Journal of Pediatric Cardiology and Cardiac Surgery

Vascular Ehlers–Danlos syndrome (vEDS) is a severe connective tissue disorder caused by pathogenic variants in the collagen type III alpha I chain gene (COL3A1), characterized by increased fragility of arteries and hollow organs. Typically, vEDS is diagnosed after complications related to arterial or intestinal tissue fragility. We herein report a case of an 11-year-old girl who was asymptomatically diagnosed with vEDS owing to a family history of sudden death. She was referred to our hospital at 5 years of age, after her father died suddenly at 35 years of age due to a ruptured thoracoabdominal aortic aneurysm. Despite showing no significant clinical features or vascular abnormalities indicative of connective tissue disorders during follow-up, genetic testing at 11 years of age identified a missense mutation in COL3A1, confirming the diagnosis of vEDS. Brain magnetic resonance imaging (MRI) and contrast-enhanced MRI of the thoraco-abdominal viscera revealed no abnormalities. Oral celiprolol therapy was initiated to prevent cardiovascular complications. Although diagnosing vEDS in childhood can be challenging due to its rarity and subtle clinical presentation, it is vital to consider this syndrome in pediatric patients with a family history of early-onset arterial aneurysms, dissections, or gastrointestinal vascular rupture.