Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.10.013
Elizabeth M. McNally MD
{"title":"A Multiple Hit Model for Genetic Susceptibility to Cardiomyopathy","authors":"Elizabeth M. McNally MD","doi":"10.1016/j.jchf.2024.10.013","DOIUrl":"10.1016/j.jchf.2024.10.013","url":null,"abstract":"","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 149-153"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.10.012
Antoni Bayés-Genis MD, PhD , Clare J. Taylor MD
{"title":"Elevated NT-proBNP in Heart Failure and CKD","authors":"Antoni Bayés-Genis MD, PhD , Clare J. Taylor MD","doi":"10.1016/j.jchf.2024.10.012","DOIUrl":"10.1016/j.jchf.2024.10.012","url":null,"abstract":"","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 40-42"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.08.004
Jimmy Zheng MD, MS , Alexander T. Sandhu MD, MS , Ankeet S. Bhatt MD, MBA, ScM , Sean P. Collins MD, MSc , Kelsey M. Flint MD, MSCS , Gregg C. Fonarow MD , Marat Fudim MD, MHS , Stephen J. Greene MD , Paul A. Heidenreich MD, MS , Anuradha Lala MD , Jeffrey M. Testani MD, MTR , Anubodh S. Varshney MD , Ryan S.K. Wi BS , Andrew P. Ambrosy MD
Background
Guideline-directed medical therapy (GDMT) for heart failure with reduced ejection fraction (HFrEF) remains underused. Acute heart failure (HF) hospitalization represents a critical opportunity for rapid initiation of evidence-based medications. However, data on GDMT use at discharge are mostly derived from national quality improvement registries.
Objectives
This study aimed to describe contemporary GDMT use patterns across HF hospitalizations at community-based health systems.
Methods
The authors identified HF hospitalizations from 2016 to 2022 in a U.S. database aggregating deidentified electronic health record data from more than 30 health systems. In-hospital and discharge rates of GDMT use were reported for eligible HFrEF patients. Factors associated with inpatient GDMT use and predischarge discontinuation were evaluated with the use of multivariable models.
Results
A total of 20,387 HF hospitalizations among 13,729 HFrEF patients were identified. Renin-angiotensin system inhibitors, beta-blockers, and mineralocorticoid receptor antagonists were administered during 70%, 86%, and 37% of eligible hospitalizations, respectively. Angiotensin receptor–neprilysin inhibitors and sodium-glucose cotransporter 2 inhibitors were used in 17% and 8% of eligible hospitalizations, respectively. Discharge GDMT rates were low. Triple/quadruple therapy was administered in 26% of hospitalizations, falling to 14% on discharge. Predischarge GDMT discontinuations were associated with inpatient hypotension, hyperkalemia, and worsening renal function, but 43%-57% had no medical contraindications. In adjusted analyses, use of 3 or more GDMT classes was associated with fewer 90-day all-cause deaths and HF readmissions compared with less comprehensive GDMT.
Conclusions
Inpatient GDMT use in a national analysis of HF hospitalizations was lower than reported in quality improvement registries. High discontinuation rates emphasize an unmet need for inpatient and postdischarge strategies to optimize GDMT use.
{"title":"Inpatient Use of Guideline-Directed Medical Therapy During Heart Failure Hospitalizations Among Community-Based Health Systems","authors":"Jimmy Zheng MD, MS , Alexander T. Sandhu MD, MS , Ankeet S. Bhatt MD, MBA, ScM , Sean P. Collins MD, MSc , Kelsey M. Flint MD, MSCS , Gregg C. Fonarow MD , Marat Fudim MD, MHS , Stephen J. Greene MD , Paul A. Heidenreich MD, MS , Anuradha Lala MD , Jeffrey M. Testani MD, MTR , Anubodh S. Varshney MD , Ryan S.K. Wi BS , Andrew P. Ambrosy MD","doi":"10.1016/j.jchf.2024.08.004","DOIUrl":"10.1016/j.jchf.2024.08.004","url":null,"abstract":"<div><h3>Background</h3><div>Guideline-directed medical therapy (GDMT) for heart failure with reduced ejection fraction (HFrEF) remains underused. Acute heart failure (HF) hospitalization represents a critical opportunity for rapid initiation of evidence-based medications. However, data on GDMT use at discharge are mostly derived from national quality improvement registries.</div></div><div><h3>Objectives</h3><div>This study aimed to describe contemporary GDMT use patterns across HF hospitalizations at community-based health systems.</div></div><div><h3>Methods</h3><div>The authors identified HF hospitalizations from 2016 to 2022 in a U.S. database aggregating deidentified electronic health record data from more than 30 health systems. In-hospital and discharge rates of GDMT use were reported for eligible HFrEF patients. Factors associated with inpatient GDMT use and predischarge discontinuation were evaluated with the use of multivariable models.</div></div><div><h3>Results</h3><div>A total of 20,387 HF hospitalizations among 13,729 HFrEF patients were identified. Renin-angiotensin system inhibitors, beta-blockers, and mineralocorticoid receptor antagonists were administered during 70%, 86%, and 37% of eligible hospitalizations, respectively. Angiotensin receptor–neprilysin inhibitors and sodium-glucose cotransporter 2 inhibitors were used in 17% and 8% of eligible hospitalizations, respectively. Discharge GDMT rates were low. Triple/quadruple therapy was administered in 26% of hospitalizations, falling to 14% on discharge. Predischarge GDMT discontinuations were associated with inpatient hypotension, hyperkalemia, and worsening renal function, but 43%-57% had no medical contraindications. In adjusted analyses, use of 3 or more GDMT classes was associated with fewer 90-day all-cause deaths and HF readmissions compared with less comprehensive GDMT.</div></div><div><h3>Conclusions</h3><div>Inpatient GDMT use in a national analysis of HF hospitalizations was lower than reported in quality improvement registries. High discontinuation rates emphasize an unmet need for inpatient and postdischarge strategies to optimize GDMT use.</div></div>","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 43-54"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.09.014
Amin Yehya MD, MS , Jose Lopez MD , Andrew J. Sauer MD , Jonathan D. Davis MD , Nasrien E. Ibrahim MD, MPH , Roderick Tung MD , Biykem Bozkurt MD, PhD , Gregg C. Fonarow MD , Sana M. Al-Khatib MD, MHS
Implantable cardioverter-defibrillators (ICDs) are recommended to reduce the risk of sudden cardiac death (SCD) in patients with heart failure with reduced ejection fraction (HFrEF). The landmark studies leading to the current guideline recommendations preceded the 4 pillars of guideline-directed medical therapies (GDMTs). Therefore, some have questioned the role of ICDs for primary prevention in current clinical practice. In this paper, the authors provide an overview of the current ICD recommendations, including the instrumental clinical trials, the risk of SCD as observed in clinical trials vs real-world scenarios, disparities in ICD use among different patient populations, the impact of contemporary GDMT on outcomes, and ongoing and future trials and methodologies to help identify patients who are at an increased risk of SCD and who may benefit from an ICD. The authors also propose a pragmatic guidance for clinicians when they engage in the shared decision-making discussions for primary ICD implantation.
{"title":"Revisiting ICD Therapy for Primary Prevention in Patients With Heart Failure and Reduced Ejection Fraction","authors":"Amin Yehya MD, MS , Jose Lopez MD , Andrew J. Sauer MD , Jonathan D. Davis MD , Nasrien E. Ibrahim MD, MPH , Roderick Tung MD , Biykem Bozkurt MD, PhD , Gregg C. Fonarow MD , Sana M. Al-Khatib MD, MHS","doi":"10.1016/j.jchf.2024.09.014","DOIUrl":"10.1016/j.jchf.2024.09.014","url":null,"abstract":"<div><div>Implantable cardioverter-defibrillators (ICDs) are recommended to reduce the risk of sudden cardiac death (SCD) in patients with heart failure with reduced ejection fraction (HFrEF). The landmark studies leading to the current guideline recommendations preceded the 4 pillars of guideline-directed medical therapies (GDMTs). Therefore, some have questioned the role of ICDs for primary prevention in current clinical practice. In this paper, the authors provide an overview of the current ICD recommendations, including the instrumental clinical trials, the risk of SCD as observed in clinical trials vs real-world scenarios, disparities in ICD use among different patient populations, the impact of contemporary GDMT on outcomes, and ongoing and future trials and methodologies to help identify patients who are at an increased risk of SCD and who may benefit from an ICD. The authors also propose a pragmatic guidance for clinicians when they engage in the shared decision-making discussions for primary ICD implantation.</div></div>","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 1-13"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.09.018
Adriaan A. Voors MD, PhD, Kevin Damman MD, PhD, Iris E. Beldhuis MD, Peter van der Meer MD, PhD, Jan A. Krikken MD, PhD, Jenifer E. Coster MD, Wybe Nieuwland MD, PhD, Dirk J. van Veldhuisen MD, PhD, Jozine M. ter Maaten MD, PhD
{"title":"Discharge Medication After Natriuresis-Guided Dosing of Diuretic Therapy in Patients Hospitalized for Acute Heart Failure","authors":"Adriaan A. Voors MD, PhD, Kevin Damman MD, PhD, Iris E. Beldhuis MD, Peter van der Meer MD, PhD, Jan A. Krikken MD, PhD, Jenifer E. Coster MD, Wybe Nieuwland MD, PhD, Dirk J. van Veldhuisen MD, PhD, Jozine M. ter Maaten MD, PhD","doi":"10.1016/j.jchf.2024.09.018","DOIUrl":"10.1016/j.jchf.2024.09.018","url":null,"abstract":"","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 179-181"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142813223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.08.009
Brendon L. Neuen MBBS, MSc, PhD , Muthiah Vaduganathan MD, MPH , Brian L. Claggett PhD , Iris Beldhuis MD , Peder Myhre MD, PhD , Akshay S. Desai MD, MPH , Hicham Skali MD, MSc , Finnian R. Mc Causland MBBCh , Martina McGrath MBBCh , Inder Anand MD , Michael R. Zile MD , Marc A. Pfeffer MD, PhD , John J.V. McMurray MD , Scott D. Solomon MD
<div><h3>Background</h3><div>N-terminal pro–B-type natriuretic peptides (NT-proBNPs) are guideline-recommended biomarkers for risk stratification in patients with heart failure. However, NT-proBNP levels are often elevated in chronic kidney disease, introducing uncertainty about their prognostic relevance in persons across a broad range of estimated glomerular filtration rate (eGFR).</div></div><div><h3>Objectives</h3><div>The aim of this study was to assess the association of NT-proBNP with cardiovascular and mortality outcomes in patients with heart failure and mildly reduced or preserved ejection fraction, stratified by baseline kidney function.</div></div><div><h3>Methods</h3><div>A pooled analysis was conducted of participants with NT-proBNP and eGFR measured at baseline in the I-PRESERVE (Irbesartan in Heart Failure and Preserved Ejection Fraction), TOPCAT (Americas region) (Aldosterone Antagonist Therapy for Adults With Heart Failure and Preserved Systolic Function), PARAGON (Prospective Comparison of ARNI with ARB Global Outcomes in HF With Preserved Ejection Fraction), and DELIVER (Dapagliflozin Evaluation to Improve the LIVEs of Patients With PReserved Ejection Fraction Heart Failure) trials. The relationship between NT-proBNP and eGFR was assessed using piecewise linear regression. Using multivariable Cox and Poisson regression models, the association of NT-proBNP with outcomes across a range of eGFR was evaluated. The primary outcome was hospitalization for heart failure or cardiovascular death.</div></div><div><h3>Results</h3><div>Among 14,831 participants (mean age: 72.1 years; 50.3% female; mean eGFR: 63.3 mL/min/1.73 m<sup>2</sup>, and median NT-proBNP: 840 pg/mL) followed up for a median 33.5 months, there were 3,092 primary outcomes. NT-proBNP levels increased by 9%, 8%, and 23% per 10 mL/min/1.73 m<sup>2</sup> lower eGFR in patients with baseline eGFR ≥60, 45-<60, and <45 mL/min/1.73 m<sup>2</sup>, respectively (<em>P</em> for nonlinearity < 0.001). Each doubling in NT-proBNP was associated with a 37% relative increase in the primary outcome (HR: 1.37; 95% CI: 1.34-1.41), consistent across different eGFR categories (<em>P</em> for interaction = 0.42). For the same incidence of the primary outcome, NT-proBNP levels were approximately 2.5- to 3.5-fold lower in patients with eGFR <45 mL/min/1.73 m<sup>2</sup>, compared with patients with eGFR ≥60 mL/min/1.73 m<sup>2</sup>. Similar patterns were observed across all outcomes studied, including cardiovascular and noncardiovascular death.</div></div><div><h3>Conclusions</h3><div>The same NT-proBNP concentration predicts a substantially higher absolute risk of adverse outcomes for people with heart failure and reduced kidney function, compared with those with preserved kidney function. These data call into question proposals for higher NT-proBNP references ranges in people with CKD, and suggest that reduced kidney function per se should not be a reason to disregard higher N
{"title":"Natriuretic Peptides, Kidney Function, and Clinical Outcomes in Heart Failure With Preserved Ejection Fraction","authors":"Brendon L. Neuen MBBS, MSc, PhD , Muthiah Vaduganathan MD, MPH , Brian L. Claggett PhD , Iris Beldhuis MD , Peder Myhre MD, PhD , Akshay S. Desai MD, MPH , Hicham Skali MD, MSc , Finnian R. Mc Causland MBBCh , Martina McGrath MBBCh , Inder Anand MD , Michael R. Zile MD , Marc A. Pfeffer MD, PhD , John J.V. McMurray MD , Scott D. Solomon MD","doi":"10.1016/j.jchf.2024.08.009","DOIUrl":"10.1016/j.jchf.2024.08.009","url":null,"abstract":"<div><h3>Background</h3><div>N-terminal pro–B-type natriuretic peptides (NT-proBNPs) are guideline-recommended biomarkers for risk stratification in patients with heart failure. However, NT-proBNP levels are often elevated in chronic kidney disease, introducing uncertainty about their prognostic relevance in persons across a broad range of estimated glomerular filtration rate (eGFR).</div></div><div><h3>Objectives</h3><div>The aim of this study was to assess the association of NT-proBNP with cardiovascular and mortality outcomes in patients with heart failure and mildly reduced or preserved ejection fraction, stratified by baseline kidney function.</div></div><div><h3>Methods</h3><div>A pooled analysis was conducted of participants with NT-proBNP and eGFR measured at baseline in the I-PRESERVE (Irbesartan in Heart Failure and Preserved Ejection Fraction), TOPCAT (Americas region) (Aldosterone Antagonist Therapy for Adults With Heart Failure and Preserved Systolic Function), PARAGON (Prospective Comparison of ARNI with ARB Global Outcomes in HF With Preserved Ejection Fraction), and DELIVER (Dapagliflozin Evaluation to Improve the LIVEs of Patients With PReserved Ejection Fraction Heart Failure) trials. The relationship between NT-proBNP and eGFR was assessed using piecewise linear regression. Using multivariable Cox and Poisson regression models, the association of NT-proBNP with outcomes across a range of eGFR was evaluated. The primary outcome was hospitalization for heart failure or cardiovascular death.</div></div><div><h3>Results</h3><div>Among 14,831 participants (mean age: 72.1 years; 50.3% female; mean eGFR: 63.3 mL/min/1.73 m<sup>2</sup>, and median NT-proBNP: 840 pg/mL) followed up for a median 33.5 months, there were 3,092 primary outcomes. NT-proBNP levels increased by 9%, 8%, and 23% per 10 mL/min/1.73 m<sup>2</sup> lower eGFR in patients with baseline eGFR ≥60, 45-<60, and <45 mL/min/1.73 m<sup>2</sup>, respectively (<em>P</em> for nonlinearity < 0.001). Each doubling in NT-proBNP was associated with a 37% relative increase in the primary outcome (HR: 1.37; 95% CI: 1.34-1.41), consistent across different eGFR categories (<em>P</em> for interaction = 0.42). For the same incidence of the primary outcome, NT-proBNP levels were approximately 2.5- to 3.5-fold lower in patients with eGFR <45 mL/min/1.73 m<sup>2</sup>, compared with patients with eGFR ≥60 mL/min/1.73 m<sup>2</sup>. Similar patterns were observed across all outcomes studied, including cardiovascular and noncardiovascular death.</div></div><div><h3>Conclusions</h3><div>The same NT-proBNP concentration predicts a substantially higher absolute risk of adverse outcomes for people with heart failure and reduced kidney function, compared with those with preserved kidney function. These data call into question proposals for higher NT-proBNP references ranges in people with CKD, and suggest that reduced kidney function per se should not be a reason to disregard higher N","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 28-39"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142264027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01DOI: 10.1016/j.jchf.2024.08.019
Naman S. Shetty MD , Mokshad Gaonkar MS , Akhil Pampana MS , Nirav Patel MD, MSPH , Alanna C. Morrison PhD , Alexander P. Reiner MD, MSc , April P. Carson PhD , Bing Yu PhD , Bruce M. Psaty MD, PhD , Charles Kooperberg PhD , Diane Fatkin MD , Eric Boerwinkle PhD , Jerome I. Rotter MD , Kent D. Taylor PhD , Lifang Hou MD, PhD , Marguerite R. Irvin PhD , Michael E. Hall MD , Mathew Maurer MD , Myriam Fornage PhD , Nicole D. Armstrong PhD , Pankaj Arora MD
Background
Nearly 3% to 4% of Black individuals in the United States carry the transthyretin V142I variant, which increases their risk of heart failure. However, the role of cardiovascular (CV) risk factors (RFs) in influencing the risk of clinical outcomes among V142I variant carriers is unknown.
Objectives
This study aimed to assess the impact of CV RFs on the risk of heart failure in V142I carriers.
Methods
This study included self-identified Black individuals without prevalent heart failure from 6 TOPMed (Trans-Omics for Precision Medicine) cohorts, the REGARDS (Reasons for Geographic And Racial Differences in Stroke) study, and the All of Us Research Program. The cohort was stratified based on the V142I genotype and the number of CV RFs (hypertension, diabetes, obesity, and hypercholesterolemia). Adjusted Cox models were used to assess the association of heart failure with the V142I genotype and CV RF profile, taking noncarriers with a favorable CV RF profile as reference.
Results
The cross-sectional analysis, including 1,625 V142I carriers among 48,365 Black individuals, found that the prevalence of CV RFs did not vary by V142I carrier status. In the longitudinal analysis, there were 587 (3.2%) V142I carriers among 18,407 Black individuals (median age: 60 years [Q1-Q3: 52-68 years], 63.0% female). Among carriers, the heart failure risk was attenuated with a favorable (0 or 1 RF) CV RF profile (adjusted HR: 2.26; 95% CI: 1.58-3.23) compared with an unfavorable (3 or 4 RFs) CV RF profile (adjusted HR: 4.14; 95% CI: 2.79-6.14).
Conclusions
A favorable CV RF profile lowers but does not abrogate V142I variant-associated heart failure risk. This study highlights the importance of having a favorable CV RF profile among V142I carriers for risk reduction of heart failure.
背景：在美国，近 3% 至 4% 的黑人携带转甲状腺素 V142I 变异，这会增加他们患心力衰竭的风险。然而，心血管（CV）风险因素（RFs）对 V142I 变异携带者临床结局风险的影响尚不清楚：本研究旨在评估心血管风险因素对 V142I 基因变异携带者心衰风险的影响：本研究纳入了来自 6 个 TOPMed（Trans-Omics for Precision Medicine）队列、REGARDS（Reasons for Geographic And Racial Differences in Stroke）研究和 All of Us Research Program 的无流行性心衰的自认黑人。根据 V142I 基因型和 CV RFs（高血压、糖尿病、肥胖和高胆固醇血症）的数量对队列进行了分层。使用调整后的 Cox 模型评估心力衰竭与 V142I 基因型和心血管射频特征的关系，并以心血管射频特征良好的非携带者作为参照：横断面分析（包括 48 365 名黑人中的 1 625 名 V142I 携带者）发现，心血管射频的患病率并不因 V142I 携带者的身份而异。在纵向分析中，18 407 名黑人中有 587 名（3.2%）V142I 携带者（中位年龄：60 岁 [Q1-Q3：52-68 岁]，63.0% 为女性）。在携带者中，有利的（0 或 1 RF）CV RF 特征（调整后 HR：2.26；95% CI：1.58-3.23）与不利的（3 或 4 RFs）CV RF 特征（调整后 HR：4.14；95% CI：2.79-6.14）相比，心衰风险有所降低：结论：良好的心血管射频谱可降低但不能消除 V142I 变异相关的心力衰竭风险。这项研究强调了在 V142I 基因携带者中建立良好的心血管射频谱对降低心衰风险的重要性。
{"title":"Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers","authors":"Naman S. Shetty MD , Mokshad Gaonkar MS , Akhil Pampana MS , Nirav Patel MD, MSPH , Alanna C. Morrison PhD , Alexander P. Reiner MD, MSc , April P. Carson PhD , Bing Yu PhD , Bruce M. Psaty MD, PhD , Charles Kooperberg PhD , Diane Fatkin MD , Eric Boerwinkle PhD , Jerome I. Rotter MD , Kent D. Taylor PhD , Lifang Hou MD, PhD , Marguerite R. Irvin PhD , Michael E. Hall MD , Mathew Maurer MD , Myriam Fornage PhD , Nicole D. Armstrong PhD , Pankaj Arora MD","doi":"10.1016/j.jchf.2024.08.019","DOIUrl":"10.1016/j.jchf.2024.08.019","url":null,"abstract":"<div><h3>Background</h3><div>Nearly 3% to 4% of Black individuals in the United States carry the transthyretin V142I variant, which increases their risk of heart failure. However, the role of cardiovascular (CV) risk factors (RFs) in influencing the risk of clinical outcomes among V142I variant carriers is unknown.</div></div><div><h3>Objectives</h3><div>This study aimed to assess the impact of CV RFs on the risk of heart failure in V142I carriers.</div></div><div><h3>Methods</h3><div>This study included self-identified Black individuals without prevalent heart failure from 6 TOPMed (Trans-Omics for Precision Medicine) cohorts, the REGARDS (Reasons for Geographic And Racial Differences in Stroke) study, and the All of Us Research Program. The cohort was stratified based on the V142I genotype and the number of CV RFs (hypertension, diabetes, obesity, and hypercholesterolemia). Adjusted Cox models were used to assess the association of heart failure with the V142I genotype and CV RF profile, taking noncarriers with a favorable CV RF profile as reference.</div></div><div><h3>Results</h3><div>The cross-sectional analysis, including 1,625 V142I carriers among 48,365 Black individuals, found that the prevalence of CV RFs did not vary by V142I carrier status. In the longitudinal analysis, there were 587 (3.2%) V142I carriers among 18,407 Black individuals (median age: 60 years [Q1-Q3: 52-68 years], 63.0% female). Among carriers, the heart failure risk was attenuated with a favorable (0 or 1 RF) CV RF profile (adjusted HR: 2.26; 95% CI: 1.58-3.23) compared with an unfavorable (3 or 4 RFs) CV RF profile (adjusted HR: 4.14; 95% CI: 2.79-6.14).</div></div><div><h3>Conclusions</h3><div>A favorable CV RF profile lowers but does not abrogate V142I variant-associated heart failure risk. This study highlights the importance of having a favorable CV RF profile among V142I carriers for risk reduction of heart failure.</div></div>","PeriodicalId":14687,"journal":{"name":"JACC. Heart failure","volume":"13 1","pages":"Pages 91-101"},"PeriodicalIF":10.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142620740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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