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
Sini Keskinen, Jussi Niemelä, Hannele Koillinen, Talvikki Boldt, Anita ArolaTurku University Hospital and University of Turku. New Children’s HospitalFinland Cardiovascular Revascularization MedicineCardiovasc Revasc Med 2025; DOI: 10.1016/j.carrev.2025.04.027 AbstractBackground: Supravalvular aortic stenosis (SVAS) is an autosomal dominantly inherited congenital cardiovascular disease caused by disruption of elastin gene (ELN), encoding elastin, an essential component of elastic arteries. It usually […]
