LUTEMBACHER SYNDROME: A RARE CASE REPORT

Abstract

Lutembacher syndrome (LS) is a rare cardiac condition characterized by the coexistence of atrial septal defect (ASD) and mitral stenosis (MS). Although first described in 1916, its definition has since broadened to include combinations of congenital or acquired ASD with congenital or rheumatic MS. The hemodynamic interplay between these two lesions creates a distinctive clinical profile. Left atrial decompression via left-to-right shunting may delay symptoms of pulmonary congestion typically seen in isolated MS, while chronic right-sided volume overload contributes to early development of pulmonary arterial hypertension (PAH), right ventricular dilation, arrhythmias, and heart failure. We report the case of a 53-year-old woman who presented with progressively worsening dyspnea, pedal edema, and atrial fibrillation. Physical examination revealed signs of right-sided heart failure, including elevated jugular venous pressure and peripheral edema. Chest imaging demonstrated cardiomegaly, and echocardiography confirmed a large ostium secundum ASD with moderate MS, severe tricuspid regurgitation, severe PAH, and preserved left ventricular systolic function. Laboratory evaluation additionally revealed renal dysfunction and newly diagnosed hypothyroidism.

The patient’s constellation of findings supported a diagnosis of Lutembacher syndrome. Given the advanced stage of PAH, right-sided dilation, arrhythmia, and multiorgan involvement, a multidisciplinary evaluation was undertaken to optimize clinical management. While medical therapy provided symptomatic relief, definitive management of both the ASD and MS was considered essential to prevent further clinical deterioration. This case underscores the importance of early recognition and comprehensive evaluation of patients with long-standing dyspnea, particularly in regions with high prevalence of rheumatic heart disease. Timely intervention can significantly improve outcomes and reduce complications such as right-heart failure and arrhythmias.