{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T13:58:54Z","timestamp":1792504734706,"version":"4.5.0"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2022,1,4]]},"abstract":"<jats:sec xml:lang=\"en\">\n                    <jats:title>Background<\/jats:title>\n                    <jats:p xml:lang=\"en\">Pediatric dilated cardiomyopathy (DCM) is a well\u2010known clinical entity; however, phenotype\u2013genotype correlations are inadequately described. Our objective was to provide genotype associations with life\u2010threatening cardiac outcomes in pediatric DCM probands.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Methods and Results<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      We performed a retrospective review of children with DCM at a large pediatric referral center (2007\u20132016), excluding syndromic, chemotherapy\u2010induced, and congenital heart disease causes. Genetic variants were adjudicated by an expert panel and an independent clinical laboratory. In a cohort of 109 pediatric DCM cases with a mean age at diagnosis of 4.2\u00a0years (SD 5.9), life\u2010threatening cardiac outcomes occurred in 47% (42% heart transplant, 5% death). One or more pathogenic\/likely pathogenic variants were present in 40\/109 (37%), and 36\/44 (82%) of pathogenic\/likely pathogenic variants occurred in sarcomeric genes. The frequency of pathogenic\/likely pathogenic variants was not different in patients with familial cardiomyopathy (15\/33 with family history versus 25\/76 with no family history,\n                      <jats:italic>P<\/jats:italic>\n                      =0.21).\n                      <jats:italic>TTN<\/jats:italic>\n                      truncating variants occurred in a higher percentage of children diagnosed as teenagers (26% teenagers versus 6% younger children,\n                      <jats:italic>P<\/jats:italic>\n                      =0.01), but life\u2010threatening cardiac outcomes occurred in both infants and teenagers with these\n                      <jats:italic>TTN<\/jats:italic>\n                      variants. DCM with left ventricular noncompaction features occurred in 6\/6 patients with\n                      <jats:italic>MYH7<\/jats:italic>\n                      variants between amino acids 1 and 600.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec xml:lang=\"en\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p xml:lang=\"en\">\n                      Sarcomeric variants were common in pediatric DCM. We demonstrated genotype\u2010specific associations with age of diagnosis and cardiac outcomes. In particular,\n                      <jats:italic>MYH7<\/jats:italic>\n                      had domain\u2010specific association with DCM with left ventricular noncompaction features. Family history did not predict pathogenic\/likely pathogenic variants, reinforcing that genetic testing should be considered in all children with idiopathic DCM.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/jaha.121.022854","type":"journal-article","created":{"date-parts":[[2021,12,22]],"date-time":"2021-12-22T06:51:49Z","timestamp":1640155909000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":44,"title":["Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy"],"prefix":"10.1161","volume":"11","author":[{"given":"Rabia S.","family":"Khan","sequence":"first","affiliation":[{"name":"Division of Cardiology Department of Pediatrics Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elfriede","family":"Pahl","sequence":"additional","affiliation":[{"name":"Division of Cardiology Department of Pediatrics Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6044-0559","authenticated-orcid":false,"given":"Lisa","family":"Dellefave\u2010Castillo","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Bluhm Cardiovascular InstituteNorthwestern University Feinberg School of Medicine Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Rychlik","sequence":"additional","affiliation":[{"name":"Biostatistics Research Core Stanley Manne Children\u2019s Research InstituteAnn &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Ing","sequence":"additional","affiliation":[{"name":"Center for Genomics Department of Pathology and Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai Lee","family":"Yap","sequence":"additional","affiliation":[{"name":"Center for Genomics Department of Pathology and Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casey","family":"Brew","sequence":"additional","affiliation":[{"name":"Center for Genomics Department of Pathology and Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie R.","family":"Johnston","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Bluhm Cardiovascular InstituteNorthwestern University Feinberg School of Medicine Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1221-719X","authenticated-orcid":false,"given":"Elizabeth M.","family":"McNally","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Bluhm Cardiovascular InstituteNorthwestern University Feinberg School of Medicine Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9107-8342","authenticated-orcid":false,"given":"Gregory","family":"Webster","sequence":"additional","affiliation":[{"name":"Division of Cardiology Department of Pediatrics Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago IL"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)62023-7"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.healun.2016.08.018"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.027134"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2017.09.1089"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.116.309396"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCHEARTFAILURE.115.002637"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0b013e328337ba52"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2963"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.109.867242"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cjca.2014.09.030"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2018.09.010"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-016-1033-6"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.carpath.2017.05.004"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.11.017"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2000.103933"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI62862"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.120.003082"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-52911-1"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.107.746164"},{"issue":"4","key":"e_1_3_2_23_2","article-title":"Novel genetic triggers and genotype\u2010phenotype correlations in patients with left ventricular noncompaction","volume":"10","author":"Miszalski\u2010Jamka K","year":"2017","unstructured":"Miszalski\u2010Jamka K, Jefferies JL, Mazur W, Glowacki J, Hu J, Lazar M, Gibbs RA, Liczko J, Klys J, Venner E, et al. Novel genetic triggers and genotype\u2010phenotype correlations in patients with left ventricular noncompaction. 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