{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:35:34Z","timestamp":1787502934696,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,12,28]],"date-time":"2012-12-28T00:00:00Z","timestamp":1356652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,10]]},"abstract":"\n The aim of this study was to characterize cardiac features of patients with neurofibromatosis 1 (\n NF1<\/jats:styled-content>\n ) and large deletions of the\n \n NF1<\/jats:styled-content>\n <\/jats:italic>\n gene region. The study participants were 16 patients with large\n \n NF1<\/jats:styled-content>\n <\/jats:italic>\n deletions and 16 age\u2010 and sex\u2010matched\n NF1<\/jats:styled-content>\n patients without such deletions. All the patients were comprehensively characterized clinically and by echocardiography. Six of 16\n \n NF1<\/jats:styled-content>\n <\/jats:italic>\n deletion patients but none of 16 non\u2010deletion\n NF1<\/jats:styled-content>\n patients have major cardiac abnormalities (p\u2009=\u20090.041). Congenital heart defects (\n CHDs<\/jats:styled-content>\n ) include mitral insufficiency in two patients and ventricular septal defect, aortic stenosis, and aortic insufficiency in one patient each. Three deletion patients have hypertrophic cardiomyopathy. Two patients have intracardiac tumors.\n NF1<\/jats:styled-content>\n patients without large deletions have increased left ventricular (\n LV<\/jats:styled-content>\n ) diastolic posterior wall thickness (p\u2009<\u20090.001) and increased intraventricular diastolic septal thickness (p\u2009=\u20090.001) compared with a healthy reference population without\n NF1<\/jats:styled-content>\n , suggestive of eccentric LV hypertrophy.\n CHDs<\/jats:styled-content>\n and other cardiovascular anomalies are more frequent among patients with large\n \n NF1<\/jats:styled-content>\n <\/jats:italic>\n deletion and may cause serious clinical complications. Eccentric LV hypertrophy may occur in\n NF1<\/jats:styled-content>\n patients without whole gene deletions, but the clinical significance of this finding is uncertain. All patients with clinical suspicion for\n NF1<\/jats:styled-content>\n should be referred to a cardiologist for evaluation and surveillance.\n <\/jats:p>","DOI":"10.1111\/cge.12072","type":"journal-article","created":{"date-parts":[[2012,12,28]],"date-time":"2012-12-28T05:01:06Z","timestamp":1356670866000},"page":"344-349","source":"Crossref","is-referenced-by-count":39,"title":["Cardiac characterization of 16 patients with large\n \n NF1<\/scp>\n <\/i>\n gene deletions"],"prefix":"10.1111","volume":"84","author":[{"given":"R","family":"Nguyen","sequence":"first","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"},{"name":"Department of Pediatrics University of Maryland Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TS","family":"Mir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Kluwe","sequence":"additional","affiliation":[{"name":"Department of Maxillofacial Surgery University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Jett","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia, and Child & Family Research Institute Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Kentsch","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Hospital Itzehoe Itzehoe Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Kehrer\u2010Sawatzki","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Ulm Ulm Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JM","family":"Friedman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia, and Child & Family Research Institute Vancouver Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u2010F","family":"Mautner","sequence":"additional","affiliation":[{"name":"Department of Neurology University Medical Center Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,28]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Neurofibromatosis: phenotype, natural history, and pathogenesis","author":"Friedman JM","year":"1999"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10299"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21254"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<80::AID-AJMG16>3.0.CO;2-N"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.075937"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21271"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.8.9.1019"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1059"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8817.2005.00203.x"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200205000-00002"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<108::AID-AJMG4>3.0.CO;2-0"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2002.122121"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014761"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.35"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302709"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1988.00520290115023"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21340"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.3.e32"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.627224"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(01)01272-4"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10554-006-9082-y"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.75.1.175"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9149(98)01064-9"},{"key":"e_1_2_8_25_1","first-page":"411","article-title":"Rare case of v. 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