Graphical abstract
Keywords: Lutembacher's, Transcatheter valve-in-valve replacement, Mitral stenosis
Highlights
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Development of rapid noninfective thrombosis of TMVR valve.
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Reopening of the transseptal puncture site.
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A unique cause of continuous murmur.
Introduction
Lutembacher's syndrome (LS) consists of an atrial septal defect (ASD) associated with mitral valve stenosis (MS). We report a rare case of acquired LS from an iatrogenic ASD in a patient with thrombotic obstruction of a mitral bioprosthesis.
Case Presentation
A 61-year-old woman presented to our clinic for evaluation of post–acute central retinal artery occlusion of cardioembolic source. The patient was also experiencing progressively worsening shortness of breath and associated cough.
The patient had a complicated cardiovascular history that included atrioventricular canal defect with a primum ASD and ventricular septal defect status post–surgical closure of both defects with mitral valve repair at the age of 7. At age 46, she underwent ASD surgical patch revision and bioprosthetic mitral valve replacement in the setting of severe mitral regurgitation. At the age of 60, the patient was evaluated for shortness of breath and orthopnea, discovered to have bioprosthetic mitral valve dysfunction (severe mixed mitral valve disease, regurgitation, and stenosis), and subsequently underwent transcatheter valve-in-valve replacement (TMVR) with a 26 mm Edwards valve.
In our clinic, the patient evaluation revealed normal vital signs. A cardiovascular physical examination demonstrated marked elevated jugular venous pressure, grade 1/6 apical diastolic rumble, grade 2/6 continuous murmur loudest at the mid left sternal border, and grade 2/6 holosystolic murmur at the lower left sternal border.
Transthoracic echocardiogram revealed moderately reduced left ventricular (LV) and right ventricular (RV) function (LV ejection fraction, 42%) and severe biatrial enlargement (Video 1). The mitral bioprosthetic valve was thickened with calcified cusps and a restrictive opening (Videos 2 and 3). The mean transmitral gradient was 18 mm Hg, E wave peak velocity was 2.5 m/sec, and Doppler velocity index ratio was 3.9 at a heart rate of 80 bpm, indicative of severe bioprosthesis obstruction (Figure 1A). Transthoracic echocardiogram revealed a patent atrial septostomy site with continuous high-velocity left-to-right shunt (peak systolic velocity = 2.8 m/sec; peak systolic gradient = 32 mm Hg; mean pressure gradient = 16 mm Hg; Video 4; Figure 1B) accounting for the continuous murmur.
Figure 1.
(A) Continuous-wave Doppler through the mitral bioprosthetic valve with a mean pressure gradient of 18 mm Hg. (B) Continuous-wave Doppler through the septostomy site with a mean pressure gradient of 16 mm Hg.
Transesophageal echocardiogram revealed a thrombotic obstruction of the bioprosthesis measuring 1.3 × 1.0 cm (Videos 5 and 6, Figure 2). It also confirmed the presence of iatrogenic continuous left-to-right shunt through the atrial septum at the location of the transseptal puncture site (Videos 7 and 8). The patient was started on oral anticoagulation for mural thrombus and oral diuretics.
Figure 2.
Transesophageal echocardiogram two-dimensional midesophageal two-chamber view, focus on the mitral bioprosthetic valve showing thrombus on the ventricle side measuring 1.3 × 1.0 cm (yellow arrow). LV, Left ventricle.
At 3-month follow-up, the patient reported marked improvement in her functional status with a resolution of symptoms. On transthoracic echocardiogram, the mitral prosthetic valve was mildly thickened, but there was an improvement of the leaflet motion (Videos 9 and 10). It also revealed a significant drop in the transmitral mean pressure gradient (10 mm Hg from 18 mm Hg; Figure 3A) and the transseptal peak systolic velocity, peak systolic gradient, and mean gradient (2.4 m/sec, 23 mm Hg, and 9 mm Hg, respectively; Figure 3B). No more continuous murmur was found on exam.
Figure 3.
(A) Continuous-wave Doppler through the mitral bioprosthetic valve on 3-month follow-up echo with a mean pressure gradient of 10 mm Hg. (B) Continuous-wave Doppler through the septostomy site on 3-month follow-up echo with a mean pressure gradient of 9 mm Hg.
At 6-month follow-up, the patient continued to have improvement in her clinical symptoms. Transthoracic echocardiogram showed more improvement in mitral valve leaflet motion and a significant drop of transmitral mean pressure down to 5 mm Hg (Videos 11 and 12, Figure 4).
Figure 4.
Continuous-wave Doppler through the mitral bioprosthetic valve on 6-month follow-up echo with a mean pressure gradient of 5 mm Hg.
Discussion
Lutembacher's syndrome was first described by Rene Lutembacher in 1916.1 Mitral valve stenosis is usually rheumatic in etiology, but it could be congenital. Lutembacher's syndrome is rare; it occurs in 4%-7% of ASD cases and 0.6%-1.2% of cases of MS.2
The elevated left atrial (LA) pressure due to severe MS dilates the restrictive ASD and leads to continuous left-to-right shunting.3 The progression of LS depends on MS severity, ASD size, and RV compliance. Right ventricular dilatation and failure can develop because of increased preload and afterload in the setting of left-to-right shunting through the ASD and pulmonary hypertension due to severe MS.
Small left-to-right intra-atrial shunts post–mitral balloon valvuloplasty have been described in the literature. However, most of these shunts were clinically insignificant and often closed months after the procedure.4 Acquired LS with significant left-to-right shunting as a complication of mitral balloon valvuloplasty by the septal approach, in the setting of recurrent MS, has been reported once previously in the literature.5
Our case demonstrates the first reported case of acquired LS post-TMVR through the transseptal approach. Our patient did not have any evidence of intra-atrial left-to-right shunt in her post-TMVR transesophageal echocardiogram. She developed bioprosthetic valve thrombosis resulting in severe obstructive bioprosthetic MS that led to increased LA pressures and pulmonary hypertension (RV systolic pressure = 60 mm Hg). Elevated LA pressures resulted in LA enlargement and dilatation of the intra-atrial transseptal puncture site with subsequent continuous left-to-right shunting.
Conclusion
Lutembacher's syndrome is defined by the combined presence of a congenital ASD and MS. With new treatment strategies rapidly evolving in the realm of percutaneous structural heart therapies, acquired LS due to iatrogenic septal defects should be considered in the differential.
Footnotes
Conflicts of Interest: None.
Supplementary data related to this article can be found at https://doi.org/10.1016/j.case.2021.03.004.
Supplementary Data
Transthoracic echocardiogram apical four-chamber view showing mild decreased LV and RV function and biatrial enlargement.
Transthoracic echocardiogram zoomed apical four-chamber view showing mitral bioprosthetic valve with an ill-defined mass on the valve with thickened, calcified cusps.
Transthoracic echocardiogram zoomed apical four-chamber view with color Doppler showing the mitral bioprosthetic valve with an ill-defined mass on the valve with thickened, calcified cusps.
Transthoracic echocardiogram subcostal view with and without color Doppler showing left-to-right shunt through the patent atrial septostomy site and continuous left-to-right shunt.
Transesophageal echocardiogram three-dimensional midesophageal view showing restricted leaflet motion at the six o'clock location.
Transesophageal echocardiogram two-dimensional midesophageal four-chamber view with a focus on the mitral bioprosthetic valve showing restricted leaflet motion.
Transesophageal echocardiogram three-dimensional midesophageal short access view with color showing continuous left-to-right shunt at the location of the transseptal puncture site.
Transesophageal echocardiogram two-dimensional midesophageal bicaval view with and without color showing continuous left-to-right shunt at the location of the transseptal puncture site.
Transthoracic echocardiogram zoomed apical four-chamber view showing the mitral bioprosthetic valve on 3-month follow-up echo.
Transthoracic echocardiogram zoomed apical four-chamber view with color showing the mitral bioprosthetic valve on 3-month follow-up echo.
Transthoracic echocardiogram zoomed apical four-chamber view showing the mitral bioprosthetic valve on 6-month follow-up echo.
Transthoracic echocardiogram zoomed apical four-chamber view with color showing the mitral bioprosthetic valve on 6-month follow-up echo.
References
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Associated Data
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Supplementary Materials
Transthoracic echocardiogram apical four-chamber view showing mild decreased LV and RV function and biatrial enlargement.
Transthoracic echocardiogram zoomed apical four-chamber view showing mitral bioprosthetic valve with an ill-defined mass on the valve with thickened, calcified cusps.
Transthoracic echocardiogram zoomed apical four-chamber view with color Doppler showing the mitral bioprosthetic valve with an ill-defined mass on the valve with thickened, calcified cusps.
Transthoracic echocardiogram subcostal view with and without color Doppler showing left-to-right shunt through the patent atrial septostomy site and continuous left-to-right shunt.
Transesophageal echocardiogram three-dimensional midesophageal view showing restricted leaflet motion at the six o'clock location.
Transesophageal echocardiogram two-dimensional midesophageal four-chamber view with a focus on the mitral bioprosthetic valve showing restricted leaflet motion.
Transesophageal echocardiogram three-dimensional midesophageal short access view with color showing continuous left-to-right shunt at the location of the transseptal puncture site.
Transesophageal echocardiogram two-dimensional midesophageal bicaval view with and without color showing continuous left-to-right shunt at the location of the transseptal puncture site.
Transthoracic echocardiogram zoomed apical four-chamber view showing the mitral bioprosthetic valve on 3-month follow-up echo.
Transthoracic echocardiogram zoomed apical four-chamber view with color showing the mitral bioprosthetic valve on 3-month follow-up echo.
Transthoracic echocardiogram zoomed apical four-chamber view showing the mitral bioprosthetic valve on 6-month follow-up echo.
Transthoracic echocardiogram zoomed apical four-chamber view with color showing the mitral bioprosthetic valve on 6-month follow-up echo.