Non-surgical treatment of Lutembacher syndrome: combined percutaneous transcatheter therapy

Abstract

A woman in her 30s presented with progressive worsening of dyspnoea for 6 months. On evaluation, she was diagnosed with severe rheumatic mitral stenosis (mitral valve area of 0.6 cm²) and a large ostium secundum atrial septal defect (21 mm) with a left to right shunt and severe pulmonary artery hypertension. She was diagnosed with Lutembacher syndrome and was evaluated for suitability of a percutaneous approach. She was subjected to a combined procedure of percutaneous transluminal mitral commissurotomy followed by device closure of the atrial septal defect. The patient tolerated the procedure, remained haemodynamically stable and was discharged after 4 days. This procedure can prevent the morbidity and mortality associated with anaesthesia and cardiac surgery and the psychological trauma of a thoracotomy scar particularly in a female patient, as well as obviate the need for prolonged hospital stay.

Background

The Lutembacher syndrome (LS) (figure 1) is a rare clinical entity characterised by the presence of a congenital ostium secundum atrial septal defect (ASD) and an acquired rheumatic mitral stenosis (MS). LS is seen more commonly in women, as is rheumatic MS and ASD. The incidence is about 0.001 per million population. The presence of congenital ASD in patients with MS is reported to be 0.6%–0.7% and the incidence of MS in patients with ASD is 4%. Invariably the MS component is rheumatic.¹ It is traditionally treated by open heart surgery, but amenable to percutaneous treatment in suitable patients. The features that make up the syndrome are believed to have been first mentioned in a letter by anatomist Johann Friedrich Meckel in 1750.² The syndrome is named after French physician Rene Lutembacher after his description in 1916.³ Other forms include iatrogenic LS following an atrial septal puncture in patients with MS undergoing percutaneous transluminal mitral commissurotomy (PTMC). In reverse LS, tricuspid stenosis is seen in patients with ASD, where shunting happens right to left across the ASD.⁴

Figure 1.

Lutembacher syndrome showing the presence of a congenital ostium secundum atrial septal defect and an acquired rheumatic mitral stenosis and dilated right heart chambers due to increased blood flow across the atrial septal defect from left to right.

With advances in cardiovascular technology and experience in cardiac interventions, the combination of two percutaneous procedures, PTMC and device closure of ASD, has now become an attractive alternative therapy in suitable patients with LS.

Case presentation

A short-statured woman in her 30s presented with a history of progressive worsening of dyspnoea for 6 months. She had New York Heart Association (NYHA) class III symptoms on admission. On examination, the patient had an irregularly irregular pulse, diffuse apex beat and parasternal heave. On auscultation, she had a loud variable first heart sound, wide and split second heart sound, and short mid-diastolic murmur at the apex. Grade 4/6 ejection systolic murmur was heard in the left second parasternal area. Her ECG (figure 2) showed atrial fibrillation, while echocardiography (figure 3) showed a large ostium secundum ASD measuring 21 mm, with a left to right shunt and good rims. Severe MS was seen with a mitral valve area (MVA) of 0.62 cm² and a mitral valve mean gradient of 8 mm Hg, and insignificant mitral regurgitation (MR). The mitral valve had preserved mobility, mid-leaflet and tip thickening, no calcification, and a morphological Wilkins score of 7 out of 16, which was suitable for PTMC. The patient’s blood parameters were within normal limits.

Figure 2.

ECG showing atrial fibrillation.

Figure 3.

Two-dimensional and three-dimensional echocardiography preprocedure: rheumatic severe mitral stenosis with an MVOA of 0.62 cm² and a large ASD with left to right shunt of 21×15 mm in size measured by three-dimensional echocardiography imaging. Dilated right atrium and right ventricle are also seen. ASD, atrial septal defect; LA, left atrium; LV, left ventricle; MS, mitral stenosis; MVOA, mitral valve orifice area; RA, right atrium; RV, right ventricle.

On cardiac catheterisation, the Qp to Qs ratio was 3.9, the pulmonary artery (PA) pressure was 82/42 mm Hg, with a mean of 58 mm Hg, and the mean left atrium (LA) pressure was 20 mm Hg.

Investigation

The patient’s liver function test, renal function test, coagulation profile and other biochemical parameters were normal. Her ECG (figure 2) showed atrial fibrillation.

Two-dimensional and three-dimensional echocardiography (preprocedure) (figure 3) showed congenital heart disease of 21×15 mm-sized ostium secundum ASD with left to right shunt; rheumatic heart disease; severe MS with a mitral valve orifice area (MVOA) of 0.62 cm² and a mitral valve gradient (MVG) peak of 12 mm Hg and a mean gradient of 8 mm Hg; trivial MR; dilated right atrium (RA), right ventricle (RV) and LA; grossly dilated PA and PA branches; reduced RV function; normal left ventricle (LV) function and left ventricular ejection fraction (LVEF) of 60%; no regional wall motion abnormality; severe tricuspid regurgitation (TR), with a peak gradient of 98 mm Hg; severe pulmonary artery hypertension (PAH); moderate pulmonary regurgitation; no pulmonary stenosis; no LA, LV and left atrial appendage clot; and no evidence of infective endocarditis.

Two-dimensional echocardiography (postprocedure) (figure 4) showed an MVOA of 1.61 cm²; mean MVG of 08 mm Hg; grade I MR; ASD device in situ with no residual shunt; severe TR, with a peak gradient of 70 mm Hg; severe PAH; normal LV function and LVEF of 60%.

Figure 4.

Two-dimensional echocardiography postprocedure: (A) post-PTMC MVOA of 1.61 cm² and (B) post device closure of ASD with 26 mm septal occluder. ASD, atrial septal defect; LA, left atrium; LV, left ventricle; MS, mitral stenosis; MVOA, mitral valve orifice area; PTMC, percutaneous transluminal mitral commissurotomy; RA, right atrium; RV, right ventricle.

Treatment

A percutaneous approach was planned for this patient as she had a pliable mitral valve suitable for PTMC and an ostium secundum ASD with good rims. A transcatheter therapy with PTMC followed by device closure of the ASD was strategised. Right femoral arterial and venous access was obtained. Right and left heart catheterisation with an oximetry run was performed, which confirmed a left to right shunt with step-up at the atrial level, with Qp to Qs ratio of 3.9, as measured according to the Fick principle. The mean transmitral gradient was 8 mm Hg, which was relatively low, despite significant MS due to left atrial decompression via the ASD.

PTMC (figure 5) was performed with a 24 mm Accura balloon (Vascular Concepts, UK) through existing ASD by the catheter sliding method (video 1). Crossing the mitral valve with the balloon was challenging as the balloon was unstable due to the presence of a large ASD. After valvuloplasty, the MVA increased to 1.6 cm², with no MR. The patient remained haemodynamically stable throughout the procedure and saturation levels were maintained. The next day, ASD was successfully closed (figure 6) with a 26 mm Cocoon septal occluder (Vascular Innovations, Thailand) without complications (video 2). Repeat echocardiography showed that the septal occluder was in good position, with no flow seen across the defect. There was mild MR. The patient was discharged after 4 days with reduced symptoms.

Figure 5.

Percutaneous transluminal mitral commissurotomy done with Accura balloon showing indentation of the balloon due to severe mitral stenosis (MS).

Video 1.

Disclaimer: this video summarises a scientific article published by BMJ Publishing Group Limited (BMJ). The content of this video has not been peer-reviewed and does not constitute medical advice. Any opinions expressed are solely those of the contributors. Viewers should be aware that professionals in the field may have different opinions. BMJ does not endorse any opinions expressed or recommendations discussed. Viewers should not use the content of the video as the basis for any medical treatment. BMJ disclaims all liability and responsibility arising from any reliance placed on the content.

bcr-2021-247984supp001.mp4 ^{(668.9KB, mp4)}

DOI: 10.1136/bcr-2021-247984.video01

Figure 6.

Septal occluder device closure of the atrial septal defect (ASD).

Video 2.

Disclaimer: this video summarises a scientific article published by BMJ Publishing Group Limited (BMJ). The content of this video has not been peer-reviewed and does not constitute medical advice. Any opinions expressed are solely those of the contributors. Viewers should be aware that professionals in the field may have different opinions. BMJ does not endorse any opinions expressed or recommendations discussed. Viewers should not use the content of the video as the basis for any medical treatment. BMJ disclaims all liability and responsibility arising from any reliance placed on the content.

bcr-2021-247984supp002.mp4 ^{(668.9KB, mp4)}

DOI: 10.1136/bcr-2021-247984.video02

Outcome and follow-up

After 11 months of follow-up, the patient was of NYHA class II and her echocardiography showed the device in situ, with an MVA of 1.6 cm², mild MR and moderate PAH.

Discussion

LS was described for the first time by Rene Lutembacher in 1916.⁵ It is characterised by the presence of a congenital ostium secundum ASD and an acquired rheumatic MS, with an unfavourable long-term natural history.⁶ Patients commonly present with symptoms of dyspnoea and palpitations. Physical examination usually detects a loud first heart sound, wide fixed splitting of a second heart sound, and systolic murmur at the pulmonary area and diastolic murmur at the apex. The most common findings on ECG are incomplete right bundle branch block, right atrial and/or right ventricular hypertrophy, and in some atrial fibrillation. On chest radiography most patients have cardiomegaly. The syndrome has unique pathophysiology owing to the interplay between ASD and MS. Overall haemodynamics depend on the size of the ASD, the severity of MS and the compliance of the RV. In patients with iatrogenic ASD post-PTMC, the defects are usually smaller but may sometimes become haemodynamically significant.

Firket first mentioned about the beneficial effect of a septal defect in MS.⁷ The pathophysiology of the development of pulmonary hypertension differs in isolated MS and LS (figure 7). In isolated MS, congestion of pulmonary veins and capillaries occurs early due to backpressure, resulting in dyspnoea and haemoptysis. The attendant pulmonary vasoconstriction causes obliterative pulmonary hypertension, whereas in LS the blood flows to the RA through the ASD instead of going backwards into the pulmonary veins, thus avoiding pulmonary congestion. This causes increased pulmonary blood flow and a hyperkinetic type of pulmonary hypertension. Over a period of time, this results in progressive dilatation and ultimately failure of the RV and reduced blood flow to the LV.

Figure 7.

Pathophysiology of pulmonary hypertension in Lutembacher syndrome and isolated mitral stenosis. The development of pulmonary hypertension in Lutembacher syndrome differs from isolated mitral stenosis due to absence of the atrial septum. This results in hyperkinetic pulmonary circulation due to excess flow of blood across the ASD, resulting in progressive dyspnoea and right ventricular failure. ASD, atrial septal defect; RA, right atrium; RV, right ventricle.

Even in the presence of a large ASD and high left atrial pressure, because of MS, development of Eisenmenger syndrome or irreversible pulmonary vascular disease is uncommon in LS. In contrast to an isolated ASD, susceptibility to infective endocarditis is increased by the presence of MS. Atrial dilatation in LS predisposes patients to develop atrial fibrillation.⁸

In LS, even though surgery remains the treatment of choice, percutaneous treatment has now emerged as a suitable and attractive alternative therapy in selected patients. The merits of this mode of treatment are being effective and safe in selected patients and prevention of major cardiac surgery and anaesthesia complications. It also prevents sternotomy with skin scars and reduces hospital stay. The indication for percutaneous transcatheter treatment is a large ASD, with a Qp to Qs ratio >1.5 with adequate rims, symptomatic moderate to severe MS with valve morphology favourable for PTMC, and any degree of pulmonary hypertension. The contraindications are the presence of left atrial thrombus, sinus venosus ASD, absence of adequate rims around the septal defect, presence of anomalous pulmonary drainage, grade 3 MR or higher, bicommissural calcification, and finally lack of expertise.⁹

The first combined transcatheter procedure for LS was performed by Ruiz et al.¹⁰ The patient also had severe aortic stenosis and a very high pulmonary arterial pressure. A combined ASD closure using Lock’s clamshell occluder with mitral and aortic balloon valvotomies was performed to reduce the risk of cardiac surgery.¹⁰ However, the patient refused cardiac surgery after the procedure and suddenly expired after 8 weeks. The first successful transcatheter treatment was performed by Joseph et al¹¹ in 1999. Phan et al¹² undertook a world experience review of existing literature on percutaneous therapy in LS. They found that after careful selection of patients, combined device closure along with balloon mitral valvuloplasty was found to be safe and efficacious, and to date 24 cases have been published in the world literature.^{12 13} The technical success of the combined percutaneous treatment is high, with no short-term and long-term complications.

There are technical challenges to crossing the balloon across the stenosed mitral valve due to the large ASD, which makes the balloon catheter unstable. Hence alternative or innovative methods may be required, which include use of the transcatheter sliding method, the reverse loop method, reshaping the stylet, use of flotation balloon catheters, over-the-wire method and modified over-the-wire technique. Sometimes, despite the presence of a large ASD, a separate atrial septal puncture may be required to stabilise and provide adequate support to the balloon catheter.

In the present case, the procedure was done in two sittings, where the PTMC was done initially and the septal closure of the ASD done on the following day. The mitral valve was crossed by the catheter sliding method. Two dilatations were done with a 24 mm Accura balloon. The postprocedure MVA was 1.6 cm², with mild MR. The ASD device closure was done with a 26 mm Cocoon septal occluder under transthoracic guidance. Postprocedure transthoracic echo showed a well-deployed device across the ASD. The patient was doing well after 11 months of follow-up.

The long-term outcome of percutaneous therapy remains to be seen. The major concern is the development of mitral valve restenosis. In patients who develop mitral valve restenosis, the presence of an ASD closure device precludes a repeat PTMC using the trans-septal technique. Therefore, patients may either be subjected to a mitral valve replacement surgery or a repeat PTMC by a non-trans-septal, retrograde transarterial mitral valvuloplasty.¹⁴ This technique is more demanding and technically difficult compared with the conventional mitral valvuloplasty.

In conclusion, proper assessment of both the lesions, prior anticipation of complications and skilled operator experience will enhance the chance of success with this combined percutaneous therapy.

Patient’s perspective.

I came to the hospital with symptoms of breathing difficulty over a period of 6 months. The doctor did the scan of my heart and said there are two defects in my heart for which I had to either undergo an open-heart surgery or a combined transcatheter procedure to correct the defects. The doctor explained the advantages and risks of both types of procedures. As I was afraid of an open-heart surgery and its related complications, I opted for the transcatheter combined procedure to correct the defects. The procedures were carried out on two consecutive days and both the defects were corrected. I was happy that the procedures went on well and was discharged after 4 days with minimal medications. My symptoms started improving gradually and over a span of 6–9 months after the procedure I was able to do all my routine activities.

Learning points.

• Development of pulmonary hypertension in Lutembacher syndrome (LS) differs from isolated mitral stenosis due to the absence of the atrial septum and results in hyperkinetic pulmonary circulation due to an excess flow of blood across atrial septal defect, resulting in progressive dyspnoea and right heart failure.

• Although surgical correction is the treatment of choice, percutaneous transcatheter procedure is an effective, alternative, feasible and safe therapy in suitable patients with LS.

• Careful preprocedural assessment, patient selection and operator skills are crucial to preventing procedural complications.

• Unlike conventional balloon mitral valvotomy, in patients with LS the presence of atrial septal defect makes it difficult and unstable for the balloon to cross the mitral valve, and hence alternative or modified methods to cross the mitral valve will improve the chance of success.

• This procedure can prevent the morbidity and mortality associated with anaesthesia and cardiac surgery and the psychological trauma of a thoracotomy scar particularly in a female patient, as well as obviate the need for prolonged hospital stay.

Ethics statements

Patient consent for publication

Obtained.