A 54-year-old female with a past medical history of reumatic fever as a child and hypertension was previously hospitalized on several occasions for severe shortness of breath due to heart failure. Left side cardiac catheterisation that was done 4 years ago showed coronary arteries without stenosis.

She was referred to transthoracic echocardiography (TTE) for evaluation of progression of shortness of breath over the last month. On physical examination she was afebrile. Her blood pressure was 100/70 mmHg and pulse was irregular at a rate of 70 beats per minute. The patient was tachypneic, orthopneic and cyanotic. A grade II/IV holosystolic murmur and a diastolic rumble were heard at the cardiac apex. The examination of lower extremities revealed palpable pulses and ankle edema bilaterally.

Electrocardiogram showed atrial fibrilation and chest X-ray revealed signs of pulmonary congestion. She was treated with beta-blockers, diuretics and oral anticoagulant therapy.

Transthoracic echocardiography showed thickened mitral valve with fibroscleroticly changed anterior mitral leaflet (Figure 1). As a consenquence, there was severe mitral stenosis (MS) with mitral valve area og 0.8 cm2 and mild mitral regurgitation (Figure 2). The diastolic pressure gradient was 5 mmHg. However, an ostium secundum atrial septal defect (ASD) was noted by transeophageal echocardiography (TEE), having diameter of 0.5x0.6 mm, and area of 0.2-0.3 cm2 (Figure 3). Doppler echocardiography showed left to right interatrial shunt (Figure 4). Mild pulmonary hypertension with maximal pressure gradient in pulmonary artery of 50mmHg was estimated by using Doppler recording of the tricuspidal regurgitation jet. Left and right ventricular systolic function was normal.

On the basis of the combined finding of rheumatic mitral valve stenosis and a ASD the diagnosis of Lutembacher’s syndrome was made.

In 1916, Lutembacher first described a combination of congenital ASD and acquired MS (1). The incidence of this condition is very rare and has a predilection for females. The incidence of MS in patients with ASD is 4%, and ASD in patients with MS is 0-6-0.7% (2). The hemodynamic features and natural history of patients with this syndrome depend on the size of ASD, severity of MS, pulmonary vascular resistence and the compliance of right ventricle. When MS is severe and ASD is small, it usually presents clinically as pure MS. On the contrary, when the ASD is large the signs and symptoms of ASD dominate. MS augments the left to right interatrial shunt, while ASD serves to decompress the left atrium. However, it should be stressed that the direction of blood flow is determined largely by the compliance of left and right ventricles. Normally, the right ventricle is more compliant than the left ventricle. In the presence of MS, blood flows to the right atrium through the ASD instead of going backward into the pulmonary veins, thus avoiding pulmonary congestion. The final result is the progressive dilatation and failure of the right ventricle and reduced blood flow to the left ventricle. Eisenmenger syndrome is very uncommon in the presence of large ASD and high left atrial pressure because of MS.

Clinical suspicion of Lutembacher’s syndrome should be raised by history of rheumatic heart disease, heart failure and ASD.

The role of echocardiography (2D TTE with color Doppler echocardiography, using conventional contrast technique and 3D TTE and TEE) in identifying this syndrome is well documented and it is suggested that this may be the only diagnostic technique needed before interventional or surgical correction (3, 4). Surgical correction has been previously the treatment of choice. However, nowadays, both MS and ASD, are amendable to percutaneous transcatheter intervention (5-7).

In conclusion, Lutembacher’s syndrome is rare, complex, congenital heart disease. Early diagnosis and invasive or operative treatment has a good prognostic value but late diagnosis and development of heart failure bears bad prognosis.