Lutembacher's syndrome is a very rare form of congenital heart disease that affects one of the chambers of the heart (commonly the atrium) 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).
Minor symptoms Fatigue: symptoms is caused by decreased systemic (oxygenated blood to the rest of the body) flow. When the patient has MS and the blood flows from the left atrium to the right atrium causes the forward blood flow into the left ventricle to reduce leading to a reduction of systemic blood flow; this causes tiredness. Reduced exercise tolerance: symptoms also caused by decreased systemic (oxygenated blood to the rest of the body) flow. Just as with fatigue, when the patient has MS and the blood flows from the left atrium to the right atrium, the forward blood flow into the left ventricle is reduced leading to a reduction of systemic blood flow; this causes tiredness and hence a reduced exercise tolerance. Weight gain: this is commonly found in patients with large ASD and can be a symptom of developing right-sided heart failure. As there is a chronically increased left-to-right blood flow through the atria, this will lead in the future to right-sided heart failure. Ankle edema: This is also caused by a large ASD and has the same symptoms and causes as seen in weight gain and right upper quadrant pain. As blood flow is not happening correctly and the heart is pumping under strain, pooling of blood and fluid will happen in the ankles. Right upper quadrant pain: Also caused by large ASD; has same symptoms and underlying causes as weight gain and ankle edema. Ascites: Ascite is known as abnormal buildup of fluid in spaces between abdomen lining and abdominal organs. Same symptoms and causes as weight, gain, ankle edema, and right upper quadrant pain.
Less common symptoms Paroxysmal nocturnal dyspnea, orthopnea, and hemoptysis (sign of pulmonary venous congestion): this symptoms are less frequent in Lutembacher's syndrome and are more associated with MS and small ASD or patients who develop reverse Lutembacher's syndrome. This symptom is caused by mitral stenosis.
Related disorders Eisenmenger syndrome Ventricular Septal Defect Mitral regurgitation Ebstein disease
Causes Lutembacher is caused indirectly by heart damage or disorders. Lutembacher's syndrome is caused by either birth defects where the heart fails to close all holes in the walls between the atria or from an episode of rheumatic fever where damage is done to the heart valves such as the mitral valve and resultant in an opening of heart wall between atria. With Lutembacher's syndrome, a fetus or infant is usually seen to have a hole in their heart wall (interatrial) separating their right and left atria. Normally during fetal development, blood bypasses the lungs and is oxygenated from the placenta. Blood passes from the umbilical cord and flows into the left atrium through an opening called the foramen ovale; the foramen ovale is a hole between the two atria. Once a baby is born and the lungs begin to fill with air and the blood flow of the heart changes, a tissue flap (somewhat like a trap door) called the septum primum closes the foramen ovale or hole between the two atria and becomes part of the atrial wall. The failure of the hole between the two atria to close after birth leads to a disorder called ASD primum. The most common problems with an opening found in the heart with Lutembacher's syndrome is Ostium Secundum. Ostium Secundum is a hole that is found within the flap of tissue (septum primum) that will eventually close the hole between the two atria after birth. With either type of ASD, ASD will usually cause the blood flow from the right atrium to skip going to the right ventricle and instead flow to the left atrium. If mitral stenosis (the hardening of flap of tissue known as a valve which opens and closes between the left atrium and ventricle to control blood flow) is also present, blood will flow into the right atrium through the hole between the atria wall instead of flowing into the left ventricle and systemic circulation. Eventually this leads to other problems such as the right ventricle failing and a reduced blood flow to the left ventricle.
In addition to the ASD, MS can either be acquired (present either from an episode of rheumatic fever or the mother has or had rheumatic fever during the pregnancy) or congenital (the child being born with the disorder). With the combination of both ASD and MS, the heart can be under severe strain as it tries to move blood throughout the heart and lungs.
Mechanism
There is no exact mechanism for Lutembacher's syndrome but instead a combination of disorders as the result of Atrial septal defect (ASD) and/or Mitral valve stenosis.It is thought ASD is caused by the failure to close the hole (foramen ovale) between the right and left atrium normally found within the heart during fetal development; the creation of a hole between the atrium may also be acquired. There are two types of ASD: Ostium secundum and ASD Primum.
Atrial Septal Defect Primum The failure of the hole between the right and left atrium to close shortly after birth is the cause behind ASD primum. During fetal development blood will pass from the umbilical cord and flow into the left atrium through a hole between the two atria. Once a baby is born and the lungs begin to fill with air, the blood flow of the heart changes; a tissue flap (septum primum) normally closes the hole (foramen ovale) between the two atria and becomes part of the atrial wall. During ASD primum, after birth the hole is not completely closed allowing blood to flow into the right atria from the left atria. Then blood pass to right ventricle this will increase pulmonary artery pressure Due to the incorrect blood flow, symptoms such as fatigue (from decreased systemic blood flow), palpitations (from blood flowing from left atria to right atria), weight gain, edema, right upper chest pain (all caused from the left to right atria blood flow), and paroxysmal nocturnal dyspnea (shortness of breath during sleep), orthopnea (difficulty in breathing while lying down), and hemoptysis or coughing up blood (all caused by small ASD that cause blood flow from left to right atria).
Atrial Septal Defect Ostium secundum During the more common form of Lutembacher's syndrome, ASD Ostium secundum, a hole will form in the flap of tissue (septum primum) that should close between the two atria after birth. With the onset of a hole created in the tissue flap that closes the larger hole between the left and right atrium, blood can again flow from the left atrium to the right. Ostium secundum causes many of the same symptoms seen in ASD primum. With either type of ASD, blood will flow from the right atrium skipping the right ventricle (or very little flowing into the ventricle) and instead flow to the left atrium introducing the possibility of blood lacking oxygen to go the rest of the body. Sometimes, the direction of blood flow is largely determined by the left and right ventricle ability to squeeze (contract) and relax (compliance).
Apart from congenital or birth defects causing ASD, ASD is thought to be also acquired. During percutaneous interventional procedures such as mitral valvuloplasty (a surgical process done to repair a mitral valve), 11-12% of individuals will develop ASD allowing blood to flow from the left atrium to the right.
Mitral Valve Stenosis