{"id":"https://openalex.org/W2158457593","doi":"https://doi.org/10.1002/ajmg.a.36182","title":"Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation","display_name":"Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation","publication_year":2013,"publication_date":"2013-08-16","ids":{"openalex":"https://openalex.org/W2158457593","doi":"https://doi.org/10.1002/ajmg.a.36182","mag":"2158457593","pmid":"https://pubmed.ncbi.nlm.nih.gov/23956225"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.36182","doi":"https://doi.org/10.1002/ajmg.a.36182","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36182","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5024964883","display_name":"Audra Lea Bettinelli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799767083","display_name":"Ochsner Medical Center","ror":"https://ror.org/0290qyp66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336053918","https://openalex.org/I2799767083"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Audra L. Bettinelli","raw_affiliation_strings":["Medical Genetics Department Ochsner Clinic Foundation New Orleans Louisiana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department Ochsner Clinic Foundation New Orleans Louisiana","institution_ids":["https://openalex.org/I2799767083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040445530","display_name":"Theodorus J. Mulder","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799767083","display_name":"Ochsner Medical Center","ror":"https://ror.org/0290qyp66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336053918","https://openalex.org/I2799767083"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Theodorus J. Mulder","raw_affiliation_strings":["Pediatric Cardiology Department Ochsner Clinic Foundation New Orleans Louisiana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Cardiology Department Ochsner Clinic Foundation New Orleans Louisiana","institution_ids":["https://openalex.org/I2799767083"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082601374","display_name":"Birgit Funke","orcid":"https://orcid.org/0000-0001-6643-3640","observed_orcids":["https://orcid.org/0000-0001-6643-3640"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Birgit H. Funke","raw_affiliation_strings":["Laboratory for Molecular Medicine Cambridge Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine Cambridge Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014588541","display_name":"Katherine A Lafferty","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Katherine A. Lafferty","raw_affiliation_strings":["Laboratory for Molecular Medicine Cambridge Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Molecular Medicine Cambridge Massachusetts","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034685164","display_name":"Sherri Anne Longo","orcid":"https://orcid.org/0000-0003-4781-7037","observed_orcids":["https://orcid.org/0000-0003-4781-7037"]},"institutions":[{"id":"https://openalex.org/I2799767083","display_name":"Ochsner Medical Center","ror":"https://ror.org/0290qyp66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336053918","https://openalex.org/I2799767083"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sherri A. Longo","raw_affiliation_strings":["Maternal Fetal Medicine Department Ochsner Clinic Foundation New Orleans Louisiana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Maternal Fetal Medicine Department Ochsner Clinic Foundation New Orleans Louisiana","institution_ids":["https://openalex.org/I2799767083"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103402520","display_name":"Dmitriy M. Niyazov","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799767083","display_name":"Ochsner Medical Center","ror":"https://ror.org/0290qyp66","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336053918","https://openalex.org/I2799767083"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dmitriy M. Niyazov","raw_affiliation_strings":["Medical Genetics Department Ochsner Clinic Foundation New Orleans Louisiana"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Medical Genetics Department Ochsner Clinic Foundation New Orleans Louisiana","institution_ids":["https://openalex.org/I2799767083"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5024964883"],"corresponding_institution_ids":["https://openalex.org/I2799767083"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":3.1731,"has_fulltext":false,"cited_by_count":39,"citation_normalized_percentile":{"value":0.92820784,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"161","issue":"12","first_page":"3187","last_page":"3190"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.9765999913215637,"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":0.9765999913215637,"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/T11677","display_name":"Congenital heart defects research","score":0.011099999770522118,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.002099999925121665,"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/ebstein-anomaly","display_name":"Ebstein's anomaly","score":0.8939999938011169},{"id":"https://openalex.org/keywords/myh7-mutation","display_name":"MYH7 mutation","score":0.949999988079071},{"id":"https://openalex.org/keywords/left-ventricular-hypertrabeculation","display_name":"left ventricular hypertrabeculation","score":0.9369999766349792},{"id":"https://openalex.org/keywords/ventricular-septal-defect","display_name":"ventricular septal defect","score":1.0},{"id":"https://openalex.org/keywords/beta-myosin-heavy-chain","display_name":"beta-myosin heavy chain","score":0.8980000019073486},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.9670000076293945},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.9739999771118164},{"id":"https://openalex.org/keywords/genetic-etiology","display_name":"genetic etiology","score":0.5019999742507935}],"concepts":[{"id":"https://openalex.org/C74581901","wikidata":"https://www.wikidata.org/wiki/Q14876107","display_name":"MYH7","level":4,"score":0.9420742988586426},{"id":"https://openalex.org/C2778658428","wikidata":"https://www.wikidata.org/wiki/Q277452","display_name":"Ebstein's anomaly","level":3,"score":0.6657968759536743},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.5637267827987671},{"id":"https://openalex.org/C2994486495","wikidata":"https://www.wikidata.org/wiki/Q939364","display_name":"Heart defect","level":3,"score":0.5262804627418518},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5232526063919067},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5001175403594971},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4775198996067047},{"id":"https://openalex.org/C2910183347","wikidata":"https://www.wikidata.org/wiki/Q277452","display_name":"EBSTEIN ANOMALY","level":3,"score":0.46000486612319946},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4480186998844147},{"id":"https://openalex.org/C2779946567","wikidata":"https://www.wikidata.org/wiki/Q1344255","display_name":"Tricuspid valve","level":2,"score":0.38451147079467773},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.30444926023483276},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26448801159858704},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1667778491973877},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.14215651154518127},{"id":"https://openalex.org/C53345823","wikidata":"https://www.wikidata.org/wiki/Q5531554","display_name":"Gene isoform","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004437","descriptor_name":"Ebstein Anomaly","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D004437","descriptor_name":"Ebstein Anomaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004437","descriptor_name":"Ebstein Anomaly","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D004452","descriptor_name":"Echocardiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006345","descriptor_name":"Heart Septal Defects, Ventricular","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D006345","descriptor_name":"Heart Septal Defects, Ventricular","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006345","descriptor_name":"Heart Septal Defects, Ventricular","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018487","descriptor_name":"Ventricular Dysfunction, Left","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D018487","descriptor_name":"Ventricular Dysfunction, Left","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018487","descriptor_name":"Ventricular Dysfunction, Left","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D018995","descriptor_name":"Myosin Heavy Chains","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D024722","descriptor_name":"Cardiac Myosins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.36182","doi":"https://doi.org/10.1002/ajmg.a.36182","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36182","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:23956225","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23956225","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9922999739646912}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1771149003","https://openalex.org/W1970574699","https://openalex.org/W1996621013","https://openalex.org/W2017981241","https://openalex.org/W2062412841","https://openalex.org/W2067202607","https://openalex.org/W2067997771","https://openalex.org/W2069912614","https://openalex.org/W2076555385","https://openalex.org/W2078546070","https://openalex.org/W2097751477","https://openalex.org/W2099740328","https://openalex.org/W2108701341","https://openalex.org/W2125428839","https://openalex.org/W2144331654","https://openalex.org/W2157454779","https://openalex.org/W2158334184","https://openalex.org/W2158590609","https://openalex.org/W2161468919","https://openalex.org/W2165448326","https://openalex.org/W2416997604","https://openalex.org/W2460169242"],"related_works":["https://openalex.org/W2039717950","https://openalex.org/W7058264992","https://openalex.org/W2157454779","https://openalex.org/W7140254873","https://openalex.org/W2125428839","https://openalex.org/W229935974","https://openalex.org/W1860461817","https://openalex.org/W4322723625","https://openalex.org/W2923344743","https://openalex.org/W2500540615"],"abstract_inverted_index":{"Ebstein":[0,29,48,67,112,180,208],"anomaly":[1,30,49,68,181,209],"is":[2,31,143,174],"a":[3,14,43,53,197],"rare":[4,44],"congenital":[5,204],"heart":[6,77,205],"defect":[7,82],"that":[8,117,157],"most":[9],"often":[10],"occurs":[11],"sporadically":[12],"within":[13],"kindred.":[15],"Familial":[16],"cases,":[17],"although":[18],"reported,":[19],"are":[20],"uncommon.":[21],"At":[22],"this":[23],"time,":[24],"the":[25,58,100,118,123,131,138,160,164,175,184,188],"genetic":[26],"etiology":[27],"of":[28,42,46,57,63,93,98,105,130,150,152,178,187,203],"not":[32,169],"fully":[33],"elucidated.":[34],"Here,":[35],"we":[36],"describe":[37],"clinical":[38],"and":[39,66,83,103,142,210,218],"molecular":[40],"investigations":[41],"case":[45],"familial":[47,179],"in":[50,72,90,127,145,196],"association":[51,73],"with":[52,74,111,183,194,199],"likely":[54],"pathogenic":[55],"mutation":[56,186,192],"MYH7":[59,132,135,189],"gene.":[60,133,190],"The":[61,134,191],"severity":[62],"presentation":[64],"varies,":[65],"can":[69],"be":[70],"observed":[71],"such":[75],"other":[76,211],"defects":[78,206,214],"as":[79,88],"ventricular":[80,85,219],"septal":[81,220],"left":[84],"(LV)":[86],"hypertrabeculation,":[87],"seen":[89],"our":[91,96],"family":[92,97,198],"study.":[94],"In":[95],"study,":[99],"31-year-old":[101],"father":[102,119],"four":[104],"his":[106,153],"children":[107,155],"have":[108],"been":[109],"diagnosed":[110],"anomaly.":[113],"Genetic":[114],"testing":[115],"revealed":[116],"was":[120,168],"heterozygous":[121],"for":[122,171],"Glu1220del":[124,185],"variant":[125,162],"detected":[126],"exon":[128],"27":[129],"gene":[136],"encodes":[137],"\u03b2-myosin":[139],"heavy":[140],"chain":[141],"expressed":[144],"cardiac":[146],"muscle.":[147],"DNA":[148],"sequencing":[149],"three":[151],"affected":[154,166],"confirmed":[156],"they":[158],"carried":[159],"same":[161],"while":[163],"fourth":[165],"child":[167],"available":[170],"testing.":[172],"This":[173],"first":[176],"report":[177],"associated":[182,212],"segregates":[193],"disease":[195],"autosomal":[200],"dominant":[201],"transmission":[202],"including":[207,215],"cardiovascular":[213],"LV":[216],"hypertrabeculation":[217],"defect.":[221]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}