A Case Report of Total Anomalous Pulmonary Vein Connection in Adult, through application of multi-modality imaging

Total Anomalous Pulmonary Vein Connection (TAPVC) is often reported in neonates and children. This report demonstrates an unusual adult TAPVC that the patient is survived in the fourth decade of life. It was diagnosed via application of echocardiography paired with multi detector-row computed tomography angiography. A 39-year-old man was referred for evaluation of dyspnea and cyanosis at rest worsening with exertion. On physical examination, decreased oxygen saturation, clubbing, and central and peripheral cyanosis were detected. In primary evaluation, large Atrial Septal Defect (ASD) was discovered. Cardiac catheterization showed a large ASD and benign variant of Persistent Left Superior Vena Cava (PLSVC). On Trans-Thoracic Echocardiography (TTE), no pulmonary hypertension was defined in direct contradiction of Eisenmenger syndrome. Due to suspicion of a complex shunt, he underwent Trans-Esophageal Echocardiography (TEE) followed by CT-angiography. Both of these image modalities clearly demonstrated the presence of TAPVC in addition to ostium secundum ASD. Due to the change in the main diagnosis, he underwent surgical correction with immediate and complete relief of both cyanosis and dyspnea after operation. Although some complex congenital heart diseases are usually seen in newborns and infants, their presence in adulthood is not impossible. Thus, some unusual findings similar to presence of cyanosis in the absence of pulmonary hypertension should be questioning. In such cases, alternative imaging studies can provide additional guidance in diagnosis. It is not an infrequent occurrence, as this case underscores, where more complete imaging overturns an initial diagnosis leading to completely different management.