Frederick L Ruberg,Sergio Teruya,Stephen Helmke,Dia A Smiley,Denise Fine,Damian Kurian,Farbod Raiszadeh,Tatiana Prokaeva,Brian Spencer,Sherry Wong,Shivda Pandey,William S Blaner,Albert DeLuca,Lynne L Johnson,Mona P Kinkhabwala,Jay Leb,Akiva Mintz,Michael P LaValley,Andrew J Einstein,Elizabeth Cohn,Cesia Gallegos,Gillian Murtagh,Jeffery W Kelly,Edward J Miller,Mathew S Maurer
{"title":"Transthyretin Cardiac Amyloidosis in Older Black and Hispanic Individuals With Heart Failure.","authors":"Frederick L Ruberg,Sergio Teruya,Stephen Helmke,Dia A Smiley,Denise Fine,Damian Kurian,Farbod Raiszadeh,Tatiana Prokaeva,Brian Spencer,Sherry Wong,Shivda Pandey,William S Blaner,Albert DeLuca,Lynne L Johnson,Mona P Kinkhabwala,Jay Leb,Akiva Mintz,Michael P LaValley,Andrew J Einstein,Elizabeth Cohn,Cesia Gallegos,Gillian Murtagh,Jeffery W Kelly,Edward J Miller,Mathew S Maurer","doi":"10.1001/jamacardio.2025.2948","DOIUrl":null,"url":null,"abstract":"Importance\r\nTransthyretin cardiac amyloidosis (ATTR-CA) is an underdiagnosed but treatable cause of heart failure (HF) in older individuals that occurs in the context of normal wild-type (ATTRwt-CA) or an abnormal inherited (ATTRv-CA) TTR gene variant. While the most common inherited TTR variant, V142I, occurs in 3% to 4% of self-identified Black Americans and is associated with excess morbidity and mortality, the prevalence of ATTR-CA in this at-risk population is unknown.\r\n\r\nObjective\r\nTo define the prevalence of ATTR-CA and proportions attributable to ATTRwt-CA or ATTRv-CA among older Black and Caribbean Hispanic individuals with HF.\r\n\r\nDesign, Setting, and Participants\r\nThis prospective, multicenter, cross-sectional study was conducted in several major US cities (Boston, Massachusetts; New York, New York; and New Haven, Connecticut) among individuals who self-identified as Black or Caribbean Hispanic older than 60 years with HF. Participants were enrolled between May 2019 and June 2024, and data analysis was conducted from June 2024 to May 2025.\r\n\r\nMain Outcomes and Measures\r\nATTR-CA was determined by radionuclide imaging, with blood testing to exclude light-chain amyloidosis and genotyping to determine TTR gene variant. Echocardiographic, biochemical, physical performance, and quality-of-life data were collected.\r\n\r\nResults\r\nAmong 646 participants, median (IQR) participant age was 73 (66-80) years, 329 (50.6%) were women, 550 (85.1%) identified as Black, and 186 (28.8%) identified as Caribbean Hispanic. Median (IQR) left ventricular wall thickness was 13 (12-14) mm, and median (IQR) left ventricular ejection fraction was 61% (55%-66%). Overall prevalence of ATTR-CA was 6.66% (95% CI, 4.73%-8.58%), of whom 24 (55.8%) had ATTRwt-CA and 19 (44.2%) had ATTRv-CA owing to V142I. Overall prevalence of V142I allele was 5.6%, and of those, 19 (52.8%) had ATTRv-CA. Prevalence of ATTR-CA was 8.15% (95% CI, 5.15%-11.15%) in men and 5.20% (95% CI, 2.79%-7.61%) in women (P = .13). Prevalence of ATTR-CA was 7.82% (95% CI, 5.57%-10.06%) in Black participants and 2.15% (95% CI, 0.07%-4.24%) in Hispanic participants (P = .004). Among Black participants aged 75 years or younger, ATTR-CA was observed in 3.42% of participants (95% CI, 1.43%-5.40%) compared to 14.04% (95% CI, 9.53%-18.54%) of those older than 75 years (P < .001). Among Black male participants older than 75 years, prevalence of ATTR-CA was 17.17% (95% CI, 9.74%-24.60%).\r\n\r\nConclusions and Relevance\r\nIn this cross-sectional study, ATTR-CA was an important cause of HF in older Black individuals with HF, particularly in men older than 75 years. Approximately half of V142I carriers with HF had ATTR-CA, while 55.8% of all ATTR-CA cases had normal TTR genotype.\r\n\r\nTrial Registration\r\nClinicalTrials.gov Identifier: NCT03812172.","PeriodicalId":14657,"journal":{"name":"JAMA cardiology","volume":"64 1","pages":""},"PeriodicalIF":14.1000,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"JAMA cardiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1001/jamacardio.2025.2948","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
Importance
Transthyretin cardiac amyloidosis (ATTR-CA) is an underdiagnosed but treatable cause of heart failure (HF) in older individuals that occurs in the context of normal wild-type (ATTRwt-CA) or an abnormal inherited (ATTRv-CA) TTR gene variant. While the most common inherited TTR variant, V142I, occurs in 3% to 4% of self-identified Black Americans and is associated with excess morbidity and mortality, the prevalence of ATTR-CA in this at-risk population is unknown.
Objective
To define the prevalence of ATTR-CA and proportions attributable to ATTRwt-CA or ATTRv-CA among older Black and Caribbean Hispanic individuals with HF.
Design, Setting, and Participants
This prospective, multicenter, cross-sectional study was conducted in several major US cities (Boston, Massachusetts; New York, New York; and New Haven, Connecticut) among individuals who self-identified as Black or Caribbean Hispanic older than 60 years with HF. Participants were enrolled between May 2019 and June 2024, and data analysis was conducted from June 2024 to May 2025.
Main Outcomes and Measures
ATTR-CA was determined by radionuclide imaging, with blood testing to exclude light-chain amyloidosis and genotyping to determine TTR gene variant. Echocardiographic, biochemical, physical performance, and quality-of-life data were collected.
Results
Among 646 participants, median (IQR) participant age was 73 (66-80) years, 329 (50.6%) were women, 550 (85.1%) identified as Black, and 186 (28.8%) identified as Caribbean Hispanic. Median (IQR) left ventricular wall thickness was 13 (12-14) mm, and median (IQR) left ventricular ejection fraction was 61% (55%-66%). Overall prevalence of ATTR-CA was 6.66% (95% CI, 4.73%-8.58%), of whom 24 (55.8%) had ATTRwt-CA and 19 (44.2%) had ATTRv-CA owing to V142I. Overall prevalence of V142I allele was 5.6%, and of those, 19 (52.8%) had ATTRv-CA. Prevalence of ATTR-CA was 8.15% (95% CI, 5.15%-11.15%) in men and 5.20% (95% CI, 2.79%-7.61%) in women (P = .13). Prevalence of ATTR-CA was 7.82% (95% CI, 5.57%-10.06%) in Black participants and 2.15% (95% CI, 0.07%-4.24%) in Hispanic participants (P = .004). Among Black participants aged 75 years or younger, ATTR-CA was observed in 3.42% of participants (95% CI, 1.43%-5.40%) compared to 14.04% (95% CI, 9.53%-18.54%) of those older than 75 years (P < .001). Among Black male participants older than 75 years, prevalence of ATTR-CA was 17.17% (95% CI, 9.74%-24.60%).
Conclusions and Relevance
In this cross-sectional study, ATTR-CA was an important cause of HF in older Black individuals with HF, particularly in men older than 75 years. Approximately half of V142I carriers with HF had ATTR-CA, while 55.8% of all ATTR-CA cases had normal TTR genotype.
Trial Registration
ClinicalTrials.gov Identifier: NCT03812172.
JAMA cardiologyMedicine-Cardiology and Cardiovascular Medicine
CiteScore
45.80
自引率
1.70%
发文量
264
期刊介绍:
JAMA Cardiology, an international peer-reviewed journal, serves as the premier publication for clinical investigators, clinicians, and trainees in cardiovascular medicine worldwide. As a member of the JAMA Network, it aligns with a consortium of peer-reviewed general medical and specialty publications.
Published online weekly, every Wednesday, and in 12 print/online issues annually, JAMA Cardiology attracts over 4.3 million annual article views and downloads. Research articles become freely accessible online 12 months post-publication without any author fees. Moreover, the online version is readily accessible to institutions in developing countries through the World Health Organization's HINARI program.
Positioned at the intersection of clinical investigation, actionable clinical science, and clinical practice, JAMA Cardiology prioritizes traditional and evolving cardiovascular medicine, alongside evidence-based health policy. It places particular emphasis on health equity, especially when grounded in original science, as a top editorial priority.