Pulmonary Atresia With Ventricular Septal Defect Workup

  • Author: Edwin Rodriguez-Cruz, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Apr 17, 2012
 

Laboratory Studies

  • No laboratory or blood tests are available to confirm pulmonary atresia with ventricular septal defect (PA-VSD).
  • Pulse oximetry can assist the diagnosis of cyanosis, especially in patients with dark skin and anemia (>5 mg/dL of reduced hemoglobin is required).
  • An ABG assessment can reveal hypoxemia and hypocarbia without any significant improvement with hyperoxia, favoring a diagnosis of cyanotic congenital heart disease.
  • Reactive polycythemia and coagulation defects may be evident from the results of hematologic studies.
  • Because, in some cases, pulmonary atresia with ventricular septal defect is associated with DiGeorge syndrome and velocardiofacial syndrome, genetic evaluation, including a fluorescent in situ hybridization (FISH) test, may be required.
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Imaging Studies

  • Chest radiography
    • A boot-shaped heart (coeur en sabot) is observed. It occurs secondary to an upturned cardiac apex caused by right ventricular (RV) hypertrophy and concavity in the region of the main pulmonary artery, which is produced by underdevelopment of the subpulmonary infundibulum.
    • The heart size is usually normal or slightly enlarged, most often with an RV configuration.
    • The main pulmonary arterial shadow normally depicted on chest radiography is absent.
    • The pulmonary vascular markings have a heterogeneous reticular pattern in the presence of collateral arteries from the systemic arteries.
    • Approximately 50% of patients have a right aortic arch with a large aorta.
    • The lung field is oligemic in patients with very small collateral arteries.
    • Lung fields may be flooded if the patient has a large patent ductus arteriosus (PDA) with normally developed central pulmonary arteries or well-developed systemic collateral arteries.
  • Echocardiography
    • Parasternal long-axis scans reveal a large aortic valve overriding a malaligned ventricular septal defect.
    • Position of malalignment of the ventricular septal defect (membranous or infundibular) and a blind hypoplastic RV infundibulum is easily observed using parasternal cross-sectional echocardiography.
    • Atrial septal defects (ASDs) and other muscular ventricular septal defects can be detected.
    • Scans from the suprasternal notch and high parasternal windows usually can provide important information regarding the size of the proximal pulmonary arteries and the presence of confluence. These views can also help define the side of the aortic arch and assess the patency of the ductus arteriosus.
    • A right-sided aortic arch is frequently defined using the suprasternal notch view.
    • Defining all the collateral arteries with echocardiography is difficult.
    • Short-axis parasternal and subcostal views are used to detect coronary artery abnormalities.Short-axis parasternal view (1) and diagram (3) inShort-axis parasternal view (1) and diagram (3) in a patient with pulmonary atresia and ventricular septal defect (PA-VSD). Short-axis parasternal view (2) and diagram (4) in a patient with normal anatomy. RA=right atrium; LA=left atrium; RV=right ventricle; PA=pulmonary artery; TR=tricuspid valve; PV=pulmonary valve.
  • MRI: MRI is a less invasive technique used to help define the surgically relevant pulmonary artery anatomy, but MRI images are inadequate for defining peripheral pulmonary arterial distribution.[2]

See the videos below for more imaging studies.

Left ventricular angiography (right anterior oblique caudal view) in a patient with pulmonary atresia with ventricular septal defect (PA-VSD). The catheter has been advanced from the inferior vena cava to the right atrium, across the atrial septal defect to the left atrium, and then to the left ventricle. The left ventricle fills with contrast and has good systolic function. Left-to-right shunting of contrast is present across a ventricular septal defect; however, no blood is flowing out the right ventricle. A blind pouch is observed in the area of the right ventricular outflow tract. All of the contrast medium (flow) exits the heart via the aorta. The pulmonary circulation is supplied by collateral vessels arising from the descending aorta. See Media files 2-3 for still frames.
Short-axis parasternal view in a patient with pulmonary atresia with ventricular septal defect (PA-VSD). Note the trileaflet aortic valve in the center of the picture. The tricuspid valve is on the left (9- to 10-o'clock position). The normal pulmonary valve position is on the right (2- to 3-o'clock position). This echocardiogram demonstrates that the pulmonary valve is atretic. See Media file 5 for a still frame.
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Other Tests

  • RV hypertrophy and right-axis deviation are the rule on echocardiography findings. Right atrial hypertrophy also is present.
  • In a small subgroup of patients with increased pulmonary blood flow, combined ventricular hypertrophy with left atrial enlargement may be present.
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Diagnostic Procedures

Cardiac catheterization and angiography help delineate the size and distribution of the true pulmonary arteries and the collateral arteries.

  • Right atrial pressure is normal unless tricuspid incompetence is present.
  • Pressures in the RVs are at a systemic level because of the nonrestricted ventricular septal defect.
  • The pulmonary artery cannot be manipulated through the right side.
  • Aortic pulse pressure is normal or wide, depending on the presence of a large PDA or collateral arteries.
  • True pulmonary arterial resistance is normal.
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Contributor Information and Disclosures
Author

Edwin Rodriguez-Cruz, MD  Assistant Professor, Department of Pediatrics, San Juan Bautista Medical School and Medical Center; Consulting Interventional/Clinical Pediatric Cardiologist, Department of Pediatrics, Hospital El Maestro and San Juan Bautista Medical Center; Consulting Interventional/Clinical Pediatric Cardiologist, Department of Cardiology, Cardiovascular Center of Puerto Rico and the Caribbean and Veterans Affairs Hospital and Medical Center of Puerto Rico

Edwin Rodriguez-Cruz, MD is a member of the following medical societies: American College of Cardiology, American College of Physicians-American Society of Internal Medicine, American Heart Association, American Medical Association, American Society of Echocardiography, Puerto Rico Medical Association, Society of Cardiac Angiography and Interventions, and Society of Pediatric Echocardiography

Disclosure: NOVARTIS Grant/research funds INVESTIGATOR

Coauthor(s)

Sanjeev Aggarwal, MD, MBBS  Staff Physician, Department of Pediatrics, Children's Hospital of Michigan

Sanjeev Aggarwal, MD, MBBS is a member of the following medical societies: American Academy of Pediatrics and American Medical Association

Disclosure: Nothing to disclose.

Ralph E Delius, MD  Associate Professor, Department of Surgery, Wayne State University

Ralph E Delius, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Thoracic Surgery, American College of Chest Physicians, American College of Surgeons, American Heart Association, American Medical Association, and Society of Thoracic Surgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Jonah Odim, MD, PhD, MBA  Senior Medical Officer, Transplantation Immunology Branch, Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health

Jonah Odim, MD, PhD, MBA is a member of the following medical societies: American College of Cardiology, American College of Chest Physicians, American College of Physician Executives, American College of Surgeons, American Heart Association, American Society for Artificial Internal Organs, American Society of Transplant Surgeons, Association for Academic Surgery, Association for Surgical Education, Canadian Cardiovascular Society, International Society for Heart and Lung Transplantation, National Medical Association, New York Academy of Sciences, Royal College of Physicians and Surgeons of Canada, Society of Critical Care Medicine, and Society of Thoracic Surgeons

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.

Mary C Mancini, MD, PhD  Professor and Chief of Cardiothoracic Surgery, Department of Surgery, Louisiana State University School of Medicine in Shreveport

Mary C Mancini, MD, PhD is a member of the following medical societies: American Association for Thoracic Surgery, American College of Surgeons, American Surgical Association, Phi Beta Kappa, Society of Thoracic Surgeons, and Southern Surgical Association

Disclosure: Nothing to disclose.

Daniel Rauch, MD, FAAP  Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine

Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine

Disclosure: Baxter Honoraria Consulting

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.

References

  1. Collison SP, Dagar KS, Kaushal SK, Radhakrishanan S, Shrivastava S, Iyer KS. Coronary artery fistulas in pulmonary atresia and ventricular septal defect. Asian Cardiovasc Thorac Ann. Jan 2008;16(1):29-32. [Medline].

  2. Durongpisitkul K, Saiviroonporn P, Soongswang J, Laohaprasitiporn D, Chanthong P, Nana A. Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. J Med Assoc Thai. Mar 2008;91(3):350-5. [Medline].

  3. Parker RI. Blood transfusions in patients with 22q11.2 deletion syndrome: assessment of risk requires identification of the at-risk patient. Pediatr Crit Care Med. Sep 2007;8(5):502-3. [Medline].

  4. Beauchesne LM, Warnes CA, Connolly HM, et al. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol. Feb 15 2005;45(4):595-8. [Medline].

  5. Bharati S, Paul MH, Idriss FS, et al. The surgical anatomy of pulmonary atresia with ventricular septal defect: pseudotruncus. J Thorac Cardiovasc Surg. May 1975;69(5):713-21. [Medline].

  6. Black MD, Shukla V, Freedom RM. Direct neonatal ventriculo-arterial connections (REV): early results and future implications. Ann Thorac Surg. Apr 1999;67(4):1137-41. [Medline].

  7. Calvani M, Aiuti F, Marconi M, Franchi F, Talamo D. [Thymus dysplasia with circulating T-lymphocytes but not responsive to mitogen. Post-transfusional fatal graft-versus-host disease]. Minerva Pediatr. Nov 15 1979;31(21):1555-64. [Medline].

  8. d'Udekem Y, Alphonso N, Norgaard MA, et al. Pulmonary atresia with ventricular septal defects and major aortopulmonary collateral arteries: unifocalization brings no long-term benefits. J Thorac Cardiovasc Surg. Dec 2005;130(6):1496-502. [Medline].

  9. de Groot NM, Schalij MJ. Foetal echocardiography: tool to predict the future of patients with congenital heart defects?. Eur Heart J. Jun 2008;29(11):1344-5. [Medline].

  10. Dodds GA 3rd, Warnes CA, Danielson GK. Aortic valve replacement after repair of pulmonary atresia and ventricular septal defect or tetralogy of Fallot. J Thorac Cardiovasc Surg. Apr 1997;113(4):736-41. [Medline].

  11. El-Said HG, Clapp S, Fagan TE, et al. Stenting of stenosed aortopulmonary collaterals and shunts for palliation of pulmonary atresia/ventricular septal defect. Catheter Cardiovasc Interv. Apr 2000;49(4):430-6. [Medline].

  12. Faletra F, Giardina A, Petroni R, Carraro C, Pasotti E, Pedrazzini G, et al. Evaluation of pulmonary atresia with 64-slice multidetector computed tomography (MDCT). Echocardiography. Oct 2007;24(9):998-9. [Medline].

  13. Fiane AE, Lindberg HL, Seem E, Geiran OR. Homografts for right ventricular outflow tract reconstruction in congenital heart disease. Scand Cardiovasc J. 1997;31(6):351-6. [Medline].

  14. Gill CC, Moodie DS, McGoon DC. Staged surgical management of pulmonary atresia with diminutive pulmonary arteries. J Thorac Cardiovasc Surg. Mar 1977;73(3):436-42. [Medline].

  15. Hausdorf G, Schneider M, Schulze-Neick I, Lange PE. [Pulmonary valve atresia with ventricular septum defect: interventional recanalization of the right ventricular outflow tract]. Z Kardiol. Sep 1992;81(9):496-9. [Medline].

  16. Horer J, Friebe J, Schreiber C, et al. Correction of tetralogy of Fallot and of pulmonary atresia with ventricular septal defect in adults. Ann Thorac Surg. Dec 2005;80(6):2285-91. [Medline].

  17. Huhta JC, Piehler JM, Tajik AJ, et al. Two dimensional echocardiographic detection and measurement of the right pulmonary artery in pulmonary atresia-ventricular septal defect: angiographic and surgical correlation. Am J Cardiol. Apr 1 1982;49(5):1235-40. [Medline].

  18. Jedele KB, Michels VV, Puga FJ, Feldt RH. Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics. May 1992;89(5 Pt 1):915-9. [Medline].

  19. Julsrud PR. Magnetic resonance imaging of the pulmonary arteries and veins. Semin Ultrasound CT MR. Jun 1990;11(3):184-205. [Medline].

  20. Lim ZS, Vettukattill JJ, Salmon AP, Veldtman GR. Sildenafil therapy in complex pulmonary atresia with pulmonary arterial hypertension. Int J Cardiol. Nov 12 2007;[Medline].

  21. Mair DD, Julsrud PR. Diagnostic evaluation of pulmonary atresia and ventricular septal defect: Cardiac catheterization and angiography. Prog Pediatr Cardiol. 1992;1(1):23-36.

  22. 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. Aug 2005;28(2):217-22. [Medline].

  23. Najm HK, Jha NK, Godman M, Al Mutairi M, Rezk AI, Momenah T. Pulmonary atresia, VSD in association with coronary-pulmonary artery fistula. Asian Cardiovasc Thorac Ann. Aug 2007;15(4):335-8. [Medline].

  24. Puga FJ. Surgical treatment of pulmonary atresia and ventricular septal defect. Prog Pediatr Cardiol. 1992;1(1):37-49.

  25. Rabinovitch M, Herrera-deLeon V, Castaneda AR, Reid L. Growth and development of the pulmonary vascular bed in patients with tetralogy of Fallot with or without pulmonary atresia. Circulation. Dec 1981;64(6):1234-49. [Medline].

  26. Reddy VM, McElhinney DB, Amin Z, et al. Early and intermediate outcomes after repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: experience with 85 patients. Circulation. Apr 18 2000;101(15):1826-32. [Medline].

  27. Reichenspurner H, Netz H, Uberfuhr P, et al. Heart-lung transplantation in a patient with pulmonary atresia and ventricular septal defect. Ann Thorac Surg. Jan 1994;57(1):210-2. [Medline].

  28. Schulze-Neick I, Ho SY, Bush A, et al. Severe airflow limitation after the unifocalization procedure: clinical and morphological correlates. Circulation. Nov 7 2000;102(19 Suppl 3):III142-7. [Medline].

  29. Tchervenkov CI, Roy N. Congenital Heart Surgery Nomenclature and Database Project: pulmonary atresia--ventricular septal defect. Ann Thorac Surg. Apr 2000;69(4 Suppl):S97-105. [Medline].

  30. Tchervenkov CI, Salasidis G, Cecere R, et al. One-stage midline unifocalization and complete repair in infancy versus multiple-stage unifocalization followed by repair for complex heart disease with major aortopulmonary collaterals. J Thorac Cardiovasc Surg. Nov 1997;114(5):727-35; discussion 735-7. [Medline].

  31. Tireli E, Ugurlucan M, Banach M. eComment: The anastomosis between aorta and extension conduit of the pulmonary artery. Interact Cardiovasc Thorac Surg. Apr 2008;7(2):194. [Medline].

 
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Left ventricular angiography (right anterior oblique caudal view) in a patient with pulmonary atresia with ventricular septal defect (PA-VSD). The catheter has been advanced from the inferior vena cava to the right atrium, across the atrial septal defect to the left atrium, and then to the left ventricle. The left ventricle fills with contrast and has good systolic function. Left-to-right shunting of contrast is present across a ventricular septal defect; however, no blood is flowing out the right ventricle. A blind pouch is observed in the area of the right ventricular outflow tract. All of the contrast medium (flow) exits the heart via the aorta. The pulmonary circulation is supplied by collateral vessels arising from the descending aorta. See Media files 2-3 for still frames.
Left anterior oblique ventriculogram in a patient (same patient as Media files 1-3) with pulmonary atresia with ventricular septal defect (PA-VSD). The angiogram shows the left and right ventricles with a large malalignment ventricular septal defect between them. The only outflow from the heart is the aorta. No evidence of pulmonary blood flow is observed arising from the ventricles directly to the lungs. LV=left ventricle; RV=right ventricle; Asc Ao=ascending aorta; Desc Ao=descending aorta.
Anteroposterior view of an aortogram in a patient (same patient as Media files 1-2) with pulmonary atresia with ventricular septal defect (PA-VSD). The pulmonary circulation is supplied by collateral vessels (Collaterals) that arise from the descending aorta. Desc Ao=descending aorta.
Short-axis parasternal view in a patient with pulmonary atresia with ventricular septal defect (PA-VSD). Note the trileaflet aortic valve in the center of the picture. The tricuspid valve is on the left (9- to 10-o'clock position). The normal pulmonary valve position is on the right (2- to 3-o'clock position). This echocardiogram demonstrates that the pulmonary valve is atretic. See Media file 5 for a still frame.
Short-axis parasternal view (1) and diagram (3) in a patient with pulmonary atresia and ventricular septal defect (PA-VSD). Short-axis parasternal view (2) and diagram (4) in a patient with normal anatomy. RA=right atrium; LA=left atrium; RV=right ventricle; PA=pulmonary artery; TR=tricuspid valve; PV=pulmonary valve.
 
 
 
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