Workup
- Author: Michael D Pettersen, MD; Chief Editor: John Kupferschmid, MD more...
The diagnosis of tetralogy of Fallot (TOF) with pulmonary stenosis may be established with fetal ultrasonography. Until the early to mid 1990s, the overwhelming majority of patients with tetralogy of Fallot underwent diagnostic cardiac catheterization before surgical repair. Since the mid 1990s, most centers have surgically repaired the majority of patients with tetralogy of Fallot with preoperative echocardiography without preoperative cardiac catheterization.
Routine blood studies indicated in patients with tetralogy of Fallot with pulmonary stenosis include a complete blood cell (CBC) count, chemistry panel, and coagulation studies, such as prothrombin time (PT), activated partial thromboplastin time (aPTT), and platelet count.
The radiographic appearance of tetralogy of Fallot (TOF) varies with whether the condition is cyanotic or acyanotic.
Cyanotic tetralogy of Fallot
The cardiac size appears normal or smaller than normal, and pulmonary vascular markings are decreased.
In tetralogy of Fallot with pulmonary atresia, black lung fields are seen.
A concave main pulmonary artery segment with an upturned cardiac apex (ie, coeur en sabot [boot-shaped heart]) is characteristic.
Right atrial enlargement (25%) and a right aortic arch (25%) may be present.
Acyanotic tetralogy of Fallot
Radiographic findings of acyanotic tetralogy of Fallot are indistinguishable from those in a small to moderate ventricular septal defect (VSD), but patients with tetralogy of Fallot have right ventricular hypertrophy (RVH) rather than left ventricular hypertrophy (LVH) on the electrocardiogram (ECG).
On electrocardiogram (ECG), right axis deviation +120 to ±150° is present in cyanotic tetralogy of Fallot (TOF). In the acyanotic form, the QRS axis is normal.
On ECG, right ventricular hypertrophy (RVH) is usually present, but the strain pattern is unusual. Combined ventricular hypertrophy (CVH) may be seen in the acyanotic form. Right atrial hypertrophy (RAH) is occasionally present.
Two-dimensional (2-D) echocardiography and Doppler ultrasonographic studies are the diagnostic modalities of choice for Tetralogy of Fallot (TOF). Echocardiographic results confirm the diagnosis and help in quantitating the severity of tetralogy of Fallot.
A large, perimembranous, infundibular ventricular septal defect (VSD) and overriding of the aorta are depicted in the parasternal long-axis view.
The anatomy of the right ventricular (RV) outflow tract (RVOT), the pulmonary valve, the pulmonary annulus, and the main pulmonary artery and its branches is depicted in the parasternal short-axis view.
Doppler studies are helpful to estimate the pressure gradient across the obstruction in the RVOT.
Associated anomalies, such as atrial septal defect (ASD) and persistence of the left superior vena cava (SVC), can be imaged, and anomalous coronary artery distribution can be accurately assessed with echocardiographic studies.
Perioperative echocardiographic studies
Echocardiography is the diagnostic modality of choice for the preoperative evaluation of patients with tetralogy of Fallot. This technique is also the diagnostic modality of choice for the postoperative follow-up evaluation of patients with both palliated and repaired tetralogy of Fallot.
Transesophageal echocardiography (TEE) is used in the operating room to plan the repair and to assess the success of the repair.
Preoperative versus postoperative findings
Before surgery, tetralogy of Fallot represents a broad spectrum of VSD sizes and RVOT obstructions (RVOTOs). After surgery, residual abnormalities range from a nearly normal-appearing heart to one with substantial RV dysfunction and residual RVOTO. 2-D echocardiography and Doppler ultrasonographic techniques can be definitive means for monitoring patients with respect to their recovery of RV function and complications, such as recurrent RVOTO and residual or recurrent VSD.
In the modern era, preoperative cardiac catheterization is reserved for certain high-risk patients with tetralogy of Fallot (TOF).
In patients with tetralogy of Fallot with pulmonary atresia, cardiac catheterization is used to assess the anatomy, size, and distribution of the peripheral pulmonary artery. The presence, origin, and insertion of major aortopulmonary collateral arteries (MAPCAs) should be documented.
In preoperative patients before complete repair status but after previous systemic-to-pulmonary artery shunting, cardiac catheterization allows visualization of the shunt and the pulmonary artery at the shunt insertion site.
Preoperative cardiac catheterization solely for the assessment of coronary artery anatomy is not necessary, because these data can typically be obtained with echocardiography.
Blalock A, Taussig HB. Landmark article May 19, 1945: The surgical treatment of malformations of the heart in which there is pulmonary stenosis or pulmonary atresia. By Alfred Blalock and Helen B. Taussig. JAMA. 1984 Apr 27. 251(16):2123-38. [Medline].
POTTS WJ, SMITH S, GIBSON S. Anastomosis of the aorta to a pulmonary artery; certain types in congenital heart disease. J Am Med Assoc. 1946 Nov 16. 132(11):627-31. [Medline].
WATERSTON DJ. [Treatment of Fallot's tetralogy in children under 1 year of age]. Rozhl Chir. 1962 Mar. 41:181-3. [Medline].
LILLEHEI CW, COHEN M, WARDEN HE, READ RC, AUST JB, DEWALL RA, et al. Direct vision intracardiac surgical correction of the tetralogy of Fallot, pentalogy of Fallot, and pulmonary atresia defects; report of first ten cases. Ann Surg. 1955 Sep. 142(3):418-42. [Medline]. [Full Text].
KIRKLIN JW, DUSHANE JW, PATRICK RT, DONALD DE, HETZEL PS, HARSHBARGER HG, et al. Intracardiac surgery with the aid of a mechanical pump-oxygenator system (gibbon type): report of eight cases. Proc Staff Meet Mayo Clin. 1955 May 18. 30(10):201-6. [Medline].
Hirsch JP, Bove EL. Tetralogy of Fallot. Mavroudis C, Backer DL, eds. Pediatric Cardiac Surgery. 3rd ed. Philadelphia, Pa: Mosby Elsevier; 2003. 383-97.
Jacobs JP. Nomenclature and classification for congenital cardiac surgery. Mavroudis C, Backer CL, eds. Pediatric Cardiac Surgery. 3rd ed. Philadelphia, Pa: Mosby; 2003. 25-38.
Kirklin JK, Kirklin JW, Blackstone EH, Milano A, Pacifico AD. Effect of transannular patching on outcome after repair of tetralogy of Fallot. Ann Thorac Surg. 1989 Dec. 48(6):783-91. [Medline].
Jacobs JP, Jacobs ML, Mavroudis C, Lacour-Gayet F. Third Harvest (1998-2002). The Society of Thoracic Surgeons Congenital Heart Surgery Database. [Full Text].
Jacobs JP, O'Brien SM, Pasquali SK, Jacobs ML, Lacour-Gayet FG, Tchervenkov CI, et al. Variation in outcomes for benchmark operations: an analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg. 2011 Dec. 92(6):2184-91; discussion 2191-2. [Medline]. [Full Text].
Nollert G, Fischlein T, Bouterwek S, Böhmer C, Klinner W, Reichart B. 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. [Medline].
Valente AM, Gauvreau K, Egidy Assenza G, Babu-Narayan SV, Schreier J, Gatzoulis MA. Contemporary predictors of death and sustained ventricular tachycardia in patients with repaired tetralogy of Fallot enrolled in the INDICATOR cohort. Heart. 2013 Oct 31. [Medline].
Arya S, Kovach J, Singh H, Karpawich PP. Arrhythmias and Sudden Death among Older Children and Young Adults Following Tetralogy of Fallot Repair in the Current Era: Are Previously Reported Risk Factors Still Applicable?. Congenit Heart Dis. 2013 Dec 9. [Medline].
Niu MC, Morris SA, Morales DL, Fraser CD Jr, Kim JJ. Low Incidence of Arrhythmias in the Right Ventricular Infundibulum Sparing Approach to Tetralogy of Fallot Repair. Pediatr Cardiol. 2013 Aug 7. [Medline].
Castleberry CD, Gudausky TM, Berger S, Tweddell JS, Pelech AN. Stenting of the Right Ventricular Outflow Tract in the High-Risk Infant With Cyanotic Teratology of Fallot. Pediatr Cardiol. 2013 Oct 6. [Medline].
Vida VL, Guariento A, Castaldi B, Sambugaro M, Padalino MA, Milanesi O. Evolving strategies for preserving the pulmonary valve during early repair of tetralogy of Fallot: Mid-term results. J Thorac Cardiovasc Surg. 2013 Dec 3. [Medline].
Hill G. Repair and follow-up of Tetralogy of Fallot with pulmonary stenosis. Congenit Heart Dis. 2013 Mar-Apr. 8(2):174-7. [Medline].
Jacobs ML. Congenital Heart Surgery Nomenclature and Database Project: tetralogy of Fallot. Ann Thorac Surg. 2000 Apr. 69(4 Suppl):S77-82. [Medline].
Walters HL 3rd, Mavroudis C, Tchervenkov CI, Jacobs JP, Lacour-Gayet F, Jacobs ML. Congenital Heart Surgery Nomenclature and Database Project: double outlet right ventricle. Ann Thorac Surg. 2000 Apr. 69(4 Suppl):S249-63. [Medline].
Kohi MP, Ordovas KG, Naeger DM, Meadows AK, Foster E, Higgins CB. CMR assessment of right ventricular function in patients with combined pulmonary stenosis and insufficiency after correction of tetralogy of Fallot. Acta Radiol. 2013 Jul 17. [Medline].
Luijnenburg SE, de Koning WB, Romeih S, van den Berg J, Vliegen HW, Mulder BJ, et al. Exercise capacity and ventricular function in patients treated for isolated pulmonary valve stenosis or tetralogy of Fallot. Int J Cardiol. 2012 Jul 26. 158(3):359-63. [Medline].
Babu-Narayan SV, Diller GP, Gheta RR, Bastin AJ, Karonis T, Li W. Clinical Outcomes of Surgical Pulmonary Valve Replacement after Repair of Tetralogy of Fallot and Potential Prognostic Value of Preoperative Cardiopulmonary Exercise Testing. Circulation. 2013 Oct 21. [Medline].
Fallot A. Anatomie pathologique de la maladie bleue. Marseille-Medial. 1888. 25:77-420.
Monro JL. Late outcomes following repair of tetralogy of Fallot. Eur J Cardiothorac Surg. 2009 Jan. 35(1):165-6. [Medline].