Atrial Septal Defect Workup

  • Author: Larry W Markham, MD; Chief Editor: Park W Willis IV, MD   more...
 
Updated: Apr 24, 2012
 

Laboratory Studies

  • No specific laboratory blood tests are indicated in the workup of atrial septal defects (ASDs).
  • Routine laboratory studies should be performed in patients undergoing intervention for ASD:
    • Complete blood count
    • Type and screen
    • Metabolic profile or chemistry
    • Coagulation studies (prothrombin time [PT] and activated partial thromboplastin time [aPTT])
Next

Imaging Studies

  • Chest radiography
    • In the presence of a clinically significant left-to-right shunt, chest radiographs most often show cardiomegaly because of dilatation of the right atrium and right ventricular chamber.
    • The pulmonary artery is prominent, and pulmonary vascular markings are increased in the lung fields.
    • Left atrial enlargement is rare only if clinically significant mitral regurgitation. On occasion, proximal dilatation of the superior vena cava can be seen in sinus venosus defect.
  • Transthoracic echocardiography
    • An uncertain diagnosis can be clarified with transthoracic 2-dimensional echocardiography, which provides direct noninvasive visualization of most types of ASDs, including evaluation of the right atrium, right ventricle, and pulmonary arteries, as well as other associated abnormalities. The view most beneficial is often the subcostal view. One exception is the diagnosis of a sinus venosus defect, for which transesophageal echocardiography (TEE) may be needed to image the defect, but this still may not be able to visualize the pulmonary venous return. TEEs and an echocardiogram are shown below: Parasternal short axis: RV dilation with RV pressuParasternal short axis: RV dilation with RV pressure overload as evidenced by flattening of the interventricular septum in systole. Transesophageal echocardiogram: Moderate-large ASDTransesophageal echocardiogram: Moderate-large ASD with left-to-right shunt across the interatrial septum. Apical 4-chamber view. Apical 4-chamber view.
    • In any patient with an ASD, particularly a sinus venosus defect, anomalies of systemic venous connection should be sought. These can be clearly identified by 2-dimensional imaging. Right atrial and right ventricular enlargement without identification of the cause should prompt consideration for a TEE.
    • Doppler echocardiography may be helpful in demonstrating flow across the atrial septum. It typically shows a biphasic (systolic and diastolic) pattern with a small right-to-left shunt at the beginning of systole.
    • Transthoracic echocardiography may be suboptimal in some patients with poor echocardiographic windows. In such patients, TEE can provide excellent definition of the atrial septum. TEE is also useful in guiding device placement during catheter ASD occlusion procedures and in providing immediate intraoperative assurance that defect closure is accomplished.
    • Continuous-wave Doppler echocardiography is valuable for estimating right ventricular (and pulmonary arterial when there is no associated right ventricular outflow tract obstruction) systolic pressure when a tricuspid regurgitant jet is present. This technique is also useful in evaluating patients for obstruction to pulmonary venous return.
    • Contrast echocardiography can provide additional confirmation. A right-to-left shunt can be detected by visualizing microcavitation bubbles in the left atrium and the left ventricle. A left-to-right shunt can be detected as a negative contrast washout effect in the right atrium.
  • MRI: MRI has successfully been used to identify the size and position of ASD. However, utility is limited for small defects. A major advantage of MRI is the ability to quantify right ventricular size, volume, and function along with the ability to identify the systemic and pulmonary venous return.
Previous
Next

Other Tests

  • Electrocardiography
    • Characteristic findings in patients with secundum ASD are a normal sinus rhythm, right-axis deviation, and an rSR' pattern in V1, an interventricular conduction delay or right bundle branch block (which represents delayed posterobasal activation of the ventricular septum and enlargement of the right ventricular outflow tract).
    • Left-axis deviation and an rSR' pattern in V1, an interventricular conduction delay or right bundle branch block suggests an ostium primum defect.
    • Left-axis deviation and negative P wave in lead III suggest sinus venosus defect.
    • Increasing pulmonary hypertension can cause loss of the rSR' pattern in V1 and a tall monophasic R wave with a deeply inverted T wave.
    • A prolonged P-R interval can be seen in familial ASD or ostium primum secondary to left atrial enlargement and an increased distance for internodal conduction produced by the defect itself. Displacement of the AV node in a posteroinferior direction in some patients or an enlarged right atrium has also been reported.
Previous
Next

Diagnostic Procedures

  • When noninvasive techniques demonstrate the presence of an uncomplicated ASD in a child, routine cardiac catheterization for diagnosis is unnecessary.
  • However, cardiac catheterization may be useful if the clinical data are inconsistent, if clinically significant pulmonary arterial hypertension is suspected, or if concurrent coronary artery disease must be assessed in patients older than 40 years. Catheterization is also a viable alternative for intervention for secundum ASD.
  • The diagnosis of ASD may be confirmed by directly passing the catheter through the defect.
    • Serial oxygen saturation measurements can be used to estimate the magnitude of the shunt
    • In young patients, right heart pressures are often normal despite a large shunt.
    • If high oxygen saturation is present in the superior vena cava or if the catheter enters a pulmonary vein directly from the right atrium, sinus venosus type is likely.
    • Partial anomalous pulmonary venous return is usually associated with sinus venosus defect, but it may also accompany the ostium secundum type.
Previous
Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Larry W Markham, MD  Assistant Professor of Pediatrics and Medicine, Vanderbilt University School of Medicine

Larry W Markham, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Marc G Cribbs, MD  Fellow, Department of Pediatric Cardiology, Vanderbilt University Medical Center

Marc G Cribbs, MD is a member of the following medical societies: American Heart Association, American Medical Association, and Christian Medical & Dental Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Park W Willis IV, MD  Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine

Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Steven J Compton, MD, FACC, FACP  Director of Cardiac Electrophysiology, Alaska Heart Institute, Providence and Alaska Regional Hospitals

Steven J Compton, MD, FACC, FACP is a member of the following medical societies: Alaska State Medical Association, American College of Cardiology, American College of Physicians, American Heart Association, American Medical Association, and Heart Rhythm Society

Disclosure: Nothing to disclose.

Amer Suleman, MD  Private Practice

Amer Suleman, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Institute of Stress, American Society of Hypertension, Federation of American Societies for Experimental Biology, Royal Society of Medicine, and Society of Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Chief Editor

Park W Willis IV, MD  Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine

Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors, James V Talano, MD, Bekir Hasan Melek, MD, Jeffrey C Milliken, MD, and Peter B Smulowitz, to the development and writing of this article.

References

  1. Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. Jan 1997;15(1):21-9. [Medline].

  2. Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. Mar 2000;24(3):283-6. [Medline].

  3. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. Dec 1999;104(11):1567-73. [Medline].

  4. [Guideline] Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: Executive Summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines for the management of adults with congenital heart disease). Circulation. Dec 2 2008;118(23):2395-451. [Medline].

  5. Kutty S, Hazeem AA, Brown K, Danford CJ, Worley SE, Delaney JW, et al. Long-term (5- to 20-year) outcomes after transcatheter or surgical treatment of hemodynamically significant isolated secundum atrial septal defect. Am J Cardiol. May 1 2012;109(9):1348-52. [Medline].

  6. Humenberger M, Rosenhek R, Gabriel H, et al. Benefit of atrial septal defect closure in adults: impact of age. Eur Heart J. Mar 2011;32(5):553-60. [Medline].

  7. Salehian O, Horlick E, Schwerzmann M, Haberer K, McLaughlin P, Siu SC. Improvements in cardiac form and function after transcatheter closure of secundum atrial septal defects. J Am Coll Cardiol. Feb 15 2005;45(4):499-504. [Medline].

  8. Di Salvo G, Drago M, Pacileo G, Rea A, Carrozza M, Santoro G, et al. Atrial function after surgical and percutaneous closure of atrial septal defect: a strain rate imaging study. J Am Soc Echocardiogr. Sep 2005;18(9):930-3. [Medline].

  9. Krumsdorf U, Ostermayer S, Billinger K, Trepels T, Zadan E, Horvath K. Incidence and clinical course of thrombus formation on atrial septal defect and patient foramen ovale closure devices in 1,000 consecutive patients. J Am Coll Cardiol. Jan 21 2004;43(2):302-9. [Medline].

  10. Brandt RR, Neumann T, Neuzner J, Rau M, Faude I, Hamm CW. Transcatheter closure of atrial septal defect and patent foramen ovale in adult patients using the Amplatzer occlusion device: no evidence for thrombus deposition with antiplatelet agents. J Am Soc Echocardiogr. Oct 2002;15(10 Pt 1):1094-8. [Medline].

  11. Divekar A, Gaamangwe T, Shaikh N, Raabe M, Ducas J. Cardiac perforation after device closure of atrial septal defects with the Amplatzer septal occluder. J Am Coll Cardiol. Apr 19 2005;45(8):1213-8. [Medline].

  12. Amin Z, Hijazi ZM, Bass JL, Cheatham JP, Hellenbrand WE, Kleinman CS. Erosion of Amplatzer septal occluder device after closure of secundum atrial septal defects: review of registry of complications and recommendations to minimize future risk. Catheter Cardiovasc Interv. Dec 2004;63(4):496-502. [Medline].

  13. Tarnok A, Bocsi J, Osmancik P, Hausler HJ, Schneider P, Dahnert I. Cardiac troponin I release after transcatheter atrial septal defect closure depends on occluder size but not on patient's age. Heart. Feb 2005;91(2):219-22. [Medline].

  14. Egred M, Andron M, Albouaini K, Alahmar A, Grainger R, Morrison WL. Percutaneous closure of patent foramen ovale and atrial septal defect: procedure outcome and medium-term follow-up. J Interv Cardiol. Oct 2007;20(5):395-401. [Medline].

  15. Fischer G, Stieh J, Uebing A, Hoffmann U, Morf G, Kramer HH. Experience with transcatheter closure of secundum atrial septal defects using the Amplatzer septal occluder: a single centre study in 236 consecutive patients. Heart. Feb 2003;89(2):199-204. [Medline].

  16. Anzai H, Child J, Natterson B, Krivokapich J, Fishbein MC, Chan VK. Incidence of thrombus formation on the CardioSEAL and the Amplatzer interatrial closure devices. Am J Cardiol. Feb 15 2004;93(4):426-31. [Medline].

  17. Argenziano M, Oz MC, DeRose Jr JJ, et al. Totally endoscopic atrial septal defect repair with robotic assistance. The Heart Surgery Forum. 2001;5(3):[Full Text].

  18. Bartel T, Konorza T, Arjumand J, et al. Intracardiac echocardiography is superior to conventional monitoring for guiding device closure of interatrial communications. Circulation. Feb 18 2003;107(6):795-7. [Medline].

  19. Bartel T, Konorza T, Neudorf U, Ebralize T, Eggebrecht H, Gutersohn A. Intracardiac echocardiography: an ideal guiding tool for device closure of interatrial communications. Eur J Echocardiogr. Mar 2005;6(2):92-6. [Medline].

  20. Bedford DE. The anatomical types of atrial septal defect. Their incidence and clinical diagnosis. Am J Cardiol. Sep 1960;6:568-74. [Medline].

  21. Benson DW, Sharkey A, Fatkin D, Lang P, Basson CT, McDonough B. Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation. May 26 1998;97(20):2043-8. [Medline].

  22. Besterman E. Atrial septal defect with pulmonary hypertension. Br Heart J. Sep 1961;23(5):587-98. [Medline].

  23. Bialkowski J, Karwot B, Szkutnik M, Banaszak P, Kusa J, Skalski J. Closure of atrial septal defects in children: surgery versus Amplatzer device implantation. Tex Heart Inst J. 2004;31(3):220-3. [Medline].

  24. Braunwald E. Atrial septal defect. In: Braunwald E, ed. Heart Disease: A Text of Cardiovascular Medicine. 1992. 4th ed. Philadelphia, Pa: WB Saunders; 1992:906-8.

  25. Carlsson E. Anatomic diagnosis of atrial septal defects. Am J Roentgenol Radium Ther Nucl Med. Jun 1961;85:1063-70. [Medline].

  26. Cherian G, Uthaman CB, Durairaj M, et al. Pulmonary hypertension in isolated secundum atrial septal defect: high frequency in young patients. Am Heart J. Jun 1983;105(6):952-7. [Medline].

  27. Chessa M, Carminati M, Butera G, et al. Early and late complications associated with transcatheter occlusion of secundum atrial septal defect. J Am Coll Cardiol. Mar 20 2002;39(6):1061-5. [Medline].

  28. Goldman L, Braunwald E. Primary Cardiology. Philadelphia, Pa: WB Saunders; 1998:394-411.

  29. Holmvang G, Palacios IF, Vlahakes GJ, et al. Imaging and sizing of atrial septal defects by magnetic resonance. Circulation. Dec 15 1995;92(12):3473-80. [Medline].

  30. Humenberger M, Rosenhek R, Gabriel H, Rader F, Heger M, Klaar U, et al. Benefit of atrial septal defect closure in adults: impact of age. Eur Heart J. Mar 2011;32(5):553-60. [Medline].

  31. Isselbacher KJ, Braunwald E, Wilson JD. Atrial septal defect. In: Isselbacher KJ, ed. Harrison's Principles of Internal Medicine. 1994. 13th ed. New York, NY: McGraw-Hill; 1994:1041.

  32. Jost CH, Connolly HM, Danielson GK, et al. Sinus venosus atrial septal defect: long-term postoperative outcome for 115patients. Circulation. Sep 27 2005;112(13):1953-8.

  33. Kirklin JW, Barratt-Boyes BG. Cardiac Surgery. London, England: Churchill Livingstone; 1986:463-97.

  34. Konstantinides S, Geibel A, Olschewski M, et al. A comparison of surgical and medical therapy for atrial septal defect in adults. N Engl J Med. Aug 24 1995;333(8):469-73. [Medline].

  35. Kronzon I, Tunick PA, Freedberg RS, et al. Transesophageal echocardiography is superior to transthoracic echocardiography in the diagnosis of sinus venosus atrial septal defect. J Am Coll Cardiol. Feb 1991;17(2):537-42. [Medline].

  36. Latson LA. Per-catheter ASD closure. Pediatr Cardiol. Jan-Feb 1998;19(1):86-93; discussion 94. [Medline].

  37. Marelli AJ, Moodie DS, Topol EJ. Adult congenital heart disease. In: Textbook of Cardiovascular Medicine. Philadelphia, Pa: Lippincott-Raven; 1998:775-9.

  38. Masura J, Gavora P, Podnar T. Long-term outcome of transcatheter secundum-type atrial septal defect closure using Amplatzer septal occluders. J Am Coll Cardiol. Feb 15 2005;45(4):505-7.

  39. Moore KL, Persaud TVN. Before We Are Born: Essentials of Embryology and Birth Defects. Philadelphia, Pa: WB Saunders Co; 1998:774-7.

  40. Murphy JG, Gersh BJ, Mair DD, et al. Long-term outcome in patients undergoing surgical repair of tetralogy of Fallot. N Engl J Med. Aug 26 1993;329(9):593-9. [Medline].

  41. O'Laughlin MP. Catheter closure of secundum atrial septal defects. Tex Heart Inst J. 1997;24(4):287-92. [Medline].

  42. Piéchaud JF. Closing down: transcatheter closure of intracardiac defects and vessel embolisations. Heart. Dec 2004;90(12):1505-10. [Medline].

  43. Rao PS. Catheter closure of atrial septal defects. J Invasive Cardiol. Jul 2003;15(7):398-400. [Medline].

  44. Ruge H, Wildhirt SM, Libera P, Vogt M, Holper K, Lange R. Images in cardiovascular medicine. Left atrial thrombus on atrial septal defect closure device as a source of cerebral emboli 3 years after implantation. Circulation. Sep 6 2005;112(10):e130-1. [Medline].

  45. Sealy WC, Farmer JC, Young Jr WG, et al. Atrial dysrhythmia and atrial secundum defects. J Thorac Cardiovasc Surg. Feb 1969;57(2):245-50. [Medline].

  46. Seward JB, Khandheria BK, Edwards WD, et al. Biplanar transesophageal echocardiography: anatomic correlations, image orientation, and clinical applications. Mayo Clin Proc. Sep 1990;65(9):1193-213. [Medline].

  47. Staniloae CS, El-Khally Z, Ibrahim R, et al. Percutaneous closure of secundum atrial septal defect in adults a single center experience with the amplatzer septal occluder. J Invasive Cardiol. Jul 2003;15(7):393-7. [Medline].

  48. Stark J. Secundum atrial septal defect. In: Surgery for Congenital Heart Defects. New York, NY: Grune & Stratton; 1983.

  49. Tardif JC, Schwartz SL, Vannan MA, et al. Clinical usefulness of multiplane transesophageal echocardiography: comparison to biplanar imaging. Am Heart J. Jul 1994;128(1):156-66. [Medline].

  50. Thuny F, Di Salvo G, Belliard O, Avierinos JF, Pergola V, Rosenberg V, et al. Risk of embolism and death in infective endocarditis: prognostic value of echocardiography: a prospective multicenter study. Circulation. Jul 5 2005;112(1):69-75. [Medline].

  51. Tonni G, Ferrari B, Defelice C, Centini G. Neonatal porencephaly in very low birth weight infants: ultrasound timing of asphyxial injury and neurodevelopmental outcome at two years of age. J Matern Fetal Neonatal Med. Dec 2005;18(6):361-5. [Medline].

  52. Vick GW 3rd, Murphy DJ Jr, Ludomirsky A, et al. Pulmonary venous and systemic ventricular inflow obstruction in patients with congenital heart disease: detection by combined two-dimensional and Doppler echocardiography. J Am Coll Cardiol. Mar 1987;9(3):580-7. [Medline].

  53. Warnes CA. The adult with congenital heart disease: born to be bad?. J Am Coll Cardiol. Jul 5 2005;46(1):1-8. [Medline].

  54. Webb G, Gatzoulis MA. Atrial septal defects in the adult: recent progress and overview. Circulation. Oct 10 2006;114(15):1645-53. [Medline].

  55. Weyman AE, Wann LS, Caldwell RL, et al. Negative contrast echocardiography: a new method for detecting left-to- right shunts. Circulation. Mar 1979;59(3):498-505. [Medline].

  56. Zanchetta M, Onorato E, Rigatelli G, Pedon L, Zennaro M, Carrozza A. Intracardiac echocardiography-guided transcatheter closure of secundum atrial septal defect: a new efficient device selection method. J Am Coll Cardiol. Nov 5 2003;42(9):1677-82. [Medline].

 
Previous
Next
 
Parasternal short axis: RV dilation with RV pressure overload as evidenced by flattening of the interventricular septum in systole.
Transesophageal echocardiogram: Moderate-large ASD with left-to-right shunt across the interatrial septum.
Apical 4-chamber view.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.