Case Presentation: A 56 year old male with no prior medical or surgical history presented to the hospital with fatigue, palpitations, shortness of breath, and bilateral ankle swelling for 2 months. He had also developed 4 pillow orthopnea and paroxysmal nocturnal dyspnea but denied any chest pain or history of recurrent infections. He noted that as a child in Central America, it was difficult for him to play as energetically as other children. Unfortunately, due to his social situation, this was never evaluated. He denied any family history of cardiac or pulmonary disease. He was noted to be saturating at 93% on ambient air and had jugular venous distention with an estimated central venous pressure of 15 cm H2O. His cardiac exam demonstrated a fixed split S2 and II/VI systolic murmur best heard at the left lower sternal border. His pulmonary exam was unremarkable and his extremities had bilateral edema up to his ankle. A transthoracic echocardiogram revealed anomalous pulmonary venous return and a large secundum atrial septal defect (ASD) later confirmed by cardiac catheterization. To clarify his anatomy and plan for surgical repair, he also underwent a transesophageal echocardiogram, cardiac MRI, CT angiogram of the chest, and a right heart catheterization with an oximetry run. He was diagnosed with Type 1 total anomalous pulmonary venous return (TAPVR) associated with a large secundum type ASD which had led to a dilated right atrium, right ventricle, and right pulmonary artery. He ultimately underwent surgical repair of his TAPVR by anastomosing the vertical vein to the left atrial appendage, and his ASD was closed using a pericardial patch.
Discussion: Total anomalous pulmonary venous return (TAPVR) is a rare cyanotic congenital heart defect seen in neonates which carries up to an 80% mortality rate at 1 year of age if untreated. In patients with TAPVR, the four pulmonary veins fail to return oxygenated blood to the left atrium, instead draining into the systemic venous system. TAPVR has several anatomical variants making its presentation highly variable ranging from life-threatening cyanosis at birth to mild dyspnea on exertion. The severity and timing of presentation depend on the size of the interatrial defect and whether or not the anomalous pulmonary veins are obstructed. The case presented was a rare instance of TAPVR diagnosed in an adult patient.
Conclusions: Hospitalists should understand the physiology and anatomical variances of TAPVR as certain forms may rarely present in adulthood if unevaluated earlier. Specifically crucial to understand is that TAPVR invariably leads to right heart failure if untreated; thus, all patients require surgical repair. Our patient was fortunate to have a less severe type of this rare defect and survived into adulthood without significant symptoms; however, he too eventually developed right sided heart failure and required treatment.