Gerbode defect misinterpreted as pulmonary hypertension

Survival into adulthood is now routine for patients with congenital heart disease (CHD). Adult cardiology practices increasingly encounter these patients, however, are often challenged by the complexity of the cardiac lesions, prior surgical interventions, and associated conditions. We describe a case of a 64-year-old woman with history of CHD and multiple operations, including surgical aortic valve replacement, who presented for routine evaluation. During transthoracic echocardiogram she was believed to have idiopathic severe pulmonary hypertension (tricuspid regurgitation velocity of 4.6 m/s) and a ventricular septal defect (VSD). Consequently, she was referred to a pediatric CHD center. On noninvasive evaluation it became clear that a flow jet through a Gerbode defect, from left ventricle to right atrium, had led to the initial misdiagnosis of severe pulmonary hypertension. The patient was reassured that the VSD was small, restrictive, and that the pulmonary pressures were normal. <Learning objective: Recognition of a left ventricle-to-right atrial shunt (Gerbode defect) is challenging in the adult congenital heart patient. However, this diagnosis can be made with a noninvasive imaging strategy in the context of a high clinical suspicion: A combination of transthoracic echocardiography and cardiac MRI findings of a high velocity "tricuspid regurgitation jet" but normal appearing right ventricular pressures in someone with prior subaortic membrane and aortic valve surgery led to the diagnosis of a Gerbode defect in our patient.>.