{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T14:02:51Z","timestamp":1782396171323,"version":"3.54.5"},"reference-count":18,"publisher":"Texas Heart Institute Journal","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:p>The prevalence of congenital heart disease in infants with Down syndrome is 40%, compared with 0.3% in children who have normal chromosomes. Atrioventricular and ventricular septal defects are often associated with chromosomal aberrations, such as in trisomy 21, whereas hypertrophic cardiomyopathy is chiefly thought to be secondary to specific gene mutations. We found only one reported case of congenital hypertrophic cardiomyopathy and atrioventricular septal defect in an infant with Down syndrome. Here, we report atrioventricular septal defect, hypertrophic cardiomyopathy, and pulmonary vein stenosis in a neonate with Down syndrome\u2014an apparently unique combination. In addition, we discuss the relevant medical literature.<\/jats:p>","DOI":"10.14503\/thij-14-4256","type":"journal-article","created":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T20:24:07Z","timestamp":1443731047000},"page":"458-461","source":"Crossref","is-referenced-by-count":16,"title":["Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis"],"prefix":"10.14503","volume":"42","author":[{"given":"Guruprasad","family":"Mahadevaiah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj","family":"Gupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Ashwath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5628","reference":[{"issue":"1","key":"i0730-2347-42-5-458-b1","series-title":"Am J Epidemiol","first-page":"31","article-title":"Congenital heart disease: prevalence at live-birth. The Baltimore-Washington Infant Study","volume":"121","year":"1985","unstructured":"Ferencz\n              C, \n            \n              Rubin\n              JD, \n            \n              McCarter\n              RJ, \n            \n              Brenner\n              JI, \n            \n              Neill\n              CA, \n            \n              Perry\n              LW, \n          \n          et al. Congenital heart disease: prevalence at live-birth. The Baltimore-Washington Infant Study. 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St Barth Hosp Rep1894;30:53\u201361. Available from: http:\/\/hdl.handle.net\/2027\/nnc2.ark:\/13960\/t9q24mm0h?urlappend=%3Bseq=89 [cited 2015 Aug 7]."},{"issue":"6","key":"i0730-2347-42-5-458-b4","series-title":"Pediatr Clin North Am","first-page":"1331","article-title":"Cardiovascular disease in Down syndrome","volume":"31","year":"1984","unstructured":"Spicer\n              RL.\n            \n          \n          Cardiovascular disease in Down syndrome. 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Cardiovasc Pathol1996;5(3):145\u201351."},{"issue":"2","key":"i0730-2347-42-5-458-b10","series-title":"Am J Cardiol","first-page":"340","article-title":"Signs of membranous subaortic stenosis appearing after correction of persistent common atrioventricular canal","volume":"48","year":"1981","unstructured":"Ben-Shacher\n              G, \n            \n              Moller\n              JH, \n            \n              Castaneda-Zuniga\n              W, \n            \n              Edwards\n              JE.\n            \n          \n          Signs of membranous subaortic stenosis appearing after correction of persistent common atrioventricular canal. Am J Cardiol1981;48(2):340\u20134."},{"issue":"3","key":"i0730-2347-42-5-458-b11","series-title":"Congenit Heart Dis","first-page":"E90","article-title":"Pulmonary vein stenosis with Down syndrome: a rare and frequently fatal cause of pulmonary hypertension in infants and children","volume":"9","year":"2014","unstructured":"Gowda\n              S, \n            \n              Bhat\n              D, \n            \n              Feng\n              Z, \n            \n              Chang\n              CH, \n            \n              Ross\n              RD.\n            \n          \n          Pulmonary vein stenosis with Down syndrome: a rare and frequently fatal cause of pulmonary hypertension in infants and children. 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Circulation1976;53(1):9\u201319."},{"issue":"6","key":"i0730-2347-42-5-458-b14","series-title":"Circulation","first-page":"773","article-title":"Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry","volume":"115","year":"2007","unstructured":"Colan\n              SD, \n            \n              Lipshultz\n              SE, \n            \n              Lowe\n              AM, \n            \n              Sleeper\n              LA, \n            \n              Messere\n              J, \n            \n              Cox\n              GF, \n          \n          et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. 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A form of familial cardiomyopathy","volume":"31","year":"1961","unstructured":"Pare\n              JA, \n            \n              Fraser\n              RG, \n            \n              Pirozynski\n              WJ, \n            \n              Shanks\n              JA, \n            \n              Stubington\n              D.\n            \n          \n          Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. Am J Med1961;31:37\u201362."},{"issue":"Suppl 2","key":"i0730-2347-42-5-458-b17","series-title":"Cardiol Young","first-page":"66","article-title":"State-of-the-art management of hypertrophic cardiomyopathy in children","volume":"19","year":"2009","unstructured":"Berger\n              S, \n            \n              Dhala\n              A, \n            \n              Dearani\n              JA.\n            \n          \n          State-of-the-art management of hypertrophic cardiomyopathy in children. 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Br Heart J1978;40(9):1034\u20139."}],"container-title":["Texas Heart Institute Journal"],"original-title":[],"link":[{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/42\/5\/article-p458.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/meridian.allenpress.com\/thij\/article-pdf\/42\/5\/458\/1970248\/thij-14-4256.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/42\/5\/article-p458.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thij.kglmeridian.com\/downloadpdf\/journals\/thij\/42\/5\/article-p458.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T15:30:49Z","timestamp":1730993449000},"score":1,"resource":{"primary":{"URL":"https:\/\/thij.kglmeridian.com\/view\/journals\/thij\/42\/5\/article-p458.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":18,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.14503\/thij-14-4256","relation":{},"ISSN":["0730-2347","1526-6702"],"issn-type":[{"value":"0730-2347","type":"print"},{"value":"1526-6702","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10]]}}}