Supravalvular aortic stenosis as a non-syndromic familial disease. Relevance of familial screening

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Supravalvular aortic stenosis (SAS) is a systemic elastin arteriopathy that may be present in a syndromic condition such as Williams–Beuren syndrome or as an isolated condition [ 1 Pieles G.E. Ofoe V. Morgan G.J. Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams–Beuren syndrome. Congenit Heart Dis. May 22 2013; https://doi.org/10.1111/chd.12087 Crossref PubMed Scopus (8) Google Scholar , 2 Merla G. Brunetti-Pierri N. Piccolo P. Micale L. Loviglio M.N. Supravalvular aortic stenosis: elastin arteriopathy. Circ Cardiovasc Genet. Dec 2012; 5: 692-696 Crossref PubMed Scopus (55) Google Scholar ]. It has also been associated with familial hypercholesterolemia [ [3] Wang Z. Yang Y. Li Z. Zhang X. Lin J. Wang L. Analysis of coronary flow haemodynamics in homozygous familial hypercholesterolaemic adolescents with aortic supravalvular stenosis. Cardiol Young. May 2012; 30: 1-6 Crossref Scopus (25) Google Scholar ]. We present the case of a 37-year-old woman with supraaortic stenosis surgically treated in which a mutation in 9 intron of elastin gene was present (Fig. 1A , transesophageal echocardiography, Fig. 1B, cardiac CT. Both techniques showing supraaortic stenosis at the level of the sinotubular junction, arrow). Familial screening revealed the same pathology in her oldest son (Fig. 1C and D, 2D transthoracic echocardiogram, supraaortic stenosis with a maximum gradient of 118 mm HG). The elastin gene encodes a protein that is one of the two components of elastic fibers. Deletions and mutations in this gene are associated with supravalvular aortic stenosis and autosomal dominant cutis laxa. The identification of the genetic defect in patients with supravalvular aortic stenosis is absolutely necessary for a definitive diagnosis, prognosis, and genetic counseling. Familial screening is mandatory.