Lutembacher's syndrome and persistent left superior vena cava in a young female

ABSTRACT

We report the case of a 28-year-old woman with ostium secundum atrial septal defect, mitral stenosis and a persistent left superior vena cava, who developed heart failure at age 17 and was admitted at different institutions for shortness of breath. The patient had one complicated pregnancy at age 25 in which she presented with worsening heart failure. She was able to deliver her baby via spontaneous vaginal delivery under epidural anesthesia, but had to stay admitted for an additional 3 weeks. Two-dimensional echocardiogram with doppler studies showed an ostium secundum atrial septal defect, severe rheumatic mitral stenosis (Mitral Valve Area = 0.60 cm2 by planimetry and 0.90 cm2 by pressure half-time), severe tricuspid regurgitation, mild aortic regurgitation, pulmonary regurgitation with severe pulmonary hypertension, and a dilated coronary sinus. During bubble contrast study, micro-bubbles from the agitated saline appeared initially in the coronary sinus before appearing in the right sided chambers, suggesting the presence of a persistent left superior vena cava. Cardiac magnetic resonance imaging confirmed the initial echocardiographic findings. Cardiac catheterization and venography confirmed the presence of a persistent left superior vena cava which was draining into a markedly dilated coronary sinus, a severe mitral stenosis (MVA=0.86 cm2), an atrial septal defect with a left-to-right shunt (QpQs = 21), and severe pulmonary hypertension. The combination of an atrial septal defect and mitral stenosis is rare, with an incidence ranging from 0.6 to 4% among those with congenital disease. The incidence of the combination of the three lesions - ASD, mitral stenosis and persistent left superior vena cava - is unknown. Since the pulmonary vascular disease was still reversible based on the hemodynamic studies, the plan was to have the patient undergo mitral valve replacement, tricuspid valve annuloplasty, and patch closure of the atrial septal defect. Before any surgical procedure could be done however, the patient succumbed to heart failure.