Left main stem fistula masquerading as an atrial septal defect in a gentleman with Schuurs-Hoeijmakers syndrome

摘要

A 20-year-old gentleman with Schuurs-Hoeijmakers syndrome; a rare genetic disease characterized by intellectual disability and distinctive facial features, presented due to fatigue and poor exercise tolerance. Congenital heart defects are frequently observed in this patient group, a large proportion of which are reported to be atrial septal defects.