Lutembacher's syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor-in-Chief: Ayokunle Olubaniyi, M.B,B.S

Overview

Lutembacher's syndrome is a rare form of congenital heart disease. It refers to a combination of congenital atrial septal defect, or even a patent foramen ovale (PFO) complicated by an acquired mitral stenosis.[1] The atrial septal defect is usually a specific type called a secundum atrial septal defect. This syndrome was named after René Lutembacher, a french cardiologist.

Pathophysiology

The presence of both ASD and mitral stenosis occuring together, usually modify the clinical and hemodynamic manifestation of each other. The presence of an ASD creates a second exit (left-to-right shunt) for the blood in the left atrium; consequently reducing the hemodynamic effects of a severe mitral stenosis. In the same fashion, the pressure in the left atrium, pulmonary veins and the pulmonary capillaries decrease if the ASD is large. Therefore, the typical presentation of mitral stenosis as a result of pulmonary venous congestion such as orthopnea, paroxsymal nocturnal dyspnea, hemoptysis and pulmonary edema are attenuated or diminished, and are often substituted by symptoms of low volume output such as weakness and fatigue.[2]

Epidemiology and Demographics

This is a very rare disease. The incidence is 0.001/1000000[3]. This syndrome is more frequently seen in adults because the mitral stenosis is usually an acquired valvulopathy of rheumatic origin. It is also more commonly observed in female patients because both ASD and MS are more prevalent in this gender.[2]

Complications and Prognosis

Complications are usually related to a late diagnosis. They include pulmonary hypertension and heart failure. Early diagnosis and surgical treatment has a good prognostic value.

Diagnosis

History and Symptoms

The presentation depends on the size of ASD, extent of mitral stenosis, compliance of the right ventricle and degree of changes in the pulmonary circulation.[2].

Physical Examination

Chest X Ray

Echocardiography

Treatment

Medical Therapy

Surgery

References

  1. Goldman 2011, pp. 400
  2. 2.0 2.1 2.2 Olivares-Reyes A, Al-Kamme A (2005). "Lutembacher's syndrome with small atrial septal defect diagnosed by transthoracic and transesophageal echocardiography that underwent mitral valve replacement". J Am Soc Echocardiogr. 18 (10): 1105. doi:10.1016/j.echo.2005.01.017. PMID 16198889.
  3. Berry NS, Bauman JL, Gallastegui JL, Bauma W, Beckman KJ, Hariman RJ (1988). "Analysis of antiarrhythmic drug concentrations determined during electrophysiologic drug testing in patients with inducible tachycardias". Am J Cardiol. 61 (11): 922–4. PMID 3354470.


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