Lutembacher's syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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| Lutembacher's syndrome | |
|---|---|
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| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Shortness of breath, fatigue, palpitations, cyanosis |
| Complications | Heart failure, pulmonary hypertension |
| Onset | |
| Duration | |
| Types | |
| Causes | Atrial septal defect, mitral stenosis |
| Risks | |
| Diagnosis | Echocardiography, cardiac catheterization |
| Differential diagnosis | |
| Prevention | |
| Treatment | Surgical repair, percutaneous intervention |
| Medication | Diuretics, beta blockers, anticoagulants |
| Prognosis | |
| Frequency | |
| Deaths | |
Lutembacher's syndrome is a rare medical condition characterized by a combination of mitral stenosis and atrial septal defect. It was first described by the French physician René Lutembacher in 1916.
Etiology
The etiology of Lutembacher's syndrome is not fully understood. It is believed to be a combination of congenital and acquired factors. The atrial septal defect is usually congenital, while the mitral stenosis is typically acquired, often as a result of rheumatic fever.
Clinical Presentation
Patients with Lutembacher's syndrome may present with symptoms of both right and left heart failure. These can include dyspnea, palpitations, fatigue, and edema. On physical examination, signs of mitral stenosis and atrial septal defect may be present, such as a loud first heart sound, a mid-diastolic murmur, and a fixed split second heart sound.
Diagnosis
The diagnosis of Lutembacher's syndrome is typically made based on the clinical presentation and confirmed with imaging studies. Echocardiography is the imaging modality of choice and can demonstrate both the atrial septal defect and mitral stenosis. Other diagnostic tests may include electrocardiography and cardiac catheterization.
Treatment
The treatment of Lutembacher's syndrome is aimed at managing the symptoms and preventing complications. This can include medications to control heart rate and rhythm, diuretics to manage fluid overload, and anticoagulation to prevent thromboembolic events. In some cases, surgical intervention may be necessary to repair the atrial septal defect and/or replace the mitral valve.
Prognosis
The prognosis of Lutembacher's syndrome is variable and depends on the severity of the mitral stenosis and atrial septal defect, as well as the patient's overall health. With appropriate treatment, many patients can lead a normal life.
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Contributors: Prab R. Tumpati, MD
