Lutembacher syndrome with congenital atrial septal defect in an 18-year-old female: a rare case report

Abstract

Introduction: Lutembacher syndrome (LS) is a rare condition with congenital atrial septal defect (ASD) and mitral stenosis (MS), often post-rheumatic illness. Diagnosis uses Doppler echocardiography, and treatment may involve surgery or percutaneous options. Case presentation: An 18-year-old female presented with worsening dyspnea, orthopnea, and potential undiagnosed rheumatic fever. Chest X-ray showed cardiomegaly. An echocardiogram revealed left atrial dilation and mitral stenosis with regurgitation, aortic valve showed thickening without stenosis, and the right ventricle was mildly dilated; an interatrial shunt was present. Mitral stenosis worsened left-to-right shunt. Discussion: LS results from the balance of ASD and MS. Factors influencing prognosis include pulmonary resistance, ASD size, and mitral stenosis severity. Echocardiography is essential for diagnosis, which revealed left atrial dilation, normal left ventricular function, severe mitral stenosis, and pulmonary valve changes. ECG indicated right ventricular hypertrophy. CXR showed left atrial enlargement and right ventricle enlargement. Treatment included an open heart surgery which replaced the mitral valve and closed the ASD. Conclusion: Lutembacher syndrome, a rare condition combining ASD and mitral stenosis, can cause cardiac failure and pulmonary hypertension if untreated. Given the patient’s stable condition in the early stages of the disease, early surgical or percutaneous intervention is advisable.