EFEMP2 and supravalvular aortic stenosis: Mutations in fibulin-4 were linked to autosomal recessive cutis laxa type IB, associated with aortic dissection, and mutations in fibulin-5 with autosomal recessive cutis laxa type IA, associated with supravalvular aortic stenosis (SVAS) and peripheral pulmonary artery stenosis [114].