Congenital Heart Disease in a Paralympic Athlete With Klinefelter Syndrome

Scritto il 16/06/2026
da Francisco B Alexandrino

JACC Case Rep. 2026 Jun 3:108748. doi: 10.1016/j.jaccas.2026.108748. Online ahead of print.

ABSTRACT

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

CASE SUMMARY: 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.

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

TAKE-HOME MESSAGES: 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.

PMID:42301175 | DOI:10.1016/j.jaccas.2026.108748