{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:27:18Z","timestamp":1787498838443,"version":"build-2736575974"},"reference-count":46,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1999,12,1]],"date-time":"1999-12-01T00:00:00Z","timestamp":944006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[1999,12]]},"DOI":"10.1016\/s0022-3476(99)70088-0","type":"journal-article","created":{"date-parts":[[2005,11,5]],"date-time":"2005-11-05T07:37:57Z","timestamp":1131176277000},"page":"703-706","source":"Crossref","is-referenced-by-count":200,"title":["Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal"],"prefix":"10.1016","volume":"135","author":[{"given":"Bruno","family":"Marino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Toscano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aldo","family":"Giannotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/S0022-3476(99)70088-0_bib1","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1001\/archpedi.1968.02100020377005","article-title":"Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease","volume":"116","author":"Noonan","year":"1968","journal-title":"Am J Dis Child"},{"key":"10.1016\/S0022-3476(99)70088-0_bib2","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/ajmg.1320210312","article-title":"Noonan syndrome: a review","volume":"21","author":"Mendez","year":"1985","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib3","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.24.1.9","article-title":"Noonan syndrome","volume":"24","author":"Allanson","year":"1987","journal-title":"J Med Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib4","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1136\/adc.67.2.178","article-title":"A clinical study of Noonan syndrome","volume":"67","author":"Sharland","year":"1992","journal-title":"Arch Dis Child"},{"key":"10.1016\/S0022-3476(99)70088-0_bib5","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/0002-9149(70)90612-0","article-title":"Characteristic cardiovascular anomalies of X0 Turner syndrome, XX and XY phenotype, and X0\/XX Turner mosaic","volume":"25","author":"Nora","year":"1970","journal-title":"Am J Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib6","first-page":"1417","article-title":"Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome","volume":"129","author":"Nora","year":"1975","journal-title":"Am J Dis Child"},{"key":"10.1016\/S0022-3476(99)70088-0_bib7","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1136\/hrt.34.1.41","article-title":"Congenital heart disease in male and female subjects with somatic features of Turner\u2019s syndrome and normal sex chromosome (Ullrich\u2019s and related syndromes)","volume":"34","author":"Siggers","year":"1972","journal-title":"Br Heart J"},{"key":"10.1016\/S0022-3476(99)70088-0_bib8","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1136\/hrt.35.1.99","article-title":"Cardiomyopathy in Noonan syndrome","volume":"35","author":"Phornphutkul","year":"1973","journal-title":"Br Heart J"},{"key":"10.1016\/S0022-3476(99)70088-0_bib9","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1136\/hrt.40.5.500","article-title":"Cardiovascular malformations in Turner\u2019s and Noonan\u2019s syndrome","volume":"40","author":"Van der Hauwaert","year":"1978","journal-title":"Br Heart J"},{"key":"10.1016\/S0022-3476(99)70088-0_bib10","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/0735-1097(93)90436-5","article-title":"Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment in 118 patients","volume":"22","author":"Burch","year":"1993","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib11","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.1320620404","article-title":"Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot [letter]","volume":"62","author":"Digilio","year":"1996","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib12","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1161\/01.CIR.52.6.1161","article-title":"Rapidly progressive obstructive cardiomyopathy in infants with Noonan\u2019s syndrome","volume":"52","author":"Hirsch","year":"1975","journal-title":"Circulation"},{"key":"10.1016\/S0022-3476(99)70088-0_bib13","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1007\/BF01958636","article-title":"Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction","volume":"154","author":"Marino","year":"1995","journal-title":"Eur J Pediatr"},{"key":"10.1016\/S0022-3476(99)70088-0_bib14","first-page":"A98","article-title":"Noonan syndrome with left-sided cardiac obstructions [abstract]","volume":"59","author":"Marino","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib15","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s004390050357","article-title":"Noonan syndrome with cardiac left-sided obstructive lesions [letter]","volume":"99","author":"Digilio","year":"1997","journal-title":"Hum Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib16","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<160::AID-AJMG13>3.0.CO;2-A","article-title":"Noonan syndrome and aortic coarctation","volume":"80","author":"Digilio","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib17","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1001\/archpedi.1990.02150340066025","article-title":"Atrioventricular canal in Down\u2019s syndrome","volume":"144","author":"Marino","year":"1990","journal-title":"Am J Dis Child"},{"key":"10.1016\/S0022-3476(99)70088-0_bib18","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/S0022-5223(19)36064-7","article-title":"Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down\u2019s syndrome","volume":"91","author":"De Biase","year":"1986","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib19","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1016\/S0002-9149(84)90861-0","article-title":"Coarctation of the aorta or subaortic stenosis with atrioventricular septal defect","volume":"53","author":"Gow","year":"1984","journal-title":"Am J Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib20","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0022-5223(94)70020-6","article-title":"Surgical repair of subaortic stenosis in atrioventricular canal defects","volume":"108","author":"Starr","year":"1994","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib21","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/BF00796828","article-title":"Unusual combination of congenital heart defects in an infant with Noonan syndrome","volume":"16","author":"Feit","year":"1995","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib22","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1007\/BF02524811","article-title":"Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome [letter]","volume":"17","author":"Marino","year":"1996","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib23","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1002\/ajmg.1320100106","article-title":"A comprehensive scoring system for evaluating Noonan syndrome","volume":"10","author":"Duncan","year":"1981","journal-title":"Am J Med Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib24","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/j.1399-0004.1984.tb02012.x","article-title":"Differential diagnosis of the Williams and the Noonan syndromes","volume":"25","author":"Preus","year":"1984","journal-title":"Clin Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib25","doi-asserted-by":"crossref","first-page":"83","DOI":"10.3109\/15513819209023283","article-title":"Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan\u2019s phenotype","volume":"12","author":"Amman","year":"1992","journal-title":"Pediatr Pathol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib26","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/0002-9149(84)90228-5","article-title":"Aortic dissection in Noonan\u2019s syndrome (46 XY Turner)","volume":"54","author":"Shachter","year":"1984","journal-title":"Am J Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib27","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1093\/oxfordjournals.eurheartj.a059462","article-title":"Aneurysms of the sinuses of Valsalva in Noonan\u2019s syndrome","volume":"10","author":"Morgan","year":"1989","journal-title":"Eur Heart J"},{"key":"10.1016\/S0022-3476(99)70088-0_bib28","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1016\/S0022-5223(95)70077-3","article-title":"Subaortic stenosis in the spectrum of atrioventricular septal defects","volume":"110","author":"Van Arsdell","year":"1995","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib29","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/0735-1097(92)90107-X","article-title":"Fixed subaortic stenosis in atrioventricular canal defect: a Doppler echocardiographic study","volume":"20","author":"Reeder","year":"1992","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib30","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/S0022-5223(19)37284-8","article-title":"Left-sided obstructive lesions in atrioventricular septal defects","volume":"83","author":"Piccoli","year":"1982","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib31","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/S0022-5223(19)36162-8","article-title":"Surgical anatomy of left ventricular outflow tract obstruction in complete atrioventricular septal defect. A concept for operative repair","volume":"94","author":"Chang","year":"1987","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib32","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/S0003-4975(10)61904-2","article-title":"Complete and intermediate atrioventricular canal in infants less than a year old: observations of anatomical and pathological variants in left ventricular outflow tract","volume":"33","author":"Wright","year":"1982","journal-title":"Ann Thorac Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib33","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/BF02238408","article-title":"Anterolateral muscle bundle of the left ventricle in atrioventricular septal defect: Left ventricular outflow tract and subaortic stenosis","volume":"12","author":"Draulans-No\u00eb","year":"1991","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/S0022-3476(99)70088-0_bib34","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/S0022-5223(19)37505-1","article-title":"Unusual mitral valve abnormalities complicating surgical repair of endocardial cushion defects","volume":"85","author":"Ilbawi","year":"1983","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib35","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1136\/hrt.37.1.60","article-title":"Familial pulmonary stenosis with underdeveloped or normal right ventricle","volume":"37","author":"Klinge","year":"1975","journal-title":"Br Heart J"},{"key":"10.1016\/S0022-3476(99)70088-0_bib36","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1136\/jmg.18.1.8","article-title":"Risks to offspring of patients with some common congenital heart defects","volume":"18","author":"Dennis","year":"1981","journal-title":"J Med Genet"},{"key":"10.1016\/S0022-3476(99)70088-0_bib37","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1161\/01.CIR.84.3.1188","article-title":"Anomalous insertion of papillary muscle directly into anterior mitral leaflet in hypertrophic cardiomyopathy. Significance in producing left ventricular outflow obstruction","volume":"84","author":"Klues","year":"1991","journal-title":"Circulation"},{"key":"10.1016\/S0022-3476(99)70088-0_bib38","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1161\/01.CIR.85.5.1651","article-title":"Diversity of structural mitral valve alterations in hypertrophic cardiomyopathy","volume":"85","author":"Klues","year":"1992","journal-title":"Circulation"},{"key":"10.1016\/S0022-3476(99)70088-0_bib39","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1136\/hrt.68.12.586","article-title":"Myocardial disarray in Noonan syndrome","volume":"68","author":"Burch","year":"1992","journal-title":"Br Heart J"},{"key":"10.1016\/S0022-3476(99)70088-0_bib40","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1017\/S104795110001088X","article-title":"Spectrum of valvar abnormalities in Noonan\u2019s syndrome. A pathologic study","volume":"4","author":"Narayanswami","year":"1994","journal-title":"Cardiol Young"},{"key":"10.1016\/S0022-3476(99)70088-0_bib41","first-page":"3","article-title":"Mechanisms in the pathogenesis of congenital heart defects","author":"Clark","year":"1986"},{"key":"10.1016\/S0022-3476(99)70088-0_bib42","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/aja.1001660105","article-title":"The contribution of the inferior endocardial cushion of the atrioventricular canal to cardiac septation and to the development of the atrioventricular valves: study in the chick embryo","volume":"166","author":"De La Cruz","year":"1983","journal-title":"Am J Anat"},{"key":"10.1016\/S0022-3476(99)70088-0_bib43","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1159\/000145849","article-title":"Contribution of the superior atrioventricular cushion to the left ventricular infundibulum. Experimental study on the chick embryo","volume":"118","author":"Garcia Pel\u00e0ez","year":"1984","journal-title":"Acta Anat"},{"key":"10.1016\/S0022-3476(99)70088-0_bib44","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/S0022-5223(98)70240-5","article-title":"Development of the papillary muscles of the mitral valve: morphogenetic background of parachute-like asymmetric mitral valves and other mitral valve anomalies","volume":"116","author":"Oosthoek","year":"1998","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1016\/S0022-3476(99)70088-0_bib45","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1161\/01.RES.82.6.645","article-title":"Formation of the atrioventricular septal structures in the normal mouse","volume":"82","author":"Webb","year":"1998","journal-title":"Circ Res"},{"key":"10.1016\/S0022-3476(99)70088-0_bib46","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1016\/S0002-9149(98)00012-5","article-title":"Size of ventricular structures influences surgical outcome in Down syndrome infants with atrioventricular septal defect","volume":"81","author":"Minich","year":"1998","journal-title":"Am J Cardiol"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347699700880?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347699700880?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T13:49:35Z","timestamp":1586526575000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347699700880"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,12]]},"references-count":46,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1999,12]]}},"alternative-id":["S0022347699700880"],"URL":"https:\/\/doi.org\/10.1016\/s0022-3476(99)70088-0","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[1999,12]]}}}