Aortic dilatation has not yet been documented in nine other known cases of selenoprotein deficiency, but as other patients harbour different, pathogenic SECISBP2 variants or were described in childhood or early adolescence (age 2–14 years)20, it is conceivable that the development of aortopathy may vary, either depending on underlying SECISBP2 variant genotype or manifest at an older age due to oxidative tissue damage being cumulative. The gene discussed is SECISBP2; the disease is Vascular dilatation.