Lutembacher syndrome – atrial septal defect with mitral stenosis

Lutembacher syndrome – atrial septal defect with mitral stenosis

The original description of Lutembacher syndrome was as a combination of atrial septal defect with mitral stenosis [1]. Though Lutembacher thought that both atrial septal defect and mitral stenosis were congenital, it is likely that in that 61 year old lady, the atrial septal defect was congenital and mitral stenosis of rheumatic etiology. Later on several authors called a combination of atrial septal defect with any mitral valve lesion (stenosis, regurgitation or a combination) as Lutembacher syndrome [2]. Some expanded it to include any left to right shunt at the atrial level [3]. Recently even atrial level shunts created by septal puncture for balloon mitral valvotomy has been included in the spectrum of Lutembacher syndrome [4].

Presence of the two lesions have significant hemodynamic effects on the other lesion. The large unrestrictive atrial septal defect lowers the left atrial pressure and gradient across the mitral valve so that findings of mitral stenosis may be obscured and so will be the features of pulmonary venous congestion. In the presence of a large atrial septal defect, even a small gradient across the mitral valve is to be taken as significant. The obstruction to the left ventricular inflow on the other hand enhances the left to right shunt across interatrial septum so that torrential left to right shunts are likely in Lutembacher syndrome. This manifests as prominent right ventricular outflow murmur with a thrill. Cardiomegaly is also common.

Traditionally, Lutembacher syndrome is tackled surgically. Open mitral valvotomy or mitral valve replacement is done along with surgical closure of the atrial septal defect [5].

Joseph G et al has described complete percutaneous management of Lutembacher syndrome [6]. They closed the atrial septal defect with an Amplatzer septal occluder and dilated the stenotic mitral valve with Joseph balloon mitral valvotomy balloon (JOMIVA balloon).

Bhambhani A et al have described the technical challenges of balloon mitral valvotomy in the presence of large atrial septal defect [7]. The large ASD makes the Inoue balloon catheter unstable and entry into the left ventricle difficult.

References

1. Lutembacher R. De la stenose mitrale avec communication interauriculaire. Archives des maladies du coeur et des vaisseaux, Paris, 1916, 9: 237-260.
2. Bashi VV, Ravikumar E, Jairaj PS, Krishnaswami S, John S. Coexistent mitral valve disease with left-to-right shunt at the atrial level: clinical profile, hemodynamics, and surgical considerations in 67 consecutive patients. Am Heart J. 1987 Dec;114(6):1406-14.
3. Goldfarb B, Wang Y. Mitral stenosis and left to right shunt at the atrial level. A broadened concept of the Lutembacher syndrome. Am J Cardiol. 1966 Mar;17(3):319-26.
4. Mahajan K, Oliver TI. Lutembacher Syndrome. 2020 Jul 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–. PMID: 29261938.
5. Bahl VK, Math RS. Juvenile mitral stenosis and Lutembacher’s syndrome. Vol. 16, N° 16 – 04 Jul 2018.
6. Joseph G, Abhaichand Rajpal K, Kumar KP. Definitive percutaneous treatment of Lutembacher’s syndrome. Catheter Cardiovasc Interv. 1999 Oct;48(2):199-204.
7. Bhambhani A, Somanath HS. Percutaneous treatment of Lutembacher syndrome in a case with difficult mitral valve crossing. J Invasive Cardiol. 2012 Mar;24(3):E54-6. PMID: 22388316.