Lutembacher Syndrome

At a glance

It is a congenital heart disease characterized by the association of an atrial septal defect (ASD) with a mitral stenosis (MS) causing a severe left-to-right shunt at the atrial level. The potential complications of this cardiac association are pulmonary congestion and right ventricle failure as a result of right ventricular fluid overload. Patients affected are symptomatic when they have a large ASD and MS (moderate to severe).

Synonym

Lutembacher Disease.

History

This medical condition was first reported by anatomist Johann Friedrich Meckel in a letter to Albrecht von Haller in 1750. The clinical description was provided in 1915 by Maude E. S. Abbott (1869-1940), a Canadian Physician established as a World Expert in congenital heart diseases. She was born in the Province of Quebec and became the first woman to obtain a BA degree from McGill University. Subsequently, it was described by a French cardiologist by the name of René Lutembacher (1884-1968) in Paris, France in 1916. The first case reported in the literature undergoing anesthesia and reviewing the complications was presented by S. Berinkoff and published in 1946.

Incidence

The exact incidence remains unknown as it is a very rare disorder. The prevalence among cases of atrial septal defect is estimated at 4%. The prevalence among cases of mitral stenosis is estimated at 0.6 to 0.7%. It occurs more frequently in females than in males. It affects children or adults. It is either congenital (atrial septal defect) or acquired (mitral valve stenosis) later in life.

Genetic inheritance

Unknown. A reported kindred suggested autosomal dominant inheritance with almost complete penetrance. The condition is thought to represent a disorder of midline development.

Pathophysiology

Lutembacher Syndrome is classically described as a secundum atrial septal defect associated with mitral stenosis. The mitral stenosis is often rheumatic rather than congenital in origin. An atrial septal defect may be protective in mitral stenosis by providing a conduit for decompression of the left atrium and pulmonary venous system. However, mitral stenosis worsens the prognosis of an uncomplicated atrial septal defect by increasing right ventricular work and pulmonary blood flow, resulting in pulmonary hypertension. Central venous pressure is elevated in this syndrome.

Diagnosis

Clinical examination suggests the diagnosis and transthoracic or transesophageal echocardiography with Doppler imaging confirms the diagnosis. At auscultation, the presence of a loud mitral S₁ and wide fixed split of pulmonary S₂ associated with a diastolic tricuspid valve murmur (III/IV) and early systolic murmur are characteristics of the disease. This heart murmur best heard in the left lower sternal area or the apex. Cardiac catheterization will subsequently be used to confirm the diagnosis, measure pressure gradient, and extend of the valvular defects, establish ...