Congenital heart disease characterized by the
association of an atrial septal defect with a mitral stenosis (left-to-right
shunt at the atrial level).
First reported by anatomist Johann Friedrich Meckel in a
letter to Albrecht von Haller in 1750.
Uncommon. Prevalence among cases of atrial septal defect
is estimated to be 4%. Prevalence among cases of mitral stenosis is
estimated to be 0.6 to 0.7%. Occurs more frequently in females than in
Unknown. A reported kindred suggested
autosomal dominant inheritance with almost complete penetrance. The
condition is thought to represent a disorder of midline development.
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
Clinical examination suggests the diagnosis and
echocardiography confirms the diagnosis.
Patients may not become symptomatic until adult
life. Symptoms include dyspnea, orthopnea, paroxysmal nocturnal dyspnea,
decreased exercise tolerance, and palpitations. There may be signs of right
ventricular failure. A loud S1 (mitral stenosis) with fixed splitting
of S2 (atrial septal defect) is usually heard. A diastolic parasternal
murmur may be heard and represents increased flow across the tricuspid
valve. Electrocardiographic findings include atrial flutter, atrial fibrillation, incomplete
or complete right bundle branch block, right ventricular hypertrophy, and
right-axis deviation. The chest radiograph demonstrates right atrial
enlargement and prominent pulmonary vasculature and may show signs of
pulmonary venous congestion.
Full history and examination to
establish cardiac and pulmonary reserve. Chest radiograph to exclude
pulmonary edema. Preoperative ECG and review of recent echocardiographic
examinations. Laboratory investigations as indicated by surgical procedure
and patient medications.
Maintain left ventricular preload. Avoid
increases in systemic vascular resistance. Avoid tachycardia, which will
decrease time for left ventricular filling through the stenotic valve.
Maintain ventricular contractility. Use a technique to prevent an increase
in pulmonary vascular resistance and potential reversal of the left-to-right
shunt. Strict precautions regarding air in intravenous lines because of increased
risk of paradoxical embolism.
Anesthetic agents favoring a
sympathomimetic discharge (e.g., pancuronium, desflurane) and
anticholinergic actions (e.g., atropine) are relatively contraindicated.
Consider need for antibiotic prophylaxis against bacterial endocarditis.
Megarbane A, Stephan E, Kassab R, et al: Autosomal dominant secundum
atrial septal defect with various cardiac and noncardiac defects: A new
midline disorder. Am J Med Genet
Steinbrunn W, Cohn K, Selzer A: Atrial septal defect associated with mitral
stenosis. The Lutembacher syndrome revisited. Am J ...