Congenital Heart Disease in a Paralympic Athlete With Klinefelter Syndrome

Sinus venosus atrial septal defects with partial anomalous pulmonary venous return (PAPVR) are rare congenital abnormalities.

A 26-year-old competitive swimmer with Klinefelter syndrome was referred for evaluation after echocardiography revealed right-sided chamber dilation. Multimodality imaging confirmed sinus venosus atrial septal defects with PAPVR of the right upper and middle pulmonary veins draining into the superior vena cava (pulmonary/systemic flow ratio = 1.8). He underwent successful pericardial-patch closure and venous baffling to the left atrium. At 1 year, imaging showed intact repair and unobstructed venous flow. He resumed competitive swimming and remains asymptomatic while training for the 2028 Paralympic Games.

This case illustrates preserved exercise capacity and full postoperative recovery in an athlete with atrial septal defect-PAPVR.

Athletes with congenital heart disease and disability can safely pursue competitive sports. In atrial septal defect, preserved exercise capacity does not exclude hemodynamically significant congenital heart disease.