Lutembacher's syndrome is a very rare form of congenital heart disease that affects one of the chambers of the heart (commonly the atria) as well as a valve (commonly the mitral valve). It is commonly known as both congenital atrial septal defect (ASD) and acquired mitral stenosis (MS). Congenital (at birth) atrial septal defect refers to a hole being in the septum or wall that separates the two atria; this condition is usually seen in fetuses and infants. Mitral stenosis refers to mitral valve leaflets (or valve flaps) sticking to each other making the opening for blood to pass from the atrium to the ventricles very small. With the valve being so small, blood has difficulty passing from the left atrium into the left ventricle. Septal defects that may occur with Lutembacher's syndrome include: Ostium primum atrial septal defect or ostium secundum which is more prevalent.
Lutembacher's syndrome affects females more often than males. It can affect children or adults; the person can either be born with the disorder or develop it later in life. The syndrome was first described by René Lutembacher (1884–1968) of Paris in 1916.
To correct Lutembacher's syndrome, surgery is often done. There are several types of surgeries depending on the cause of Lutembacher's syndrome (ASD Primum or ASD Ostium Secundum with Mitral Stenosis): Suturing (stitching) or placing a patch of tissue (similar to skin grafting) over the hole to completely close the opening Reconstructing of the mitral and tricuspid valve while patching any holes in the heart Device closure of ASD (e.g. Amplatzer umbrella or CardioSEAL to seal the hole) Percutaneous transcatheter therapy Transcatheter therapy of balloon valvuloplasty to correct MS
Symptoms and signs
As Lutembacher's syndrome is known for ASD and MS, most of the symptoms experienced will be associated with ASD and MS. For most people, they will remain asymptomatic (experience no symptoms) but when symptoms are shown, they are due mainly to ASD and will vary depending on the size of the hole in the atria. If the patient has a large ASD, pulmonary congestion (blood or fluid buildup in the lungs) will happen later but if the patient has a small ASD, symptoms will appear early in the disorder. In general, unless the ASD and mitral stenosis causing Lutembacher's syndrome is severe, symptoms may not appear until the second and third decade of the patient's life. As many of the patients are asymptomatic and symptoms may not appear until later in life, the duration or frequency of the symptoms varies. For symptoms such as palpitations, ventricular overload, heart failure, and pulmonary congestion, these symptoms may be sudden and not that frequent as they are very severe symptoms. For symptoms such as loud mitral S1, pulmonary S2, mid-diastolic murmur, fatigue, reduced exercise tolerance, weight gain, ankle edema, and right upper quadrant pain, and ascities, these symptoms may be less frequent and severe; their duration may be only a few seconds, minutes, or even months.
Major symptoms
Major symptoms of Lutembacher's syndrome as a result of ASD and MS can range from heart failure to pulmonary congestion. Right ventricular overload and Right-sided heart failure: Both are caused by a large ASD and MS (moderate to severe). Palpitations: This is caused by blood flowing from left atrium to the right atrium causing a higher left atrial pressure and leading to mitral stenosis. Both atria will be dilated (stretched or open) leading to future atrial arrhythmias or atrial fibrillation (Riaz). Pulmonary congestion: When blood or fluid pools within the lungs; this is usually a symptom of mitral stenosis and a small ASD. Loud mitral S1 and wide fixed split of pulmonary S2: The loud sound of the mitral S1 and the wide fixed split of pulmonary S2 is a symptoms of mitral stenosis. The sounds often are caused by a reduced pressure gradient in the mitral area that was caused from decompression of the left atrium from the ASD and a displacement (moving from normal position) of the left ventricular lower portion of the heart to the a large right ventricle. The second heart sound (S2) split is caused by the increase right heart blood flow through the ASD causing a late closing of the pulmonary component of the S2 as well as decreased left ventricular and aortic blood flow. III/IV mid diastolic murmur, early systolic murmur: This heart murmur is caused by an increase blood flow through the tricuspid valve due to ASD; it is heard best in the left lower sternal area or the bottom of the heart (apex).