Abstract 11863: Lutembacher Syndrome - Learning From the Left Atrium

Abstract

Lutembacher syndrome (LS) is a rare cardiac anomaly that was first reported in 1916 by Rene Lutembacher. LS is characterized by an atrial septal defect (ASD) combined with mitral stenosis (MS), both of which can be either congenital or acquired. Without treatment, pulmonary vascular resistance (PVR) steadily increases and can cause right-to-left ASD shunting. This greatly increases the risk of infective endocarditis (IE) and cerebrovascular accidents (CVA). - We present a 69-year-old female with past medical history of laryngeal cancer that presented with dyspnea and hemoptysis. The patient had NYHA class II symptoms and had not undergone prior cardiac work-up. - Transthoracic echocardiogram demonstrated a reduced ejection fraction 35%, calcifies mitral valve leaflets, and abnormal flow across the interatrial septum. Subsequent transesophageal echocardiogram confirmed the diagnosis of Lutembacher Syndrome with a mean mitral valve gradient of 15 mmHg and evidence of a secundum ASD. There was predominant left-to-right shunting during bubble study with transient right-to-left shunt while coughing. Moderate to severe mitral regurgitation and severe pulmonary hypertension was also observed. Wilkins score was calculated at 7. The patient was ultimately transferred to a Comprehensive Valve Center for surgical mitral valve replacement (MVR). - This case highlights the importance of understanding the pathophysiology of LS for efficient diagnosis and appropriate management. Early evaluation at a Comprehensive Valve Center is recommended. Moderate to severe mitral regurgitation is a contraindication to less invasive options such as a percutaneous mitral balloon commissurotomy (PMBC). It is crucial to recognize that after surgical MVR, the secundum ASD is expected to become smaller with predominant left-to-right shunting due to reduced PVR, which decreases the risk of IE and CVA.