Tetralogy of Fallot With Absent Pulmonary Valve Workup
- Author: Prema Ramaswamy, MD; Chief Editor: Howard S Weber, MD, FSCAI more...
Tetralogy of Fallot (TOF) with absent pulmonary valve can be accurately diagnosed based on fetal echocardiography findings. Galindo et al reported that many fetuses with absent pulmonary valve syndrome have an increased nuchal thickness in the first trimester; this may help with earlier recognition of the defect. They also found the 22q11 microdeletion to be the most common associated karyotype anomaly, which was present in 21% of their patients.
A report on the utility of fetal MRI in a fetus with TOF with absent pulmonary valve documents its ability not only to assess the size of the pulmonary arteries, but also the symmetry of the aeration of the lungs secondary to obstruction and over inflation. In addition, the volume of the lungs can be determined. All these factors can then allow better anticipation of the patient's postnatal management, including the use of extracorporeal mechanical ventilation and early surgery.
Obtain a hemogram (complete blood cell [CBC] count) to determine hemoglobin and hematocrit levels. In addition, an arterial blood gas (ABG) study can provide useful information in a sick infant. The use of pulse oximetry on any extremity will indicate the severity of the pulmonary outflow tract obstruction and the need for supplemental oxygen or additional intervention.
Electrocardiography (ECG) demonstrates the presence of right ventricular hypertrophy (RVH) and greater left ventricular (LV) forces than typical for TOF (some show actual LV enlargement). Right atrial enlargement may also be present.
A study suggests that preoperative pulmonary function testing (PFT) in patients with TOF with absent pulmonary valve may help clinicians manage mechanical ventilation in these patients. Markedly elevated airway resistance as well as flow limitation in medium to small airways with a mild reduction of forced vital capacity were noted. In postoperative patients evaluated with varying levels of positive end expiratory pressure (PEEP), there was improvement in tidal volume and reduced obstruction with PEEP greater than 10 cm H2O.
Radiography, echocardiography, and magnetic resonance imaging (MRI) are imaging modalities that have been used in the evaluation of tetralogy of Fallot (TOF) with absent pulmonary valve.
Chest radiography usually reveals aneurysmally dilated central pulmonary arteries with otherwise normal peripheral pulmonary vascularity. Cardiomegaly results from dilation of the right ventricle (RV), particularly its outflow tract (infundibulum).
Other pulmonary parenchymal abnormalities may be evident (eg, atelectasis, pneumonic infiltrate, lobar emphysema, hyperinflation). The air trapping may cause a herniation of a lobe.
A right aortic arch may be found in some patients.
Echocardiography is usually diagnostic in this condition. Findings similar to those of tetralogy of Fallot include the characteristic large ventricular septal defect (VSD), enlarged anteriorly displaced aorta, and RV hypertrophy.
The conal septum is displaced anteriorly, but the RV infundibulum is patent and may be dilated if the degree of pulmonic regurgitation is substantial.
The pulmonary annulus demonstrates some degree of hypoplasia, and pulmonary valve leaflets are not observed.
The pulmonic trunk (main pulmonary artery) and proximal right and left pulmonary arteries are dilated in proportion to the degree of pulmonic regurgitation. This is also true for the RV, which is enlarged and demonstrates paradoxical septal motion.
Four key echocardiographic features of absent pulmonary valve syndrome that appear to differentiate it from tetralogy of Fallot are as follows :
Absence of pulmonary valve or presence of pulmonary valve dysplasia
Concurrent stenosis and regurgitation at the pulmonary annulus
Significant aneurysmal dilatation in the areas of the pulmonary arteries
Increased rather than decreased pulmonary artery pressure
Doppler echocardiography demonstrates turbulence through the RV outflow tract. Pulmonary regurgitation is readily identified, but the ductus arteriosus is rare. Flow across the VSD is not turbulent, because the defect is large and unrestrictive and is generally bidirectional.
Magnetic resonance imaging
An MRI may be used to obtain the above information and has the added advantage of lack of radiation exposure.
Cardiac Catheterization and Angiography
Echocardiography in the typical patient provides all of the information necessary to plan surgical repair. Unusual anatomy or the presence of some complicating additional defects rarely requires the need to perform catheterization in order to plan surgical intervention.
Abnormal pulmonary artery distribution and branching with possible peripheral pulmonary stenosis may be identified.
Catheterization may be appropriate in patients with absence of the left pulmonary artery or origin of a pulmonary artery directly from the aorta.
Right ventricular angiography demonstrates the stenotic pulmonic annulus with the dilated right and left pulmonary arteries. This has been called the "Mickey Mouse" appearance.
Yeager SB, Van Der Velde ME, Waters BL, Sanders SP. Prenatal role of the ductus arteriosus in absent pulmonary valve syndrome. Echocardiography. 2002 Aug. 19(6):489-93. [Medline].
Rabinovitch M, Grady S, David I, et al. Compression of intrapulmonary bronchi by abnormally branching pulmonary arteries associated with absent pulmonary valves. Am J Cardiol. 1982 Oct. 50(4):804-13. [Medline].
Tiller GE, Watson MS, Duncan LM, Dowton SB. Congenital heart defect in a patient with deletion of chromosome 7q. Am J Med Genet. 1988 Feb. 29(2):283-7. [Medline].
Horigome H, Takano T, Hirano T, et al. Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve. Am J Med Genet. 1991 Mar 15. 38(4):608-11. [Medline].
Galindo A, Gutierrez-Larraya F, Martinez JM, et al. Prenatal diagnosis and outcome for fetuses with congenital absence of the pulmonary valve. Ultrasound Obstet Gynecol. 2006 Jun 23. 28(1):32-39. [Medline].
Volpe P, Paladini D, Marasini M, et al. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol. 2004 Nov. 24(6):623-8. [Medline].
Miyabara S, Ando M, Yoshida K, et al. Absent aortic and pulmonary valves: investigation of three fetal cases with cystic hygroma and review of the literature. Heart Vessels. 1994. 9(1):49-55. [Medline].
Iserin L, de Lonlay P, Viot G, et al. Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr. 1998 Nov. 157(11):881-4. [Medline].
Emmanoulides GC, Thanopoulos B, Siassi B, Fishbein M. "Agenesis" of ductus arteriosus associated with the syndrome of tetralogy of Fallot and absent pulmonary valve. Am J Cardiol. 1976 Mar 4. 37(3):403-9. [Medline].
Ettedgui JA, Sharland GK, Chita SK, et al. Absent pulmonary valve syndrome with ventricular septal defect: role of the arterial duct. Am J Cardiol. 1990 Jul 15. 66(2):233-4. [Medline].
Berg C, Thomsen Y, Geipel A, Germer U, Gembruch U. Reversed end-diastolic flow in the umbilical artery at 10-14 weeks of gestation is associated with absent pulmonary valve syndrome. Ultrasound Obstet Gynecol. 2007 Sep. 30(3):254-8. [Medline].
Bergwerff M, DeRuiter MC, Gittenberger-de Groot AC. Comparative anatomy and ontogeny of the ductus arteriosus, a vascular outsider. Anat Embryol (Berl). 1999 Dec. 200(6):559-71. [Medline].
Lakier JB, Stanger P, Heymann MA, et al. Tetralogy of Fallot with absent pulmonary valve. Natural history and hemodynamic considerations. Circulation. 1974 Jul. 50(1):167-75. [Medline].
Smith RD, DuShane JW, Edwards JE. Congenital insufficiency of the pulmonary valve: including a case of fetal cardiac failure. Circulation. 1959 Oct. 20:554-60. [Full Text].
Freedom RM, Patel RG, Bloom KR, et al. Congenital absence of the pulmonary valve associated with imperforate membrane type of tricuspid atresia, right ventricular tensor apparatus and intact ventricular septum: a curious developmental complex. Eur J Cardiol. 1979 Sep. 10(3):171-96. [Medline].
Moon-Grady AJ, Tacy TA, Brook MM, et al. Value of clinical and echocardiographic features in predicting outcome in the fetus, infant, and child with tetralogy of Fallot with absent pulmonary valve complex. Am J Cardiol. 2002 Jun 1. 89(11):1280-5. [Medline].
Kawazu Y, Inamura N, Ishii R, et al. Prognosis in tetralogy of Fallot with absent pulmonary valve. Pediatr Int. 2015 Apr. 57 (2):210-6. [Medline].
Castaneda AR, Jonas RA, Mayer JE. Tetralogy of Fallot. Cardiac Surgery of the Neonate and Infant. Philadelphia: WB Saunders; 1994. 232-3.
Chelliah A, Berger JT, Blask A, Donofrio MT. Clinical utility of fetal magnetic resonance imaging in tetralogy of Fallot with absent pulmonary valve. Circulation. 2013 Feb 12. 127(6):757-9. [Medline].
Salazar AM, Newth CC, Khemani RG, Jürg H, Ross PA. Pulmonary function testing in infants with tetralogy of Fallot and absent pulmonary valve syndrome. Ann Pediatr Cardiol. 2015 May-Aug. 8 (2):108-12. [Medline].
Wu W, Pang K, Lin Q, et al. Echocardiography in the diagnosis of patients with absent pulmonary valve syndrome: a review study of 12 years. Int J Cardiovasc Imaging. 2015 Oct. 31 (7):1353-9. [Medline].
Heinemann MK, Hanley FL. Preoperative management of neonatal tetralogy of Fallot with absent pulmonary valve syndrome. Ann Thorac Surg. 1993 Jan. 55(1):172-4. [Medline].
Takabayashi S, Shimpo H, Miyake Y, Onoda K, Amano H, Maruyama K. Postoperative prone position management of tetralogy of Fallot with absent pulmonary valve syndrome. Jpn J Thorac Cardiovasc Surg. 2005 Mar. 53(3):150-3. [Medline].
Shahid F, Siddiqui MT, Amanullah MM. Tetralogy of Fallot with absent pulmonary valve syndrome; appropriate surgical strategies. J Pak Med Assoc. 2015 May. 65 (5):467-72. [Medline].
Alsoufi B, Williams WG, Hua Z, et al. Surgical outcomes in the treatment of patients with tetralogy of Fallot and absent pulmonary valve. Eur J Cardiothorac Surg. 2007 Mar. 31(3):354-9; discussion 359. [Medline].
Stellin G, Jonas RA, Goh TH, et al. Surgical treatment of absent pulmonary valve syndrome in infants: relief of bronchial obstruction. Ann Thorac Surg. 1983 Oct. 36(4):468-75. [Medline].
Karl TR, Musumeci F, de Leval M, et al. Surgical treatment of absent pulmonary valve syndrome. J Thorac Cardiovasc Surg. 1986 Apr. 91(4):590-7. [Medline].
Snir E, de Leval MR, Elliott MJ, Stark J. Current surgical technique to repair Fallot's tetralogy with absent pulmonary valve syndrome. Ann Thorac Surg. 1991 Jun. 51(6):979-82. [Medline].
Chen JM, Glickstein JS, Margossian R, et al. Superior outcomes for repair in infants and neonates with tetralogy of Fallot with absent pulmonary valve syndrome. J Thorac Cardiovasc Surg. 2006 Nov. 132(5):1099-104. [Medline].
Hraska V. Repair of tetralogy of Fallot with absent pulmonary valve using a new approach. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2005. 132-4. [Medline].
Sakamoto T, Nagase Y, Hasegawa H, et al. One-stage intracardiac repair in combination with external stenting of the trachea and right bronchus for tetralogy of Fallot with an absent pulmonary valve and tracheobronchomalacia. J Thorac Cardiovasc Surg. 2005 Dec. 130(6):1717-8. [Medline].