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.

Abstract excerpt

BACKGROUND: 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 affects the middle layer of the wall of the aorta but also the pulmonary and coronary arteries may be affected. METHODS: We report a family with six affected siblings who were...

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