Hyperpolarized Xe Pulmonary MRI and Asymptomatic Atrial Septal Defect.

In an asymptomatic 19-year-old who regularly underwent cardiopulmonary fitness testing for national lifeguard-accreditation, Xe MRI unexpectedly revealed an abnormally augmented RBC signal and RBC-to-alveolar-capillary-tissue ratio with spatially homogeneous ventilation, tissue barrier, and RBC images. Pulmonary function was normal, but cardiopulmonary follow-up including transthoracic and transesophageal echocardiogram, heart catheterization, and contrast-enhanced cardiac CT imaging led to the diagnosis of a large (20 × 27 mm) secundum atrial septal defect (ASD) with a net right-to-left shunt (Qp:Qs = 0.5) and normal pulmonary pressures. This novel, unexpected case revealed that Xe RBC signal intensity likely reflected erythrocytosis, compensatory to the abnormal cardiovascular hemodynamics that resulted from a large congenital ASD. Unlike ASD cases that present with dyspnea and exercise limitation, this Xe MRI abnormality was detected in an asymptomatic teenager. This is the first report of asymptomatic adult congenital heart disease diagnosed subsequent to novel Xe MRI that led to early intervention, avoiding long-term complications of cyanosis, including ventricular fibrosis and thromboembolic and bleeding risks.