{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T07:42:55Z","timestamp":1789544575309,"version":"build-2803163510"},"reference-count":17,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"23","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2019,12,3]]},"abstract":"\n Background<\/jats:title>\n \n A genetic cause can be identified in 30% of noncompaction cardiomyopathy patients (\n NCCM<\/jats:styled-content>\n ) with clinical features ranging from asymptomatic cardiomyopathy to heart failure with major adverse cardiac events (\n MACE<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Methods and Results<\/jats:title>\n \n To investigate genotype\u2010phenotype correlations, the genotypes and clinical features of genetic\n NCCM<\/jats:styled-content>\n patients were collected from the literature. We compared age at diagnosis, cardiac features and risk for\n MACE<\/jats:styled-content>\n according to mode of inheritance and molecular effects for defects in the most common sarcomere genes and\n NCCM<\/jats:styled-content>\n subtypes. Geno\u2010 and phenotypes of 561\n NCCM<\/jats:styled-content>\n patients from 172 studies showed increased risk in children for congenital heart defects (\n P<\/jats:italic>\n <0.001) and\n MACE<\/jats:styled-content>\n (\n P<\/jats:italic>\n <0.001). In adult\n NCCM<\/jats:styled-content>\n patients the main causes were single missense mutations in sarcomere genes. Children more frequently had an X\u2010linked or mitochondrial inherited defect (\n P<\/jats:italic>\n =0.001) or chromosomal anomalies (\n P<\/jats:italic>\n <0.001).\n \n MYH<\/jats:styled-content>\n 7\n <\/jats:italic>\n was involved in 48% of the sarcomere gene mutations.\n \n MYH<\/jats:styled-content>\n 7\n <\/jats:italic>\n and\n \n ACTC<\/jats:styled-content>\n 1\n <\/jats:italic>\n mutations had lower risk for\n MACE<\/jats:styled-content>\n than\n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n and\n \n TTN<\/jats:styled-content>\n <\/jats:italic>\n (\n P<\/jats:italic>\n =0.001). The\n NCCM<\/jats:styled-content>\n \/dilated cardiomyopathy cardiac phenotype was the most frequent subtype (56%;\n P<\/jats:italic>\n =0.022) and was associated with an increased risk for\n MACE<\/jats:styled-content>\n and high risk for left ventricular systolic dysfunction (<0.001). In multivariate binary logistic regression analysis\n \n MYBPC<\/jats:styled-content>\n 3\n <\/jats:italic>\n ,\n \n TTN<\/jats:styled-content>\n ,\n <\/jats:italic>\n arrhythmia \u2010, non\u2010sarcomere non\u2010arrhythmia cardiomyopathy\u2014and X\u2010linked genes were genetic predictors for\n MACE<\/jats:styled-content>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Sarcomere gene mutations were the most common cause in adult patients with lower risk of\n MACE<\/jats:styled-content>\n . Children had multi\u2010systemic disorders with severe outcome, suggesting that the diagnostic and clinical approaches should be adjusted to age at presentation. The observed genotype\u2010phenotype correlations endorsed that\n DNA<\/jats:styled-content>\n diagnostics for\n NCCM<\/jats:styled-content>\n is important for clinical management and counseling of patients.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1161\/jaha.119.012993","type":"journal-article","created":{"date-parts":[[2019,11,27]],"date-time":"2019-11-27T10:00:20Z","timestamp":1574848820000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":85,"title":["Systematic Review of Genotype\u2010Phenotype Correlations in Noncompaction Cardiomyopathy"],"prefix":"10.1161","volume":"8","author":[{"given":"Jaap I.","family":"van Waning","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Moesker","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphne","family":"Heijsman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Boersma","sequence":"additional","affiliation":[{"name":"Department of Cardiology Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Majoor\u2010Krakauer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/heart.86.6.666"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2005.03.045"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2015.07.003"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.12.019"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.12.031"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2017.01.017"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.110.959270"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(99)00170-9"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1086\/514879"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0718"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2018.12.085"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.euje.2005.12.014"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2008.02.006"},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2015.06.381"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehx545"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61282-4"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.001896"}],"container-title":["Journal of the American Heart Association"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/JAHA.119.012993","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T10:57:07Z","timestamp":1715597827000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/JAHA.119.012993"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,3]]},"references-count":17,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2019,12,3]]}},"alternative-id":["10.1161\/JAHA.119.012993"],"URL":"https:\/\/doi.org\/10.1161\/jaha.119.012993","relation":{},"ISSN":["2047-9980"],"issn-type":[{"value":"2047-9980","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,3]]},"assertion":[{"value":"2019-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e012993"}}