Lutembacher Syndrome Workup

Updated: Dec 15, 2020
  • Author: Kamran Riaz, MD; Chief Editor: Yasmine S Ali, MD, MSCI, FACC, FACP  more...
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Workup

Imaging Studies

Chest radiography

Chest radiographs of patients with Lutembacher syndrome may include the following findings:

  • 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

Echocardiography

Transthoracic (TTE) or transesophageal echocardiography (TEE) findings during various stages of the disease may show features outlined below. [3]

Two-dimensional echocardiography

  • Large left atrium

  • Large right atrium and ventricle

  • Enlarged pulmonary artery

  • Atrial septal defect (ASD)

  • Stenotic mitral valve

See the following images.

Lutembacher Syndrome. This is a two-dimensional tr Lutembacher Syndrome. This is a two-dimensional transesophageal echocardiogram during diastole in 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

This imaging modality confirms the presence and evaluates the severity of ASD, mitral stenosis and mitral regurgitation, tricuspid regurgitation, and pulmonary pressure (see the images below). [5]

Lutembacher Syndrome. This color-flow imaging of a Lutembacher Syndrome. This color-flow imaging of a 74-year-old woman who presented with signs of right-sided heart failure on transthoracic echocardiogram (TTE) demonstrates an anteriorly directed jet of moderate mitral regurgitation.
Lutembacher Syndrome. This color-flow imaging (sub Lutembacher Syndrome. This color-flow imaging (subcostal view) on transthoracic echocardiogram shows the left-to-right shunt across the atrial septum of a 74-year-old woman who presented with signs of right-sided heart failure.
Lutembacher Syndrome. This is a color-flow image d Lutembacher Syndrome. This 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 the anteriorly directed jet of moderate-to-severe mitral regurgitation during systole.
Lutembacher Syndrome. This color-flow imaging duri Lutembacher Syndrome. This 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.
Lutembacher Syndrome. These are Doppler measuremen Lutembacher Syndrome. These 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 mmHg.
Lutembacher Syndrome. Doppler measurement across t Lutembacher Syndrome. 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 technique 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. [6]

Transesophageal echocardiography

TEE be required to differentiate between the patent foramen ovale from the ASD and to fully delineate the anatomy.

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Other Tests

Other tests in the workup of mitral stenosis may include those outlined below.

Electrocardiography

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 atrial septal defect (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 catherization

Cardiac catheterization is not performed routinely to confirm the diagnosis of Lutembacher syndrome. It can be used, however, to evaluate the severity of the atrial septal defect, 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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