An unusual cause of dyspnea diagnosed late in life: severe pulmonary hypertension resulting from isolated anomalous pulmonary venous connection.

A 67-year-old US military veteran was referred to our clinic for evaluation of progressive dyspnea on exertion over the previous 2 years. His medical history was significant for systemic hypertension, obstructive sleep apnea, and the absence of primary lung disease, significant tobacco use, or coronary artery disease. At the time of consultation, his peripheral blood oxygenation saturation was 85%, hepatojugular reflux and lower-extremity edema were noted, and 6-minute walk distance was 34 m. Transthoracic echocardiography demonstrated normal left ventricular systolic structure and function, a severely dilated right ventricle, and a tricuspid regurgitant jet velocity of 4.85 m/s, indicating an estimated pulmonary artery systolic pressure of 94 mm Hg. However, an elevated flow velocity of 65 cm/s was detected by Doppler interrogation of the posterior aspect of the right atrium adjacent to the interatrial septum. To investigate this further, transesophageal echocardiography was performed, which demonstrated a 1.2-cm communication between the right upper pulmonary vein and the superior vena cava (Figure 1A) and a respirophasic bidirectional shunt through this lesion (Figure 1B and Video I in the online-only Data Supplement). Three-dimensional echocardiography (Figure 2A and Video II in the online-only Data Supplement) and multislice 3-dimensional reconstructive computed tomographic angiography (Figure 2B) characterized the defect further and confirmed a normal anatomic origin and insertion of the right upper pulmonary vein …