{"id":"https://openalex.org/W2940284335","doi":null,"title":"Abstract 19676: A Positive Genotype Predicts Clinical Outcomes in a Large Cohort With Dilated Cardiomyopathy","display_name":"Abstract 19676: A Positive Genotype Predicts Clinical Outcomes in a Large Cohort With Dilated Cardiomyopathy","publication_year":2017,"publication_date":"2017-11-14","ids":{"openalex":"https://openalex.org/W2940284335","mag":"2940284335"},"language":"en","primary_location":{"id":"mag:2940284335","doi":null,"is_oa":false,"landing_page_url":"https://www.ahajournals.org/doi/abs/10.1161/circ.136.suppl_1.19676","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Circulation","raw_type":null},"volume":null,"type":"conference-abstract","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5014341640","display_name":"Marta Gigli","orcid":"https://orcid.org/0000-0002-3856-937X","observed_orcids":["https://orcid.org/0000-0002-3856-937X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marta Gigli","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001852840","display_name":"Sharon Louise Graw","orcid":"https://orcid.org/0000-0003-4577-1493","observed_orcids":["https://orcid.org/0000-0003-4577-1493"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sharon Graw","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-4577-1493","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024753725","display_name":"Gianfranco Sinagra","orcid":"https://orcid.org/0000-0003-2700-8478","observed_orcids":["https://orcid.org/0000-0003-2700-8478"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gianfranco Sinagra","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2700-8478","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086097843","display_name":"Teisha J. Rowland","orcid":"https://orcid.org/0000-0001-5038-6763","observed_orcids":["https://orcid.org/0000-0001-5038-6763"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Teisha Rowland","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060589639","display_name":"Marco Merlo","orcid":"https://orcid.org/0000-0002-1022-3131","observed_orcids":["https://orcid.org/0000-0002-1022-3131"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marco Merlo","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-1022-3131","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087221814","display_name":"Dobromir B. Slavov","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Dobromir Slavov","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062904345","display_name":"Davide Stolfo","orcid":"https://orcid.org/0000-0002-4538-6811","observed_orcids":["https://orcid.org/0000-0002-4538-6811"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Davide Stolfo","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-4538-6811","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075413798","display_name":"Mary Sweet","orcid":"https://orcid.org/0000-0001-9496-3737","observed_orcids":["https://orcid.org/0000-0001-9496-3737"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mary Sweet","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061578736","display_name":"Matteo Dal Ferro","orcid":"https://orcid.org/0000-0002-2310-0448","observed_orcids":["https://orcid.org/0000-0002-2310-0448"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Matteo Dal Ferro","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-2310-0448","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108530321","display_name":"Francesca Brun","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Francesca Brun","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045357288","display_name":"Alessandro Altinier","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alessandro Altinier","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000539923","display_name":"Federica Ramani","orcid":"https://orcid.org/0000-0001-7394-1651","observed_orcids":["https://orcid.org/0000-0001-7394-1651"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Federica Ramani","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-7394-1651","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014966655","display_name":"Giulia Barbati","orcid":"https://orcid.org/0000-0001-8942-5686","observed_orcids":["https://orcid.org/0000-0001-8942-5686"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Giulia Barbati","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-8942-5686","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066041440","display_name":"Matthew R.G. Taylor","orcid":"https://orcid.org/0000-0001-9043-0810","observed_orcids":["https://orcid.org/0000-0001-9043-0810"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Matthew R.G. Taylor","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9043-0810","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5067654253","display_name":"Luisa Mestroni","orcid":"https://orcid.org/0000-0003-1116-2286","observed_orcids":["https://orcid.org/0000-0003-1116-2286"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luisa Mestroni","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1116-2286","affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":1.0},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.953000009059906},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.6380000114440918},{"id":"https://openalex.org/keywords/pathogenic-variants","display_name":"pathogenic variants","score":0.9169999957084656},{"id":"https://openalex.org/keywords/titin","display_name":"titin","score":0.5249999761581421},{"id":"https://openalex.org/keywords/lamin-a-c","display_name":"lamin A/C","score":0.9599999785423279},{"id":"https://openalex.org/keywords/cytoskeletal-genes","display_name":"cytoskeletal genes","score":0.4970000088214874},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.421999990940094},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.921999990940094},{"id":"https://openalex.org/keywords/ventricular-arrhythmias","display_name":"ventricular arrhythmias","score":0.8809999823570251},{"id":"https://openalex.org/keywords/heart-transplantation","display_name":"heart transplantation","score":0.8600000143051147},{"id":"https://openalex.org/keywords/ventricular-assist-devices","display_name":"ventricular assist devices","score":0.921999990940094},{"id":"https://openalex.org/keywords/mortality","display_name":"mortality","score":0.7599999904632568},{"id":"https://openalex.org/keywords/genetic-clusters","display_name":"genetic groups","score":0.35499998927116394}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9231040477752686},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.814807653427124},{"id":"https://openalex.org/C2780654407","wikidata":"https://www.wikidata.org/wiki/Q4253573","display_name":"LMNA","level":4,"score":0.7915037870407104},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6650749444961548},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.6493252515792847},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.5957766771316528},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.566194474697113},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5622640252113342},{"id":"https://openalex.org/C2778849806","wikidata":"https://www.wikidata.org/wiki/Q643396","display_name":"Heart transplantation","level":3,"score":0.5543413758277893},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.5337038636207581},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.5066350102424622},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.48694908618927},{"id":"https://openalex.org/C2993353509","wikidata":"https://www.wikidata.org/wiki/Q411867","display_name":"Sudden death","level":2,"score":0.47497814893722534},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.17062360048294067},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10983201861381531},{"id":"https://openalex.org/C179093185","wikidata":"https://www.wikidata.org/wiki/Q424506","display_name":"Lamin","level":3,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0},{"id":"https://openalex.org/C2780723820","wikidata":"https://www.wikidata.org/wiki/Q1934178","display_name":"Nucleus","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2940284335","doi":null,"is_oa":false,"landing_page_url":"https://www.ahajournals.org/doi/abs/10.1161/circ.136.suppl_1.19676","pdf_url":null,"source":{"id":"https://openalex.org/S116251202","display_name":"Circulation","issn_l":"0009-7322","issn":["0009-7322","1524-4539"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Circulation","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4414162880","https://openalex.org/W3215029657","https://openalex.org/W2981773879","https://openalex.org/W2512622411","https://openalex.org/W7111077524","https://openalex.org/W7018403088","https://openalex.org/W3163296327","https://openalex.org/W3118832957","https://openalex.org/W7214708300","https://openalex.org/W7138893318"],"abstract_inverted_index":{"Introduction:":[0],"Expansion":[1],"of":[2,28,36,72,103],"genetic":[3,26,53,115],"testing":[4,54],"in":[5,13,110],"Dilated":[6],"Cardiomyopathy":[7],"(DCM)":[8],"has":[9],"increased":[10],"mutation":[11],"detection":[12],"patients.":[14],"Nevertheless,":[15],"genotype-phenotype":[16],"correlations":[17],"are":[18],"still":[19],"poorly":[20],"understood.":[21],"Hypothesis:":[22],"To":[23],"explore":[24],"the":[25,34],"landscape":[27],"a":[29],"large":[30],"DCM":[31],"cohort,":[32],"assessing":[33],"effect":[35],"carrier":[37],"status":[38],"and":[39,44,58,93],"association":[40],"between":[41],"specific":[42],"genotypes":[43],"outcomes.":[45],"Methods:":[46],"Four":[47],"hundred":[48],"eighty-seven":[49],"patients":[50,112],"with":[51,63],"available":[52],"analysis":[55],"were":[56,85,108],"analyzed":[57],"grouped":[59],"into":[60],"\u201cgene":[61],"clusters\u201d":[62],"similar":[64],"functions.":[65],"Primary":[66],"prognostic":[67],"measures":[68],"included":[69],"all":[70],"causes":[71],"mortality,":[73],"heart":[74,88],"transplantation":[75],"or":[76],"ventricular":[77,97],"assist":[78],"device":[79],"implantation":[80],"(D/HTx/VAD).":[81],"Two":[82],"secondary":[83],"end-points":[84],"also":[86],"considered:":[87],"failure":[89],"(HF)-related":[90],"death/HTx/VAD":[91],"(DHF/HTx/VAD)":[92],"sudden":[94],"death":[95],"(SCD)/major":[96],"arrhythmias":[98],"(MVA).":[99],"Results:":[100],"A":[101],"total":[102],"186":[104],"pathogenic/likely":[105],"pathogenic":[106],"variants":[107],"found":[109],"180":[111],"(37%).":[113],"The":[114],"clusters":[116],"identified":[117],"were:":[118],"55":[119],"(11%)":[120],"TTNtv;":[121],"19":[122],"(4%)":[123],"LMNA;":[124],"24":[125],"(5%)":[126],"Structural":[127],"Cytoskeleton-Z":[128],"Disk":[129],"g...":[130]},"counts_by_year":[],"updated_date":"2026-10-14T16:39:01.820549","created_date":"2019-04-25T00:00:00"}
