{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T21:21:08Z","timestamp":1768512068698,"version":"3.49.0"},"reference-count":35,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2007,10,1]],"date-time":"2007-10-01T00:00:00Z","timestamp":1191196800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 3 siblings with muscular ventricular septal defects, two requiring surgical closure. One of their offspring had a rare congenital aneurysm of the muscular ventricular septum, also requiring surgery. Another had a small muscular ventricular septal defect which closed spontaneously. Their father had echocardiographic evidence suggestive of a closed muscular defect. Paternal cousins have had ventricular septal defect, hypertrophic cardiomyopathy, and tetralogy of Fallot. There was no evidence of 22q11 deletion.<\/jats:p><jats:p>Although ventricular septal defects are the most common congenital heart defect, such familial clustering is uncommon. The distribution of cases in this family suggests autosomal dominant inheritance. With echocardiography, and more precise diagnosis of defects which close, a larger genetic component may be revealed in other families.<\/jats:p>","DOI":"10.1017\/s1047951107000996","type":"journal-article","created":{"date-parts":[[2007,7,18]],"date-time":"2007-07-18T10:02:12Z","timestamp":1184752932000},"page":"523-527","source":"Crossref","is-referenced-by-count":7,"title":["Familial muscular ventricular septal defects and aneurysms of the muscular interventricular septum"],"prefix":"10.1017","volume":"17","author":[{"given":"Mugur I.","family":"Nicolae","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim M.","family":"Summers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy J.","family":"Radford","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2007,10,1]]},"reference":[{"key":"S1047951107000996_ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900297"},{"key":"S1047951107000996_ref14","first-page":"I114","article-title":"Report from the second joint study the Natural History of congenital heart defects (NHS \u2013 2): Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect","volume":"87","author":"Driscoll","year":"1993","journal-title":"Circulation"},{"key":"S1047951107000996_ref24","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(88)90266-9"},{"key":"S1047951107000996_ref35","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.01.113"},{"key":"S1047951107000996_ref3","first-page":"91","article-title":"Genetic epidemiology of congenital heart diseases","volume":"5","author":"Nora","year":"1983","journal-title":"Prog Med Genet"},{"key":"S1047951107000996_ref20","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.65.2.104"},{"key":"S1047951107000996_ref23","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.98.16.1697"},{"key":"S1047951107000996_ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10020"},{"key":"S1047951107000996_ref28","first-page":"25","article-title":"D, Borkowski M, Rogowski W, Drozdz J, Krzeminska-Pakula M","volume":"18","author":"Kasprzak","year":"2002","journal-title":"A congenital complex including muscular interventricular septal aneurysm in an adult: case report and review of literature. Int J Cardiovasc Imaging"},{"key":"S1047951107000996_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)32629-3"},{"key":"S1047951107000996_ref32","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2004.10.056"},{"key":"S1047951107000996_ref2","volume-title":"Paediatric Cardiology","author":"Anderson","year":"2002"},{"key":"S1047951107000996_ref5","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(87)90956-8"},{"key":"S1047951107000996_ref21","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5273(92)90243-V"},{"key":"S1047951107000996_ref22","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/14.9.1294"},{"key":"S1047951107000996_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(95)00358-4"},{"key":"S1047951107000996_ref19","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5273(88)90064-2"},{"key":"S1047951107000996_ref7","first-page":"942","volume":"51","author":"Corone","year":"1983","journal-title":"Familial congenital heart disease: How are the various types related? Am J Cardiol"},{"key":"S1047951107000996_ref4","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.53.4.701"},{"key":"S1047951107000996_ref6","first-page":"197","article-title":"The recurrence risk in congenital heart disease","volume":"7","author":"Sanchez-Cascos","year":"1978","journal-title":"Eur J Cardiol"},{"key":"S1047951107000996_ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31309"},{"key":"S1047951107000996_ref10","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1542\/peds.76.5.741","article-title":"Etiology of ventricular septal defects: an epidemiologic approach","volume":"76","author":"Newman","year":"1985","journal-title":"Pediatrics"},{"key":"S1047951107000996_ref11","first-page":"394","article-title":"The Korean Twin Registry \u2013 methods, current stage, and interim results","volume":"5","author":"Sung","year":"2002","journal-title":"Twin Res"},{"key":"S1047951107000996_ref12","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370050505"},{"key":"S1047951107000996_ref27","doi-asserted-by":"publisher","DOI":"10.1007\/s002460010246"},{"key":"S1047951107000996_ref13","first-page":"556","article-title":"Etiologic heterogeneity in the familial aggregation of congenital cardiovascular malformations","volume":"45","author":"Maestri","year":"1989","journal-title":"Am J Hum Genet"},{"key":"S1047951107000996_ref17","first-page":"146","article-title":"High incidence of ventricular septal defects in a family","volume":"12","author":"Szabo","year":"1976","journal-title":"Isr J Med Sci"},{"key":"S1047951107000996_ref18","first-page":"107","article-title":"Epidemiological characterization of congenital heart disease in Sao Miguel Island, Azores, Portugal","volume":"9","author":"Cymbron","year":"2006","journal-title":"Community Genet"},{"key":"S1047951107000996_ref26","doi-asserted-by":"publisher","DOI":"10.1016\/S0894-7317(99)70197-5"},{"key":"S1047951107000996_ref31","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951100003577"},{"key":"S1047951107000996_ref33","doi-asserted-by":"publisher","DOI":"10.1097\/00001573-200403000-00007"},{"key":"S1047951107000996_ref34","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/00029330-200602020-00001","article-title":"Association of the GLI gene with ventricular septal defect after the susceptibility gene being narrowed to 3.56cM in 12q13","volume":"119","author":"Qiu","year":"2006","journal-title":"Chin Med J"},{"key":"S1047951107000996_ref9","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441716"},{"key":"S1047951107000996_ref29","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-001-0007-1"},{"key":"S1047951107000996_ref30","first-page":"82","article-title":"Congenital aneurysm of the muscular interventricular septum in a child","volume":"47","author":"Baspinar","year":"2005","journal-title":"Turk J Pediatr"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951107000996","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,13]],"date-time":"2023-05-13T12:03:54Z","timestamp":1683979434000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951107000996\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10]]},"references-count":35,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["S1047951107000996"],"URL":"https:\/\/doi.org\/10.1017\/s1047951107000996","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"value":"1047-9511","type":"print"},{"value":"1467-1107","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10]]}}}