{"id":"https://openalex.org/W4408968261","doi":"https://doi.org/10.1016/s0735-1097(25)00817-4","title":"PHENOTYPIC PRESENTATION OF FAMILY MEMBERS OF ATTRV PROBANDS AND SUBSEQUENT DISEASE PENETRANCE","display_name":"PHENOTYPIC PRESENTATION OF FAMILY MEMBERS OF ATTRV PROBANDS AND SUBSEQUENT DISEASE PENETRANCE","publication_year":2025,"publication_date":"2025-03-29","ids":{"openalex":"https://openalex.org/W4408968261","doi":"https://doi.org/10.1016/s0735-1097(25)00817-4"},"language":"en","primary_location":{"id":"doi:10.1016/s0735-1097(25)00817-4","doi":"https://doi.org/10.1016/s0735-1097(25)00817-4","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(25)00817-4","pdf_url":"https://www.jacc.org/doi/pdf/10.1016/S0735-1097%2825%2900817-4?download=true","source":{"id":"https://openalex.org/S60865174","display_name":"Journal of the American College of Cardiology","issn_l":"0735-1097","issn":["0735-1097","1558-3597"],"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/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American College of Cardiology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://www.jacc.org/doi/pdf/10.1016/S0735-1097%2825%2900817-4?download=true","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008234724","display_name":"Luca Fazzini","orcid":"https://orcid.org/0000-0003-2407-7435","observed_orcids":["https://orcid.org/0000-0003-2407-7435"]},"institutions":[{"id":"https://openalex.org/I172446870","display_name":"University of Cagliari","ror":"https://ror.org/003109y17","country_code":"IT","type":"education","lineage":["https://openalex.org/I172446870"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Luca Fazzini","raw_affiliation_strings":["Department of Cardiovascular Medicine","Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy"],"raw_orcid":"https://orcid.org/0000-0003-2407-7435","affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]},{"raw_affiliation_string":"Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy","institution_ids":["https://openalex.org/I172446870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068227868","display_name":"Matteo Castrichini","orcid":"https://orcid.org/0000-0002-2405-3364","observed_orcids":["https://orcid.org/0000-0002-2405-3364"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Matteo Castrichini","raw_affiliation_strings":["Department of Cardiovascular Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5158398014","display_name":"Yan Li","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Yan Li","raw_affiliation_strings":["Department of Quantitative Health Science, Division of Clinical Trials and Biostatistics"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Quantitative Health Science, Division of Clinical Trials and Biostatistics","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111318697","display_name":"Jose De Melo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jose De Melo","raw_affiliation_strings":["Department of Cardiovascular Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025859235","display_name":"Marta Figueiral","orcid":"https://orcid.org/0000-0003-3308-774X","observed_orcids":["https://orcid.org/0000-0003-3308-774X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Marta Figueiral","raw_affiliation_strings":["Department of Cardiovascular Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5158334791","display_name":"Jenny J. Cao","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jenny J. Cao","raw_affiliation_strings":["Department of Cardiovascular Medicine"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5158295336","display_name":"Eric W. Klee","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Eric W. Klee","raw_affiliation_strings":["Department of Quantitative Health Science, Division of Computational Biology"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Quantitative Health Science, Division of Computational Biology","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5158381947","display_name":"Christian Cadeddu Dessalvi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I172446870","display_name":"University of Cagliari","ror":"https://ror.org/003109y17","country_code":"IT","type":"education","lineage":["https://openalex.org/I172446870"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Christian Cadeddu Dessalvi","raw_affiliation_strings":["Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy","institution_ids":["https://openalex.org/I172446870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072877047","display_name":"Martha A. Grogan","orcid":"https://orcid.org/0000-0002-2541-4440","observed_orcids":["https://orcid.org/0000-0002-2541-4440"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Martha Grogan","raw_affiliation_strings":["Department of Cardiovascular Medicine"],"raw_orcid":"https://orcid.org/0000-0002-2541-4440","affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000308170","display_name":"Angela A. Dispenzieri","orcid":"https://orcid.org/0000-0001-8780-9512","observed_orcids":["https://orcid.org/0000-0001-8780-9512"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Angela Dispenzieri","raw_affiliation_strings":["Division of Hematology (A.D.), Mayo Clinic, Rochester, MN"],"raw_orcid":"https://orcid.org/0000-0001-8780-9512","affiliations":[{"raw_affiliation_string":"Division of Hematology (A.D.), Mayo Clinic, Rochester, MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007593170","display_name":"Naveen L. Pereira","orcid":"https://orcid.org/0000-0003-3813-3469","observed_orcids":["https://orcid.org/0000-0003-3813-3469"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Naveen L. Pereira","raw_affiliation_strings":["Department of Cardiovascular Medicine"],"raw_orcid":"https://orcid.org/0000-0003-3813-3469","affiliations":[{"raw_affiliation_string":"Department of Cardiovascular Medicine","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5007593170"],"corresponding_institution_ids":[],"apc_list":{"value":7166,"currency":"USD","value_usd":7166},"apc_paid":{"value":7166,"currency":"USD","value_usd":7166},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.06108816,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"85","issue":"12","first_page":"332","last_page":"332"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.25099998712539673,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.25099998712539673,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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":0.20759999752044678,"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":0.14059999585151672,"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/familial-hypercholesterolemia","display_name":"familial hypercholesterolemia","score":0.8059999942779541},{"id":"https://openalex.org/keywords/family-members","display_name":"family members","score":0.574999988079071},{"id":"https://openalex.org/keywords/disease-penetrance","display_name":"disease penetrance","score":0.9290000200271606},{"id":"https://openalex.org/keywords/cardiovascular-risk","display_name":"cardiovascular risk","score":0.3240000009536743}],"concepts":[{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.9598496556282043},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9117856621742249},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.865691602230072},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.6554617881774902},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6367910504341125},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.6160388588905334},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5012648105621338},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.48737627267837524},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.17346081137657166},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.1594884991645813},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.06847819685935974},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.05485457181930542},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1016/s0735-1097(25)00817-4","doi":"https://doi.org/10.1016/s0735-1097(25)00817-4","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(25)00817-4","pdf_url":"https://www.jacc.org/doi/pdf/10.1016/S0735-1097%2825%2900817-4?download=true","source":{"id":"https://openalex.org/S60865174","display_name":"Journal of the American College of Cardiology","issn_l":"0735-1097","issn":["0735-1097","1558-3597"],"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/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American College of Cardiology","raw_type":"journal-article"},{"id":"doi:10.1101/2024.09.06.24313219","doi":"https://doi.org/10.1101/2024.09.06.24313219","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2024.09.06.24313219","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2024/09/07/2024.09.06.24313219.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.1016/s0735-1097(25)00817-4","doi":"https://doi.org/10.1016/s0735-1097(25)00817-4","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0735-1097(25)00817-4","pdf_url":"https://www.jacc.org/doi/pdf/10.1016/S0735-1097%2825%2900817-4?download=true","source":{"id":"https://openalex.org/S60865174","display_name":"Journal of the American College of Cardiology","issn_l":"0735-1097","issn":["0735-1097","1558-3597"],"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/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of the American College of Cardiology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4408968261.pdf","grobid_xml":"https://content.openalex.org/works/W4408968261.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W1971357273","https://openalex.org/W1980144587","https://openalex.org/W2026704636","https://openalex.org/W2051978340","https://openalex.org/W2096319356","https://openalex.org/W2114075554","https://openalex.org/W2117165146","https://openalex.org/W2162772358","https://openalex.org/W2465483060","https://openalex.org/W2575846051","https://openalex.org/W2793784035","https://openalex.org/W2885181221","https://openalex.org/W2902227152","https://openalex.org/W2948364217","https://openalex.org/W2979563966","https://openalex.org/W3009897993","https://openalex.org/W3031419728","https://openalex.org/W3044809358","https://openalex.org/W3097407019","https://openalex.org/W3121867295","https://openalex.org/W3149251178","https://openalex.org/W3174081426","https://openalex.org/W3197989795","https://openalex.org/W4283029074","https://openalex.org/W4283266165","https://openalex.org/W4289878937","https://openalex.org/W4292661123","https://openalex.org/W4294225459","https://openalex.org/W4309338723","https://openalex.org/W4309928108","https://openalex.org/W4317761849","https://openalex.org/W4386303559","https://openalex.org/W4386746973","https://openalex.org/W4388420800","https://openalex.org/W4396842712","https://openalex.org/W4401948914"],"related_works":["https://openalex.org/W4412630294","https://openalex.org/W4406412807","https://openalex.org/W4206366513","https://openalex.org/W7127913823","https://openalex.org/W4311734280","https://openalex.org/W4316464078","https://openalex.org/W7128006029","https://openalex.org/W4225709144","https://openalex.org/W4321497850","https://openalex.org/W4283591937"],"abstract_inverted_index":{"Abstract":[0],"BACKGROUND":[1],"Hereditary":[2],"transthyretin":[3],"amyloid":[4],"cardiomyopathy":[5],"(ATTRv-CM)":[6],"is":[7,235],"being":[8],"increasingly":[9],"diagnosed":[10],"due":[11],"to":[12,70,122,220],"enhanced":[13],"awareness":[14],"and":[15,34,58,73,89,96,116,125,163,208,246],"availability":[16],"of":[17,36,81,106,127,152,159,191,218,232,250],"newer":[18],"therapeutics.":[19],"Multiple":[20],"TTR":[21,42],"variants":[22],"have":[23],"been":[24],"described":[25],"worldwide,":[26],"but":[27],"with":[28,156,186,199],"uncertain":[29],"disease":[30],"penetrance.":[31],"The":[32,103],"characteristics":[33,109],"outcomes":[35],"\u201cpreviously":[37,77],"undiagnosed\u201d":[38,78],"pathogenic-likely":[39],"pathogenic":[40],"(P/LP)":[41],"variant":[43],"(genotype":[44],"or":[45,49],"G+;":[46],"cardiac":[47,74,92],"phenotype":[48,72],"P-)":[50],"carriers":[51],"are":[52],"unknown":[53],"which":[54],"has":[55],"important":[56],"prognostic":[57],"therapeutic":[59],"implications,":[60],"especially":[61],"for":[62,110,238],"affected":[63],"family":[64,131,201,228],"members.":[65,132],"This":[66],"descriptive":[67],"study":[68],"aimed":[69],"delineate":[71],"penetrance":[75,197],"in":[76,130],"G+P-family":[79,137],"members":[80,138],"ATTRv":[82],"probands.":[83],"METHODS":[84],"Demographic,":[85],"electrocardiographic":[86],"(ECG),":[87],"genetic,":[88],"imaging":[90,176],"(echocardiography,":[91],"technetium-99m":[93],"pyrophosphate":[94],"(PYP)":[95],"magnetic":[97],"resonance":[98],"imaging)":[99],"data":[100],"were":[101,120,135,146,214],"analyzed.":[102],"prediction":[104,212],"effect":[105],"selected":[107],"baseline":[108,216],"ATTRv-CM":[111,128,221],"development":[112,129,240],"was":[113,142],"evaluated.":[114],"Kaplan-Meier":[115],"Cox":[117],"regression":[118],"methods":[119],"used":[121],"describe":[123],"risk":[124,190],"predictors":[126,217],"RESULTS":[133],"There":[134],"85":[136],"identified.":[139],"Mean":[140],"age":[141,206,245],"48.5\u00b111.7":[143],"years,":[144],"39%":[145],"male,":[147],"18%":[148],"had":[149,165,174],"a":[150,157,179,187],"diagnosis":[151,205,244],"peripheral":[153],"neuropathy,":[154],"15%":[155],"history":[158],"carpal":[160],"tunnel":[161],"syndrome,":[162],"4%":[164],"atrioventricular":[166],"block":[167],"at":[168],"baseline.":[169],"Of":[170],"these,":[171],"55":[172],"patients":[173],"follow-up":[175],"studies.":[177],"After":[178],"median":[180],"6.8-year":[181],"follow-up,":[182],"22%":[183],"developed":[184],"ATTR-CM":[185,251],"10-year":[188],"estimated":[189],"29.5%":[192],"(95%":[193],"CI":[194],"7.9-46.0).":[195],"Cardiac":[196],"increased":[198],"increasing":[200],"member\u2019s":[202],"age.":[203],"Proband\u2019s":[204],"(p=0.0096)":[207],"artificial":[209],"intelligence":[210],"(AI)-ECG":[211],"(p=0.0091)":[213],"promising":[215],"time":[219],"development.":[222],"CONCLUSION":[223],"In":[224],"previously":[225],"undiagnosed":[226],"G+P-ATTRv":[227],"members,":[229],"the":[230],"incidence":[231],"subsequent":[233],"CM":[234,239],"high.":[236],"Predictors":[237],"such":[241],"as":[242],"proband\u2019s":[243],"AI-determined":[247],"ECG":[248],"probability":[249],"require":[252],"further":[253],"investigation.":[254]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2025-03-30T00:00:00"}