Lutembacher Syndrome Workup

  • Author: Kamran Riaz, MD; Chief Editor: Park W Willis IV, MD   more...
 
Updated: Apr 3, 2012
 

Imaging Studies

  • Chest radiographs
    • Pulmonary plethora due to left-to-right shunt
    • Mild left atrial enlargement
    • Right ventricular enlargement
    • Pulmonary artery enlargement
    • Mitral valve calcification late in life
    • Pulmonary vascular congestion and marked left atrial enlargement in cases of severe mitral stenosis and small ASD
  • Transthoracic or transesophageal echocardiography[2] - May show the following during various stages of the disease:
    • Two-dimensional (see images below)
      • Large left atrium
      • Large right atrium and ventricle
      • Enlarged pulmonary artery
      • ASD
      • Stenotic mitral valveShown is a 2-dimensional transthoracic echocardiogShown is a 2-dimensional transthoracic echocardiogram of a 74-year-old woman who presented with signs of right heart failure. Note severely dilated left atrium, calcified and thickened mitral valve leaflets, doming of the anterior mitral valve leaflet, mitral annular calcification, and reduced opening of the mitral valve. Shown is a 2-dimensional transesophageal echocardiShown is a 2-dimensional transesophageal echocardiogram during diastole of a 74-year-old woman who presented with signs of right-sided heart failure. Note the thickened, narrowed, and calcified mitral valve apparatus and doming of the anterior leaflet of the mitral valve.
    • Color flow and Doppler imaging[3] : This confirms the presence and evaluates the severity of ASD, mitral stenosis and mitral regurgitation, tricuspid regurgitation, and pulmonary pressure (see images below). Color-flow imaging of a 74-year-old woman who presColor-flow imaging of a 74-year-old woman who presented with signs of right-sided heart failure on transthoracic echocardiogram; this illustrates an anteriorly directed jet of moderate mitral regurgitation. Color-flow imaging (subcostal view) on transthoracColor-flow imaging (subcostal view) on transthoracic echocardiogram showing the left-to-right shunt across the atrial septum of a 74-year-old woman who presented with signs of right-sided heart failure. Shown is a color-flow image during transesophagealShown is a color-flow image during transesophageal echocardiography at the mitral valve level of a 74-year-old woman who presented with signs of right-sided heart failure. Note anteriorly directed jet of moderate-to-severe mitral regurgitation during systole. Color-flow imaging during transesophageal echocardColor-flow imaging during transesophageal echocardiography shows blood flow across the atrial septum in a 74-year-old woman who presented with signs of right-sided heart failure. Seen here are Doppler measurements at the mitral iSeen here are Doppler measurements at the mitral inflow level of a 74-year-old woman who presented with signs of right-sided heart failure. Note the reduced E-A slope and a peak transmitral velocity giving rise to a peak transmitral gradient of 21 mm Hg. Doppler measurement across the atrial septum reveaDoppler measurement across the atrial septum reveals a peak velocity of 4 m/s of a 74-year-old woman who presented with signs of right-sided heart failure.
    • Doppler pressure half-time method: This usually overestimates the mitral valve area. Because of the presence of ASD, the transmitral pressure gradient is generally lower than expected for the degree of the mitral stenosis, thereby falsely underestimating the pressure half-time and overestimating the mitral valve area. On the other hand, planimetry and the Doppler continuity equation method should give an accurate assessment of the mitral valve area in Lutembacher syndrome.[4]
  • Transesophageal echocardiography - May be required to separate the PFO from the ASD and to fully delineate the anatomy
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Other Tests

  • Electrocardiogram
    • Rhythm
      • Sinus rhythm
      • Atrial fibrillation
    • P wave morphology
      • Tall, broad, or bifid in lead II with a deep negative force in V1 suggesting biatrial enlargement
      • Isolated left atrial abnormality more indicative of a more severe mitral stenosis with small ASD
    • QRS morphology and axis
      • Right-axis deviation
      • Complete or incomplete right bundle-branch block or right ventricular hypertrophy
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Procedures

Cardiac catheterization is not performed routinely to confirm the diagnosis. It can be used, however, to evaluate the severity of the ASD, detect reversible pulmonary hypertension, measure the mitral valve area by the Gorlin formula, and evaluate the presence of coronary artery disease in high-risk patients.

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Contributor Information and Disclosures
Author

Kamran Riaz, MD  Clinical Assistant Professor, Department of Internal Medicine, Section of Cardiology, Wright State University, Boonshoft School of Medicine

Kamran Riaz, MD is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Society of Echocardiography, Ohio State Medical Association, and Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Gary Edward Sander, MD, PhD, FACC, FAHA, FACP, FASH  Professor of Medicine, Director of CME Programs, Team Leader, Root Cause Analysis, Tulane University Heart and Vascular Institute; Director of In-Patient Cardiology, Tulane Service, University Hospital; Visiting Physician, Medical Center of Louisiana at New Orleans; Faculty, Pennington Biomedical Research Institute, Louisiana State University; Professor, Tulane University School of Medicine

Gary Edward Sander, MD, PhD, FACC, FAHA, FACP, FASH is a member of the following medical societies: Alpha Omega Alpha, American Chemical Society, American College of Cardiology, American College of Chest Physicians, American College of Physicians, American Federation for Clinical Research, American Federation for Medical Research, American Heart Association, American Society for Pharmacology and Experimental Therapeutics, American Society of Hypertension, American Thoracic Society, Heart Failure Society of America, Louisiana State Medical Society, National Lipid Association, and Southern Society for Clinical Investigation

Disclosure: Forest Labs Honoraria Speaking and teaching

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

Marschall S Runge, MD, PhD  Charles and Anne Sanders Distinguished Professor of Medicine, Chairman, Department of Medicine, Vice Dean for Clinical Affairs, University of North Carolina at Chapel Hill School of Medicine

Marschall S Runge, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American College of Cardiology, American College of Physicians-American Society of Internal Medicine, American Federation for Clinical Research, American Federation for Medical Research, American Heart Association, American Physiological Society, American Society for Clinical Investigation, American Society for Investigative Pathology, Association of American Physicians, Association of Professors of Cardiology, Association of Professors of Medicine, Southern Society for Clinical Investigation, and Texas Medical Association

Disclosure: Pfizer Honoraria Speaking and teaching; Merck Honoraria Speaking and teaching; Orthoclinica Diagnostica Consulting fee Consulting

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.

References

  1. Wiedemann HR. Earliest description by Johann Friedrich Meckel, Senior (1750) of what is known today as Lutembacher syndrome (1916). Am J Med Genet. Oct 15 1994;53(1):59-64. [Medline].

  2. Quash JA, Davia JE, de Castro CM, Bowen TE, Green DC. Echocardiography in Lutembacher's syndrome. Chest. Nov 1977;72(5):676-8. [Medline].

  3. Sadaniantz A, Luttmann C, Shulman RS, et al. Acquired Lutembacher syndrome or mitral stenosis and acquired atrial septal defect after transseptal mitral valvuloplasty. Cathet Cardiovasc Diagn. Sep 1990;21(1):7-9. [Medline].

  4. Vasan RS, Shrivastava S, Kumar MV. Value and limitations of Doppler echocardiographic determination of mitral valve area in Lutembacher syndrome. J Am Coll Cardiol. Nov 15 1992;20(6):1362-70. [Medline].

  5. Shigenobu M, Sano S. Surgical indications and treatment of mitral valve disease associated with secundum atrial septal defect with special reference to left ventricular geometry and function. J Cardiovasc Surg (Torino). Dec 1994;35(6):469-74. [Medline].

  6. Ruiz CE, Gamra H, Mahrer P, Allen JW, O'Laughlin MP, Lau FY. Percutaneous closure of a secundum atrial septal defect and double balloon valvotomies of a severe mitral and aortic valve stenosis in a patient with Lutembacher's syndrome and severe pulmonary hypertension. Cathet Cardiovasc Diagn. Apr 1992;25(4):309-12. [Medline].

  7. Joseph G, Abhaichand Rajpal K, Kumar KP. Definitive percutaneous treatment of Lutembacher's syndrome. Catheter Cardiovasc Interv. Oct 1999;48(2):199-204. [Medline].

  8. Chau EM, Lee CH, Chow WH. Transcatheter treatment of a case of Lutembacher syndrome. Catheter Cardiovasc Interv. May 2000;50(1):68-70. [Medline].

  9. Shabbir M, Ahmed W, Akhtar K. Transcatheter treatment of Lutembacher's syndrome. J Coll Physicians Surg Pak. Feb 2008;18(2):105-6. [Medline].

  10. Ho CL, Liang KW, Fu YC, Jan SL, Lin MC, Chi CS, et al. Transcatheter therapy of Lutembacher syndrome. J Chin Med Assoc. Jun 2007;70(6):253-6. [Medline].

  11. Ansari A, Maron BJ. Lutembacher's syndrome. Tex Heart Inst J. 1997;24(3):230-1. [Medline].

  12. Chen CH, Lin SL, Hsu TL, Chen CC, Wang SP, Chang MS. Iatrogenic Lutembacher's syndrome after percutaneous transluminal mitral valvotomy. Am Heart J. Jan 1990;119(1):209-11. [Medline].

  13. Cheng TO. Coexistent atrial septal defect and mitral stenosis (Lutembacher syndrome): An ideal combination for percutaneous treatment. Catheter Cardiovasc Interv. Oct 1999;48(2):205-6. [Medline].

  14. Crawford MH. Iatrogenic Lutembacher's syndrome revisited. Circulation. Apr 1990;81(4):1422-4. [Medline].

  15. Essop MR, Essop AR, Bedhesi S, Sareli PE. Cyanosis and clubbing in a patient with iatrogenic Lutembacher syndrome. Eur Heart J. Mar 1995;16(3):421-3. [Medline].

  16. Gopala Raju AR, Cherian G, Alurkar VM, Krishnaswami S, John S. Electrocardiographic features in Lutembacher's syndrome. Indian J Chest Dis Allied Sci. Jul-Sep 1979;21(3):125-9. [Medline].

  17. Horstkotte D, Niehues R, Strauer BE. Pathomorphological aspects, aetiology and natural history of acquired mitral valve stenosis. Eur Heart J. Jul 1991;12 Suppl B:55-60. [Medline].

  18. Kauffmann R, Bianchi C, Meruane J, Thumala A, Goich J. [Lutembacher's syndrome: clinical, echocardiographic and hemodynamic aspects in 6 cases]. Rev Med Chil. May 1987;115(5):433-9. [Medline].

  19. Perloff JK. Atrial septal defect: Lutembacher syndrome. In: The Clinical Recognition of Congenital Heart Disease. 3rd ed. Philadelphia, Penn: WB Saunders Co; 1987:299-304.

  20. Turner SA, Paulus R, Massumi A, Duncan JM, Hernandez G, Hall RJ. Variant of Lutembacher's syndrome with intact atrial septum. Am Heart J. Jan 1994;127(1):224-7. [Medline].

 
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Shown is a 2-dimensional transthoracic echocardiogram of a 74-year-old woman who presented with signs of right heart failure. Note severely dilated left atrium, calcified and thickened mitral valve leaflets, doming of the anterior mitral valve leaflet, mitral annular calcification, and reduced opening of the mitral valve.
Shown is a 2-dimensional transesophageal echocardiogram during diastole of a 74-year-old woman who presented with signs of right-sided heart failure. Note the thickened, narrowed, and calcified mitral valve apparatus and doming of the anterior leaflet of the mitral valve.
Color-flow imaging of a 74-year-old woman who presented with signs of right-sided heart failure on transthoracic echocardiogram; this illustrates an anteriorly directed jet of moderate mitral regurgitation.
Color-flow imaging (subcostal view) on transthoracic echocardiogram showing the left-to-right shunt across the atrial septum of a 74-year-old woman who presented with signs of right-sided heart failure.
Shown is a color-flow image during transesophageal echocardiography at the mitral valve level of a 74-year-old woman who presented with signs of right-sided heart failure. Note anteriorly directed jet of moderate-to-severe mitral regurgitation during systole.
Color-flow imaging during transesophageal echocardiography shows blood flow across the atrial septum in a 74-year-old woman who presented with signs of right-sided heart failure.
Seen here are Doppler measurements at the mitral inflow level of a 74-year-old woman who presented with signs of right-sided heart failure. Note the reduced E-A slope and a peak transmitral velocity giving rise to a peak transmitral gradient of 21 mm Hg.
Doppler measurement across the atrial septum reveals a peak velocity of 4 m/s of a 74-year-old woman who presented with signs of right-sided heart failure.
 
 
 
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