A rare case of Lutembacher’s syndrome presenting with low-gradient severe mitral stenosis: case report and literature overview

Lutembacher’s syndrome refers to the rare combination of atrial septal defect and mitral stenosis. This condition is still underdiagnosed despite its distinct clinical, paraclinical, and therapeutic implications.

We report the case of a 60-year-old woman presenting with acute congestive heart failure. Investigations revealed the combination of low-gradient severe rheumatic mitral stenosis and ostium secundum atrial septal defect. Despite the medical team’s conservative management of her condition and recommendation for surgical intervention, the patient chose to discharge herself against medical advice. She died 6 months later.

Lutembacher’s syndrome continues to be a rare condition in our practice. Once low-gradient severe mitral stenosis is diagnosed, it is essential to search for an associated atrial septal defect, especially when there is an early onset of significant right ventricular enlargement or dysfunction or when an intriguing inconsistency exists between the mitral area and the transmitral gradient.