Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood

We describe a family with six siblings showing elastin arteriopathy with variable disease severity and outcome. A novel pathogenic ELN gene variant was detected in five of them, indicating that there are obviously yet unknown genetic and environmental modifying factors that affect the severity and outcome in individual patients.