Lutembacher Syndrome Workup

Updated: Mar 26, 2014
  • Author: Kamran Riaz, MD; Chief Editor: Park W Willis IV, MD  more...
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Workup

Imaging Studies

See the list below:

  • 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 valve
        Shown is a 2-dimensional transthoracic echocardiog 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 echocardi 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 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 pres 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 transthorac 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 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 echocard 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 i 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 revea 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.
    • 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

See the list below:

  • 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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