{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:22:35Z","timestamp":1789154555124,"version":"build-2803163510"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T00:00:00Z","timestamp":1343174400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Left ventricular hypertrabeculation\/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Case presentation<\/jats:title>\n            <jats:p>A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5\u2009years old girl. Microarray-based genomic hybridization (array-CGH) detected six previously not described copy number variants (CNVs) inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-13-60","type":"journal-article","created":{"date-parts":[[2012,7,25]],"date-time":"2012-07-25T10:16:00Z","timestamp":1343211360000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Left ventricular hypertrabeculation\/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants"],"prefix":"10.1186","volume":"13","author":[{"given":"Bert","family":"Nagel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Gruber-Sedlmayr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Uhrig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"St\u00f6llberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Klopocki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Finsterer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,7,25]]},"reference":[{"key":"975_CR1","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1542\/peds.2007-0929","volume":"121","author":"A Battaglia","year":"2008","unstructured":"Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC: Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008, 121: 404-410. 10.1542\/peds.2007-0929.","journal-title":"Pediatrics"},{"key":"975_CR2","doi-asserted-by":"publisher","first-page":"e1362","DOI":"10.1371\/journal.pone.0001362","volume":"2","author":"BS Budde","year":"2007","unstructured":"Budde BS, Binner P, Waldm\u00fcller S, H\u00f6hne W, Blankenfeldt W, Hassfeld S, Br\u00f6msen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, M\u00fcller M, Goody RS, Vosberg HP, N\u00fcrnberg P, Scheffold T: Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS One. 2007, 2: e1362-10.1371\/journal.pone.0001362.","journal-title":"PLoS One"},{"key":"975_CR3","doi-asserted-by":"publisher","first-page":"904","DOI":"10.2459\/JCM.0b013e32801462b0","volume":"8","author":"G Fazio","year":"2007","unstructured":"Fazio G, Pipitone S, Iacona MA, Marchi S, Mongiovi M, Zito R, Sutera L, Novo S: The noncompaction of the left ventricular myocardium: our paediatric experience. J Cardiovasc Med. 2007, 8: 904-908. 10.2459\/JCM.0b013e32801462b0.","journal-title":"J Cardiovasc Med"},{"key":"975_CR4","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.ejmg.2005.06.004","volume":"49","author":"N Kanemoto","year":"2006","unstructured":"Kanemoto N, Horigome H, Nakayama J, Ichida F, Xing Y, Buonadonna AL, Kanemoto K, Gentile M: Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet. 2006, 49: 247-253. 10.1016\/j.ejmg.2005.06.004.","journal-title":"Eur J Med Genet"},{"key":"975_CR5","doi-asserted-by":"publisher","first-page":"1953","DOI":"10.1093\/eurheartj\/ehm239","volume":"28","author":"L Monserrat","year":"2007","unstructured":"Monserrat L, Hermida-Prieto M, Fernandez X, Rodr\u00edguez I, Dumont C, Caz\u00f3n L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A: Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J. 2007, 28: 1953-1961. 10.1093\/eurheartj\/ehm239.","journal-title":"Eur Heart J"},{"key":"975_CR6","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/j.ymgme.2009.07.017","volume":"98","author":"LE Profitlich","year":"2009","unstructured":"Profitlich LE, Kirmse B, Wasserstein MP, Diaz GA, Srivastava S: High prevalence of structural heart disease in children with cb1C-type methylmalonic aciduria and homocystinuria. Mol Genet Metab. 2009, 98: 344-348. 10.1016\/j.ymgme.2009.07.017.","journal-title":"Mol Genet Metab"},{"key":"975_CR7","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1007\/s00246-008-9382-1","volume":"30","author":"SF Tsai","year":"2009","unstructured":"Tsai SF, Ebenroth ES, Hurwitz RA, Cordes TM, Schamberger MS, Batra AS: Is left ventricular noncompaction in children truly an isolated lesion?. Pediatr Cardiol. 2009, 30: 597-602. 10.1007\/s00246-008-9382-1.","journal-title":"Pediatr Cardiol"},{"key":"975_CR8","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1007\/s00439-007-0436-x","volume":"122","author":"MW Wessels","year":"2008","unstructured":"Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ: A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet. 2008, 122: 595-603. 10.1007\/s00439-007-0436-x.","journal-title":"Hum Genet"},{"key":"975_CR9","doi-asserted-by":"publisher","first-page":"e49","DOI":"10.1016\/j.ijcard.2010.12.002","volume":"152","author":"G De Pasquale Meyer","year":"2011","unstructured":"De Pasquale Meyer G, Kretschmar O, Valsangiacomo Buechel ER, Kellenberger C, Bauersfeld U, Attenhofer Jost CH: Rare combination of congenital aplasia of the right pulmonary veins, left ventricular noncompaction, partial membranous obstruction of left-sided pulmonary veins and secundum atrial septal defect. Int J Cardiol. 2011, 152: e49-51. 10.1016\/j.ijcard.2010.12.002.","journal-title":"Int J Cardiol"},{"key":"975_CR10","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1016\/j.cca.2010.09.035","volume":"412","author":"P Ouyang","year":"2011","unstructured":"Ouyang P, Saarel E, Bai Y, Luo C, Lv Q, Xu Y, Wang F, Fan C, Younoszai A, Chen Q, Tu X, Wang QK: A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death. Clin Chim Acta. 2011, 412: 170-175. 10.1016\/j.cca.2010.09.035.","journal-title":"Clin Chim Acta"},{"key":"975_CR11","doi-asserted-by":"publisher","first-page":"1747","DOI":"10.2169\/internalmedicine.50.5290","volume":"50","author":"H Sakan","year":"2011","unstructured":"Sakan H, Okayama S, Uemura S, Somekawa S, Ishigami K, Takeda Y, Kawata H, Horii M, Fujimoto S, Saito Y: Atrial right-to-left shunt without pulmonary hypertension in a patient with biventricular non-compaction cardiomyopathy accompanied by ventricular and atrial septal defects. Intern Med. 2011, 50: 1747-1751. 10.2169\/internalmedicine.50.5290.","journal-title":"Intern Med"},{"key":"975_CR12","doi-asserted-by":"publisher","first-page":"2215","DOI":"10.1002\/ajmg.a.34129","volume":"155","author":"JJ Blinder","year":"2011","unstructured":"Blinder JJ, Martinez HR, Craigen WJ, Belmont J, Pignatelli RH, Jefferies JL: Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A. 2011, 155: 2215-2220. 10.1002\/ajmg.a.34129.","journal-title":"Am J Med Genet A"},{"key":"975_CR13","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1055\/s-2008-1043782","volume":"211","author":"A Hussein","year":"1999","unstructured":"Hussein A, Schmaltz AA, Trowitzsch E: Isolierte Fehlentwicklung (\u201cNoncompaction\u201c) des Myokards bei drei Kindern. Klin P\u00e4diatr. 1999, 211: 175-178.","journal-title":"Klin P\u00e4diatr"},{"key":"975_CR14","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1007\/s10554-005-9073-4","volume":"22","author":"J Finsterer","year":"2006","unstructured":"Finsterer J, St\u00f6llberger C, Gelpi E: Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathy. Int J Cardiovasc Imaging. 2006, 22: 393-398. 10.1007\/s10554-005-9073-4.","journal-title":"Int J Cardiovasc Imaging"},{"key":"975_CR15","doi-asserted-by":"publisher","first-page":"2891","DOI":"10.1002\/ajmg.a.32556","volume":"146A","author":"S Saito","year":"2008","unstructured":"Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y: Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5\u201311.1\u2009Mb terminal deletion of 1p36. Am J Med Genet A. 2008, 146A: 2891-2897. 10.1002\/ajmg.a.32556.","journal-title":"Am J Med Genet A"},{"key":"975_CR16","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1016\/j.ejmg.2007.01.002","volume":"50","author":"B Thienpont","year":"2007","unstructured":"Thienpont B, Mertens L, Buyse G, Vermeesch JR, Devriendt K: Left-ventricular non-compaction in a patient with monosomy 1p36. Eur J Med Genet. 2007, 50: 233-236. 10.1016\/j.ejmg.2007.01.002.","journal-title":"Eur J Med Genet"},{"key":"975_CR17","doi-asserted-by":"publisher","first-page":"1115","DOI":"10.1002\/ajmg.a.33838","volume":"155A","author":"HR Martinez","year":"2011","unstructured":"Martinez HR, Belmont JW, Craigen WJ, Taylor MD, Jefferies JL: Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011, 155A: 1115-1118.","journal-title":"Am J Med Genet A"},{"key":"975_CR18","doi-asserted-by":"publisher","first-page":"99","DOI":"10.2143\/AC.64.1.2034370","volume":"64","author":"H Altenberger","year":"2009","unstructured":"Altenberger H, St\u00f6llberger C, Finsterer J: Isolated left ventricular hypertrabeculation \/noncompaction in a Turner mosaic with male phenotype. Acta Cardiol. 2009, 64: 99-103. 10.2143\/AC.64.1.2034370.","journal-title":"Acta Cardiol"},{"key":"975_CR19","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1136\/jmg.2007.055699","volume":"45","author":"E Klopocki","year":"2008","unstructured":"Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Med Genet. 2008, 45: 370-375. 10.1136\/jmg.2007.055699.","journal-title":"Med Genet"},{"key":"975_CR20","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1146\/annurev-genom-082410-101404","volume":"12","author":"E Klopocki","year":"2011","unstructured":"Klopocki E, Mundlos S: Copy-number variations, noncoding sequences, and human phenotypes. Annu Rev Genomics Hum Genet. 2011, 12: 53-72. 10.1146\/annurev-genom-082410-101404.","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"975_CR21","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1007\/s00246-008-9359-0","volume":"30","author":"J Finsterer","year":"2009","unstructured":"Finsterer J: Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation\/ noncompaction. Pediatr Cardiol. 2009, 30: 659-681. 10.1007\/s00246-008-9359-0.","journal-title":"Pediatr Cardiol"},{"key":"975_CR22","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1002\/ajmg.b.30369","volume":"144B","author":"S Lorenz","year":"2007","unstructured":"Lorenz S, Heils A, Kasper JM, Sander T: Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. Am J Med Genet B Neuropsychiatr Genet. 2007, 144B: 10-13. 10.1002\/ajmg.b.30369.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"975_CR23","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1002\/dvdy.21502","volume":"237","author":"P Varadkar","year":"2008","unstructured":"Varadkar P, Kraman M, Despres D, Ma G, Lozier J, McCright B: Notch2 is required for the proliferation of cardiac neural crest-derived smooth muscle cells. Dev Dyn. 2008, 237: 1144-1152. 10.1002\/dvdy.21502.","journal-title":"Dev Dyn"},{"key":"975_CR24","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1136\/jmedgenet-2011-100544","volume":"49","author":"BM Kamath","year":"2012","unstructured":"Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB: NOTCH2 mutations in Alagille syndrome. J Med Genet. 2012, 49: 138-144. 10.1136\/jmedgenet-2011-100544.","journal-title":"J Med Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-13-60.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-13-60\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-13-60","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-13-60.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T20:13:29Z","timestamp":1630527209000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-13-60"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,25]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["975"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-13-60","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,25]]},"assertion":[{"value":"6 March 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"60"}}