{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T12:31:34Z","timestamp":1771504294586,"version":"3.50.1"},"reference-count":19,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,2]]},"abstract":"<jats:p>Supravalvular aortic stenosis (McKusick 18550) is a rare hereditary condition with autosomal dominant transmission. However, the available data have been limited to small family groups which do not allow the definition of the degree of penetrance of the disease. The present study describes a large family with a high frequency of supravalvular aortic stenosis including five generations and 80 subjects, the largest family group with this disease studied so far. The study was carried out prospectively in 66 subjects (clinical examination, ECG, M mode and two dimensional echocardiography). In 14 subjects available data were examined retrospectively. In 10 patients cardiac catheterisation was performed (prospective study in eight). The disease was present in 36 (45%) of the 80 subjects investigated, on the basis of clinical, echocardiographic, and haemodynamic (when available) criteria. The disease was found to be severe in eight cases (22%), moderate in six cases (17%), mild in 13 (36%), and undefined in eight (22%) patients. In one case (3%), multiple pulmonary stenoses were noted in the absence of supravalvular aortic stenosis. Genetic analysis of these data shows, for the first time, the degree of penetrance of the supravalvular aortic stenosis trait (K = 0.86) and confirms that it is transmitted with incomplete penetrance and variable expressivity.<\/jats:p>","DOI":"10.1136\/jmg.26.2.86","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"86-92","source":"Crossref","is-referenced-by-count":17,"title":["Familial supravalvular aortic stenosis: a genetic study."],"prefix":"10.1136","volume":"26","author":[{"given":"F","family":"Chiarella","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F D","family":"Bricarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Lupi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Bellotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Domenicucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Vecchio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1136\/hrt.27.4.547","article-title":"Familial supravalvular aortic stenosis","volume":"27","author":"Logan, W.F.; Jones, E.W.; Walker, E.; Coulshed, N.; Epstein, E.J.","year":"1965","unstructured":"Logan WF, Jones EW, Walker E, Coulshed N, Epstein EJ. Familial supravalvular aortic stenosis. Br Heart J 1965;27: 547-59.","journal-title":"Br Heart J"},{"issue":"31","key":"ref_2","first-page":"375","article-title":"Familial arteriomonary stenoses were found in four cases and pathy with associated pulmonary and systemic arterial stenosis. isolated multiple pulmonary stenoses in one. Since only 13% of the family underwent this examination, the global incidence of this associated pathology might have been underestimated","volume":"1969","author":"McDonald, A.H.; Gerlis, L.M.; Sommerville, J.","unstructured":"McDonald AH, Gerlis LM, Sommerville J. Familial arteriomonary stenoses were found in four cases and pathy with associated pulmonary and systemic arterial stenosis. isolated multiple pulmonary stenoses in one. Since only 13% of the family underwent this examination, the global incidence of this associated pathology might have been underestimated. However, in Br Heart J 1969;31:375-85.","journal-title":"However, in Br Heart J"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/S0022-3476(70)80329-8","article-title":"Systemic and pulmonary artery dysplasia associated with unexpected death in infancy","volume":"77","year":"1970","unstructured":"Strong WB, Perrin E, Liebman J, Silbert DR. Systemic and pulmonary artery dysplasia associated with unexpected death in infancy. J Pediatr 1970;77:233-8.","journal-title":"J Pediatr"},{"key":"ref_4","article-title":"Mendelian inheritance in man. Baltimore: Johns the absence of clinical indications for cardiac catheterisation, it was not considered ethically justifiable for research purposes only to refer other Hopkins","author":"McKusick, V.A.","year":"1986","unstructured":"McKusick VA. Mendelian inheritance in man. Baltimore: Johns the absence of clinical indications for cardiac catheterisation, it was not considered ethically justifiable for research purposes only to refer other Hopkins University Press, 1986."},{"key":"ref_5","first-page":"179","article-title":"Supravalvular aortic stenosis. Clinical and pathologic observations in six patients","author":"O'Connor, W.N.; Davis, J.B.; Geissler, R.; Cottrill, C.M.; Noonan, J.; Todd, E.P.","year":"1985","unstructured":"O'Connor WN, Davis JB, Geissler R, Cottrill CM, Noonan J, Todd EP. Supravalvular aortic stenosis. Clinical and pathologic observations in six patients. 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