Lutembacher's syndrome

Overview

Lutembacher's syndrome is a rare cardiovascular condition characterized by the coexistence of two heart defects: an atrial septal defect (ASD) and mitral stenosis (MS). The ASD is typically congenital (present from birth), while the mitral stenosis may be either congenital or acquired, most often due to rheumatic fever. This combination alters the normal blood flow through the heart, leading to volume overload in the right atrium and ventricle and causing symptoms of heart failure over time. The syndrome was first described by French cardiologist René Lutembacher in 1916.

Causes

Lutembacher's syndrome arises from the simultaneous presence of two specific heart defects:

• Atrial Septal Defect (ASD) – a hole in the wall (septum) that separates the two upper chambers of the heart (atria). This is typically a congenital defect.

• Mitral Stenosis (MS) – narrowing of the mitral valve, which restricts blood flow from the left atrium to the left ventricle. It is most commonly caused by rheumatic fever in developing countries.

The presence of an ASD in a person with mitral stenosis can reduce the pressure buildup in the left atrium by allowing blood to shunt into the right atrium. However, this shunting results in volume overload in the right heart and lungs, eventually leading to heart failure if not treated.

Symptoms

Symptoms of Lutembacher's syndrome vary depending on the size of the ASD, the severity of the mitral stenosis, and the overall function of the heart. Common symptoms include:

• Shortness of breath, especially with exertion

• Fatigue and reduced exercise tolerance

• Palpitations or irregular heartbeats (often due to atrial fibrillation)

• Swelling of the legs and ankles (edema)

• Chest discomfort

• Frequent respiratory infections or cough

• Signs of right-sided heart failure in advanced cases

Diagnosis

The diagnosis of Lutembacher's syndrome is based on clinical evaluation, imaging, and cardiac testing. Important diagnostic steps include:

• Physical examination – may reveal a diastolic murmur (due to mitral stenosis), a fixed split of the second heart sound (from ASD), and signs of pulmonary hypertension

• Echocardiography – the key diagnostic tool that visualizes both the atrial septal defect and the narrowed mitral valve

• Electrocardiogram (ECG) – may show signs of right atrial enlargement, right ventricular hypertrophy, or atrial fibrillation

• Chest X-ray – can reveal enlarged heart chambers and pulmonary congestion

• Cardiac catheterization – used in some cases to assess the severity of defects and pulmonary pressures

Treatment

Treatment for Lutembacher's syndrome focuses on correcting both the mitral stenosis and the atrial septal defect. Options include:

• Medical therapy – may include diuretics, rate control medications (e.g., beta-blockers), anticoagulants for atrial fibrillation, and medications to manage symptoms

• Percutaneous balloon mitral valvotomy (PBMV) – a minimally invasive procedure to open a narrowed mitral valve, often preferred in rheumatic cases

• Transcatheter closure of ASD – using a device to close the atrial septal defect after mitral stenosis is treated

• Surgical repair – open-heart surgery may be needed to repair or replace the mitral valve and close the ASD if minimally invasive procedures are not suitable

Management should be individualized based on the patient's age, symptom severity, valve anatomy, and presence of arrhythmias.

Prognosis

With appropriate treatment, the prognosis for individuals with Lutembacher's syndrome is generally favorable. Early diagnosis and timely intervention—especially with minimally invasive techniques—can lead to excellent long-term outcomes. Without treatment, however, the condition may progress to right-sided heart failure, pulmonary hypertension, and significant morbidity. Lifelong follow-up with a cardiologist is essential to monitor for recurrence of valve issues, arrhythmias, and overall heart function.