Tetralogy of Fallot With Absent Pulmonary Valve Clinical Presentation

  • Author: Prema Ramaswamy, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Aug 8, 2011
 

History

Symptoms are noted soon after birth in patients in whom fetal detection failed to reveal the condition. In early infancy, patients with tetralogy of Fallot (TOF) with absent pulmonary valve fall into 2 groups: those with severe respiratory problems in whom medical management fails in the first year of life and those with less severe respiratory symptoms.

In a fetus, severe pulmonary regurgitation may cause heart failure, and this may result in fetal hydrops and intrauterine death. It has been suggested that only fetuses in whom the ductus is restrictive or absent are able to survive to term.[1] In fetuses that survive to term, respiratory symptoms develop soon after birth. Patients may present in severe or critical respiratory distress due to tracheal or bronchial obstruction early in infancy.

Cyanosis may be present early because of the high pulmonary vascular resistance. Cyanosis usually does not progress as it does in typical tetralogy of Fallot in patients with an intact pulmonary valve. As the pulmonary vascular resistance (PVR) falls, the cyanosis decreases as the left-to-right shunt increases.

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Physical Examination

Cyanosis, if present, is mild in most cases. The newborn may demonstrate more significant cyanosis because of both higher hemoglobin concentration and higher pulmonary vascular resistance (PVR). Stenosis can predominate in patients with a significantly hypoplastic pulmonic annulus. Such patients, therefore, demonstrate more cyanosis.

Respiratory distress may be evident with variable auscultatory findings consistent with atelectasis, hyperinflation, or consolidation.

Congestive heart failure (CHF) evidenced by increased heart rate, respiratory rate, hepatomegaly, and cardiomegaly, with an increase in the pulmonary blood flow, is noted after the normal fall in the PVR.

The precordium is hyperactive with a right ventricular lift.

Cardiac auscultation

The first heart sound is normal. The second sound is single because of the absence of the pulmonic component. The aortic component may be accentuated.

The murmur in this condition is characteristic and is a systolic and diastolic (to-and-fro) murmur best heard in the pulmonic area. The murmur is rough in quality and radiates widely over the lung fields. A short pause between the systolic and diastolic components is noted; this helps differentiate this murmur from that of a patent ductus arteriosus.

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Contributor Information and Disclosures
Author

Prema Ramaswamy, MD  Associate Professor of Clinical Pediatrics, State University of New York Downstate; Adjunct Assistant Clinical Professor of Pediatrics, St George's University School of Medicine; Co-Director of Pediatric Cardiology, Maimonides Medical Center, Lutheran Medical Center, and Coney Island Hospital

Prema Ramaswamy, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology

Disclosure: Nothing to disclose.

Specialty Editor Board

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, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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.

Julian M Stewart, MD, PhD  Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College

Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD  Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Kurt Pflieger, MD, to the development and writing of the source article.

References

  1. Yeager SB, Van Der Velde ME, Waters BL, Sanders SP. Prenatal role of the ductus arteriosus in absent pulmonary valve syndrome. Echocardiography. Aug 2002;19(6):489-93. [Medline].

  2. 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. Oct 1982;50(4):804-13. [Medline].

  3. Tiller GE, Watson MS, Duncan LM, Dowton SB. Congenital heart defect in a patient with deletion of chromosome 7q. Am J Med Genet. Feb 1988;29(2):283-7. [Medline].

  4. 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. Mar 15 1991;38(4):608-11. [Medline].

  5. 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. Jun 23 2006;28(1):32-39. [Medline].

  6. Volpe P, Paladini D, Marasini M, et al. Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus. Ultrasound Obstet Gynecol. Nov 2004;24(6):623-8. [Medline].

  7. 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].

  8. 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. Nov 1998;157(11):881-4. [Medline].

  9. 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. Mar 4 1976;37(3):403-9. [Medline].

  10. Ettedgui JA, Sharland GK, Chita SK, et al. Absent pulmonary valve syndrome with ventricular septal defect: role of the arterial duct. Am J Cardiol. Jul 15 1990;66(2):233-4. [Medline].

  11. 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. Sep 2007;30(3):254-8. [Medline].

  12. Bergwerff M, DeRuiter MC, Gittenberger-de Groot AC. Comparative anatomy and ontogeny of the ductus arteriosus, a vascular outsider. Anat Embryol (Berl). Dec 1999;200(6):559-71. [Medline].

  13. Lakier JB, Stanger P, Heymann MA, et al. Tetralogy of Fallot with absent pulmonary valve. Natural history and hemodynamic considerations. Circulation. Jul 1974;50(1):167-75. [Medline].

  14. Smith RD, DuShane JW, Edwards JE. Congenital insufficiency of the pulmonary valve,including a case of fetal heart failure. Circulation. 1959;20:554.

  15. 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. Sep 1979;10(3):171-96. [Medline].

  16. 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. Jun 1 2002;89(11):1280-5. [Medline].

  17. Castaneda AR, Jonas RA, Mayer JE. Tetralogy of Fallot. In: Cardiac Surgery of the Neonate and Infant. WB Saunders; 1994:232-3.

  18. Heinemann MK, Hanley FL. Preoperative management of neonatal tetralogy of Fallot with absent pulmonary valve syndrome. Ann Thorac Surg. Jan 1993;55(1):172-4. [Medline].

  19. Takabayashi S, Shimpo H, Miyake Y, et al. Postoperative prone position management of tetralogy of fallot with absent pulmonary valve syndrome. Jpn J Thorac Cardiovasc Surg. Mar 2005;53(3):150-3. [Medline].

  20. Alsoufi B, Williams WG, Hua Z, Cai S, Karamlou T, Chan CC, et al. Surgical outcomes in the treatment of patients with tetralogy of Fallot and absent pulmonary valve. Eur J Cardiothorac Surg. Mar 2007;31(3):354-9; discussion 359. [Medline].

  21. Stellin G, Jonas RA, Goh TH, et al. Surgical treatment of absent pulmonary valve syndrome in infants: relief of bronchial obstruction. Ann Thorac Surg. Oct 1983;36(4):468-75. [Medline].

  22. Karl TR, Musumeci F, de Leval M, et al. Surgical treatment of absent pulmonary valve syndrome. J Thorac Cardiovasc Surg. Apr 1986;91(4):590-7. [Medline].

  23. 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. Jun 1991;51(6):979-82. [Medline].

  24. Chen JM, Glickstein JS, Margossian R, Mercando ML, Hellenbrand WE, Mosca RS, et al. Superior outcomes for repair in infants and neonates with tetralogy of Fallot with absent pulmonary valve syndrome. J Thorac Cardiovasc Surg. Nov 2006;132(5):1099-104. [Medline].

  25. 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].

  26. 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. Dec 2005;130(6):1717-8. [Medline].

 
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Drawing showing absence of the pulmonary valve with features of tetralogy of Fallot. Note the small nubbins of tissue at the pulmonary valve annulus in the center of the drawing. Characteristic muscular right ventricular hypertrophy and infundibular pulmonary stenosis are present. A right aortic arch, a ventricular septal defect with overriding aortic valve, and massively dilated main and branch pulmonary arteries are present.
Pulmonary artery branching in a healthy person and in a patient with absent pulmonary valve syndrome.
 
 
 
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