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1.
Circulation ; 147(17): 1281-1290, 2023 04 25.
Artigo em Inglês | MEDLINE | ID: mdl-36938756

RESUMO

BACKGROUND: Managing disease risk among first-degree relatives of probands diagnosed with a heritable disease is central to precision medicine. A critical component is often clinical screening, which is particularly important for conditions like dilated cardiomyopathy (DCM) that remain asymptomatic until severe disease develops. Nonetheless, probands are frequently ill-equipped to disseminate genetic risk information that motivates at-risk relatives to complete recommended clinical screening. An easily implemented remedy for this key issue has been elusive. METHODS: The DCM Precision Medicine Study developed Family Heart Talk, a booklet designed to help probands with DCM communicate genetic risk and the need for cardiovascular screening to their relatives. The effectiveness of the Family Heart Talk booklet in increasing cardiovascular clinical screening uptake among first-degree relatives was assessed in a multicenter, open-label, cluster-randomized, controlled trial. The primary outcome measured in eligible first-degree relatives was completion of screening initiated within 12 months after proband enrollment. Because probands randomized to the intervention received the booklet at the enrollment visit, eligible first-degree relatives were limited to those who were alive the day after proband enrollment and not enrolled on the same day as the proband. RESULTS: Between June 2016 and March 2020, 1241 probands were randomized (1:1) to receive Family Heart Talk (n=621) or not (n=620) within strata defined by site and self-identified race/ethnicity (non-Hispanic Black, non-Hispanic White, or Hispanic). Final analyses included 550 families (n=2230 eligible first-degree relatives) in the Family Heart Talk arm and 561 (n=2416) in the control arm. A higher percentage of eligible first-degree relatives completed screening in the Family Heart Talk arm (19.5% versus 16.0%), and the odds of screening completion among these first-degree relatives were higher in the Family Heart Talk arm after adjustment for proband randomization stratum, sex, and age quartile (odds ratio, 1.30 [1-sided 95% CI, 1.08-∞]). A prespecified subgroup analysis did not find evidence of heterogeneity in the adjusted intervention odds ratio across race/ethnicity strata (P=0.90). CONCLUSIONS: Family Heart Talk, a booklet that can be provided to patients with DCM by clinicians with minimal additional time investment, was effective in increasing cardiovascular clinical screening among first-degree relatives of these patients. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT03037632.


Assuntos
Cardiomiopatia Dilatada , Humanos , Cardiomiopatia Dilatada/diagnóstico , Etnicidade , Família , Saúde da Família , Medição de Risco
2.
Circulation ; 148(11): 872-881, 2023 09 12.
Artigo em Inglês | MEDLINE | ID: mdl-37641966

RESUMO

BACKGROUND: Dilated cardiomyopathy (DCM) can lead to advanced disease, defined herein as necessitating a durable left ventricular assist device or a heart transplant (LVAD/HT). DCM is known to have a genetic basis, but the association of rare variant genetics with advanced DCM has not been studied. METHODS: We analyzed clinical and genetic sequence data from patients enrolled between 2016 and 2021 in the US multisite DCM Precision Medicine Study, which was a geographically diverse, multiracial, multiethnic cohort. Clinical evaluation included standardized patient interview and medical record query forms. DCM severity was classified into 3 groups: patients with advanced disease with LVAD/HT; patients with an implantable cardioverter defibrillator (ICD) only; or patients with no ICD or LVAD/HT. Rare variants in 36 DCM genes were classified as pathogenic or likely pathogenic or variants of uncertain significance. Confounding factors we considered included demographic characteristics, lifestyle factors, access to care, DCM duration, and comorbidities. Crude and adjusted associations between DCM severity and rare variant genetic findings were assessed using multinomial models with generalized logit link. RESULTS: Patients' mean (SD) age was 51.9 (13.6) years; 42% were of African ancestry, 56% were of European ancestry, and 44% were female. Of 1198 patients, 347 had LVAD/HT, 511 had an ICD, and 340 had no LVAD/HT or ICD. The percentage of patients with pathogenic or likely pathogenic variants was 26.2%, 15.9%, and 15.0% for those with LVAD/HT, ICD only, or neither, respectively. After controlling for sociodemographic characteristics and comorbidities, patients with DCM with LVAD/HT were more likely than those without LVAD/HT or ICD to have DCM-related pathogenic or likely pathogenic rare variants (odds ratio, 2.3 [95% CI, 1.5-3.6]). The association did not differ by ancestry. Rare variant genetic findings were similar between patients with DCM with an ICD and those without LVAD/HT or ICD. CONCLUSIONS: Advanced DCM was associated with higher odds of rare variants in DCM genes adjudicated as pathogenic or likely pathogenic, compared with individuals with less severe DCM. This finding may help assess the risk of outcomes in management of patients with DCM and their at-risk family members. REGISTRATION: URL: https://www. CLINICALTRIALS: gov; Unique identifier: NCT03037632.


Assuntos
Cardiomiopatia Dilatada , Medicina de Precisão , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , População Negra , Cardiomiopatia Dilatada/epidemiologia , Cardiomiopatia Dilatada/etnologia , Cardiomiopatia Dilatada/genética , Cardiomiopatia Dilatada/terapia , Desfibriladores Implantáveis , Avaliação de Medicamentos , Adulto , Idoso , Brancos , Negro ou Afro-Americano , Estados Unidos/epidemiologia
3.
J Gen Intern Med ; 38(11): 2445-2452, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37095330

RESUMO

BACKGROUND: End-stage liver disease (ESLD) and heart failure (HF) often coexist and are associated with significant morbidity and mortality. However, the true incidence of HF among patients with ESLD remains understudied. OBJECTIVE: This study aims to evaluate the association between ESLD and incident HF in a real-world clinical cohort. DESIGN AND PARTICIPANTS: A retrospective electronic health records database analysis of individuals with ESLD and frequency-matched controls without ESLD in a large integrated health system. MAIN MEASURES: The primary outcome was incident HF, which was defined by the International Classification of Disease codes and manually adjudicated by physician reviewers. The Kaplan-Meier method was used to estimate the cumulative incidence of HF. Multivariate proportional hazards models adjusted for shared metabolic factors (diabetes, hypertension, chronic kidney disease, coronary heart disease, body mass index) were used to compare the risk of HF in patients with and without ESLD. KEY RESULTS: Of 5004 patients (2502 with ESLD and 2502 without ESLD), the median (Q1-Q3) age was 57.0 (55.0-65.0) years, 59% were male, and 18% had diabetes. Over a median (Q1-Q3) follow-up of 2.3 (0.6-6.0) years, 121 incident HF cases occurred. Risk for incident HF was significantly higher for patients with ESLD compared with the non-ESLD group (adjusted HR: 4.67; 95% CI: 2.82-7.75; p < 0.001), with the majority of the ESLD group (70.7%) having HF with preserved ejection fraction (ejection fraction ≥ 50%). CONCLUSION: ESLD was significantly associated with a higher risk of incident HF, independent of shared metabolic risk factors, with the predominant phenotype being HF with preserved ejection fraction.


Assuntos
Prestação Integrada de Cuidados de Saúde , Doença Hepática Terminal , Insuficiência Cardíaca , Masculino , Humanos , Feminino , Volume Sistólico , Estudos Retrospectivos , Doença Hepática Terminal/epidemiologia , Fatores de Risco , Incidência
4.
JAMA ; 330(5): 432-441, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-37526719

RESUMO

Importance: Black patients with dilated cardiomyopathy (DCM) have increased familial risk and worse outcomes than White patients, but most DCM genetic data are from White patients. Objective: To compare the rare variant genetic architecture of DCM by genomic ancestry within a diverse population of patients with DCM. Design: Cross-sectional study enrolling patients with DCM who self-identified as non-Hispanic Black, Hispanic, or non-Hispanic White from June 7, 2016, to March 15, 2020, at 25 US advanced heart failure programs. Variants in 36 DCM genes were adjudicated as pathogenic, likely pathogenic, or of uncertain significance. Exposure: Presence of DCM. Main Outcomes and Measures: Variants in DCM genes classified as pathogenic/likely pathogenic/uncertain significance and clinically actionable (pathogenic/likely pathogenic). Results: A total of 505, 667, and 26 patients with DCM of predominantly African, European, or Native American genomic ancestry, respectively, were included. Compared with patients of European ancestry, a lower percentage of patients of African ancestry had clinically actionable variants (8.2% [95% CI, 5.2%-11.1%] vs 25.5% [95% CI, 21.3%-29.6%]), reflecting the lower odds of a clinically actionable variant for those with any pathogenic variant/likely pathogenic variant/variant of uncertain significance (odds ratio, 0.25 [95% CI, 0.17-0.37]). On average, patients of African ancestry had fewer clinically actionable variants in TTN (difference, -0.09 [95% CI, -0.14 to -0.05]) and other genes with predicted loss of function as a disease-causing mechanism (difference, -0.06 [95% CI, -0.11 to -0.02]). However, the number of pathogenic variants/likely pathogenic variants/variants of uncertain significance was more comparable between ancestry groups (difference, -0.07 [95% CI, -0.22 to 0.09]) due to a larger number of non-TTN non-predicted loss of function variants of uncertain significance, mostly missense, in patients of African ancestry (difference, 0.15 [95% CI, 0.00-0.30]). Published clinical case-based evidence supporting pathogenicity was less available for variants found only in patients of African ancestry (P < .001). Conclusion and Relevance: Patients of African ancestry with DCM were less likely to have clinically actionable variants in DCM genes than those of European ancestry due to differences in genetic architecture and a lack of representation of African ancestry in clinical data sets.


Assuntos
Indígena Americano ou Nativo do Alasca , População Negra , Cardiomiopatia Dilatada , Hispânico ou Latino , População Branca , Humanos , Indígena Americano ou Nativo do Alasca/genética , População Negra/genética , Cardiomiopatia Dilatada/etnologia , Cardiomiopatia Dilatada/genética , Estudos Transversais , Genômica , Hispânico ou Latino/genética , População Branca/genética
5.
J Cardiovasc Electrophysiol ; 33(8): 1944-1953, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35262243

RESUMO

Atrial fibrillation (AF) is the most common atrial arrhythmia and is subcategorized into numerous clinical phenotypes. Given its heterogeneity, investigations into the genetic mechanisms underlying AF have been pursued in recent decades, with predominant analyses focusing on early onset or lone AF. Linkage analyses, genome-wide association studies (GWAS), and single gene analyses have led to the identification of rare and common genetic variants associated with AF risk. Significant overlap with genetic variants implicated in dilated cardiomyopathy syndromes, including truncating variants of the sarcomere protein titin, have been identified through these analyses, in addition to other genes associated with cardiac structure and function. Despite this, widespread utilization of genetic testing in AF remains hindered by the unclear impact of genetic risk identification on clinical outcomes and the high prevalence of variants of unknown significance (VUS). However, genetic testing is a reasonable option for patients with early onset AF and in those with significant family history of arrhythmia. While many knowledge gaps remain, emerging data support genotyping to inform selection of AF therapeutics. In this review, we highlight the current understanding of the complex genetic basis of AF and explore the overlap of AF with inherited cardiomyopathy syndromes. We propose a set of criteria for clinical genetic testing in AF patients and outline future steps for the integration of genetics into AF care.


Assuntos
Fibrilação Atrial , Estudo de Associação Genômica Ampla , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/genética , Fibrilação Atrial/terapia , Predisposição Genética para Doença , Testes Genéticos , Humanos , Síndrome
6.
J Cardiovasc Nurs ; 37(3): 289-295, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34091567

RESUMO

BACKGROUND: Ventricular assist device simulation-based mastery learning (SBML) results in better patient and caregiver self-care skills compared with usual training. OBJECTIVE: The aim of this study was to evaluate the effect of SBML on driveline exit site infections. METHODS: We compared the probability of remaining infection free at 3 and 12 months between patients randomized to SBML or usual training. RESULTS: The SBML-training group had no infections at 3 months and 2 infections at 12 months, yielding a Kaplan-Meier estimate of the probability of remaining infection free of 0.857 (95% confidence interval [CI], 0.692-1.00) at 12 months. The usual-training group had 6 infections at 3 months with no additional infections by 12 months. Kaplan-Meier estimates of remaining infection free at 3 and 12 months were 0.878 (95% CI, 0.758-1.00) and 0.748 (95% CI, 0.591-0.946), respectively. Time-to-infection distributions for SBML versus usual training showed a difference in 12-month infection rates of 0.109 (P = .07). CONCLUSIONS: Ventricular assist device self-care SBML resulted in fewer 12-month infections.


Assuntos
Insuficiência Cardíaca , Coração Auxiliar , Infecções Relacionadas à Prótese , Insuficiência Cardíaca/terapia , Humanos , Projetos Piloto , Autocuidado
7.
JAMA ; 327(5): 454-463, 2022 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-35103767

RESUMO

Importance: Idiopathic dilated cardiomyopathy (DCM) aggregates in families, and early detection in at-risk family members can provide opportunity to initiate treatment prior to late-phase disease. Most studies have included only White patients, yet Black patients with DCM have higher risk of heart failure-related hospitalization and death. Objective: To estimate the prevalence of familial DCM among DCM probands and the age-specific cumulative risk of DCM in first-degree relatives across race and ethnicity groups. Design, Setting, and Participants: A family-based, cross-sectional study conducted by a multisite consortium of 25 US heart failure programs. Participants included patients with DCM (probands), defined as left ventricular systolic dysfunction and left ventricular enlargement after excluding usual clinical causes, and their first-degree relatives. Enrollment commenced June 7, 2016; proband and family member enrollment concluded March 15, 2020, and April 1, 2021, respectively. Exposures: The presence of DCM in a proband. Main Outcomes and Measures: Familial DCM defined by DCM in at least 1 first-degree relative; expanded familial DCM defined by the presence of DCM or either left ventricular enlargement or left ventricular systolic dysfunction without known cause in at least 1 first-degree relative. Results: The study enrolled 1220 probands (median age, 52.8 years [IQR, 42.4-61.8]; 43.8% female; 43.1% Black and 8.3% Hispanic) and screened 1693 first-degree relatives for DCM. A median of 28% (IQR, 0%-60%) of living first-degree relatives were screened per family. The crude prevalence of familial DCM among probands was 11.6% overall. The model-based estimate of the prevalence of familial DCM among probands at a typical US advanced heart failure program if all living first-degree relatives were screened was 29.7% (95% CI, 23.5% to 36.0%) overall. The estimated prevalence of familial DCM was higher in Black probands than in White probands (difference, 11.3% [95% CI, 1.9% to 20.8%]) but did not differ significantly between Hispanic probands and non-Hispanic probands (difference, -1.4% [95% CI, -15.9% to 13.1%]). The estimated prevalence of expanded familial DCM was 56.9% (95% CI, 50.8% to 63.0%) overall. Based on age-specific disease status at enrollment, estimated cumulative risks in first-degree relatives at a typical US advanced heart failure program reached 19% (95% CI, 13% to 24%) by age 80 years for DCM and 33% (95% CI, 27% to 40%) for expanded DCM inclusive of partial phenotypes. The DCM hazard was higher in first-degree relatives of non-Hispanic Black probands than non-Hispanic White probands (hazard ratio, 1.89 [95% CI, 1.26 to 2.83]). Conclusions and Relevance: In a US cross-sectional study, there was substantial estimated prevalence of familial DCM among probands and modeled cumulative risk of DCM among their first-degree relatives. Trial Registration: ClinicalTrials.gov Identifier: NCT03037632.


Assuntos
Cardiomiopatia Dilatada/epidemiologia , Saúde da Família/estatística & dados numéricos , Grupos Raciais/estatística & dados numéricos , Adulto , Fatores Etários , População Negra/estatística & dados numéricos , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/etnologia , Intervalos de Confiança , Estudos Transversais , Diagnóstico Precoce , Saúde da Família/etnologia , Feminino , Hispânico ou Latino/estatística & dados numéricos , Humanos , Hipertrofia Ventricular Esquerda/diagnóstico , Hipertrofia Ventricular Esquerda/epidemiologia , Hipertrofia Ventricular Esquerda/etnologia , Masculino , Pessoa de Meia-Idade , Prevalência , Grupos Raciais/etnologia , Risco , Estados Unidos/epidemiologia , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/epidemiologia , Disfunção Ventricular Esquerda/etnologia , População Branca/estatística & dados numéricos
8.
J Cardiovasc Electrophysiol ; 32(10): 2845-2853, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33993617

RESUMO

Atrial fibrillation (AF) is the most common arrhythmia among adults. While there have been incredible advances in the management of AF and its clinical sequelae, investigation of atrial cardiomyopathies (ACMs) is becoming increasingly more prominent. ACM refers to the electromechanical changes-appreciated subclinically and/or clinically-that underlie atrial dysfunction and create an environment ripe for the development of clinically apparent AF. There are several subtypes of ACM, distinguished by histologic features. Recent progress in cardiovascular imaging, including echocardiography with speckle-tracking (e.g., strain analysis), cardiovascular magnetic resonance imaging (CMR), and atrial 4-D flow CMR, has enabled increased recognition of ACM. Identification of ACM and its features carry clinical implications, including elevating a patient's risk for development of AF, as well as associations with outcomes related to catheter-based and surgical AF ablation. In this review, we explore the definition and classifications of ACM, its complex relationship with clinical AF, imaging modalities, and clinical implications. We propose next steps for a more unified approach to ACM recognition that can direct further research into this complex field.


Assuntos
Fibrilação Atrial , Cardiomiopatias , Ablação por Cateter , Adulto , Fibrilação Atrial/diagnóstico por imagem , Fibrilação Atrial/cirurgia , Cardiomiopatias/diagnóstico por imagem , Ecocardiografia , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/cirurgia , Humanos
9.
J Card Fail ; 27(5): 585-596, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33636331

RESUMO

Given recent advances in both pharmacologic and nonpharmacologic strategies for improving outcomes related to chronic systolic heart failure, heart failure with recovered ejection fraction (HFrecEF) is now recognized as a distinct clinical entity with increasing prevalence. In many patients who once had an indication for active implantable cardioverter-defibrillator (ICD) therapy, questions remain regarding the usefulness of this primary prevention strategy to protect against syncope and cardiac arrest after they have achieved myocardial recovery. Early, small studies provide convincing evidence for continued guideline-directed medical therapy (GDMT) in segments of the HFrecEF population to promote persistent left ventricular myocardial recovery. Retrospective data suggest that the risk of sudden cardiac death is lower, but still present, in HFrecEF as compared with HF with reduced ejection fraction, with reports of up to 5 appropriate ICD therapies delivered per 100 patient-years. The usefulness of continued ICD therapy is weighed against the unfavorable effects of this strategy, which include a cumulative risk of infection, inappropriate discharge, and patient-level anxiety. Historically, many surrogate measures for risk stratification have been explored, but few have demonstrated efficacy and widespread availability. We found that the available data to inform decisions surrounding the continued use of active ICD therapies in this population are incomplete, and more advanced tools such as genetic testing, evaluation of high-risk structural cardiomyopathies (such as noncompaction), and cardiac magnetic resonance imaging have emerged as vital in risk stratification. Clinicians and patients should engage in shared decision-making to evaluate the appropriateness of active ICD therapy for any given individual. In this article, we explore the definition of HFrecEF, data underlying continuation of guideline-directed medical therapy in patients who have achieved left ventricular ejection fraction recovery, the benefits and risks of active ICD therapy, and surrogate measures that may have a role in risk stratification.


Assuntos
Desfibriladores Implantáveis , Insuficiência Cardíaca , Morte Súbita Cardíaca/prevenção & controle , Insuficiência Cardíaca/terapia , Humanos , Prevenção Primária , Estudos Retrospectivos , Fatores de Risco , Volume Sistólico , Resultado do Tratamento , Função Ventricular Esquerda
10.
J Magn Reson Imaging ; 52(3): 920-929, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32061045

RESUMO

BACKGROUND: Magnetic resonance tissue phase mapping (TPM) measures three-directional myocardial velocities of the left and right ventricle (LV, RV). This noninvasive technique may supplement endomyocardial biopsy (EMB) in monitoring grafts post-heart transplantation (HTx). PURPOSE: To assess biventricular myocardial velocity alterations in grafts and investigate the relationship between velocities and acute cellular rejection (ACR) episodes. STUDY TYPE: Prospective. SUBJECTS: Twenty-seven patients within 1 year post-HTx (49 ± 13 years, 19 M) and 18 age-matched controls (49 ± 15 years, 12 M). FIELD STRENGTH/SEQUENCE: 1.5T, 2D balanced steady-state free precession, and TPM. ASSESSMENT: Ventricular function: end-diastolic and end-systolic volumes, stroke volumes, ejection fraction (EF), and myocardial mass. TPM velocities: peak-systolic and peak-diastolic velocities, cardiac twist, and interventricular dyssynchrony. ACR rejection episodes: International Society for Heart and Lung Transplantation grading of EMB specimens. STATISTICAL TESTS: The Lilliefors test for normality, unpaired t-tests, and Wilcoxon rank-sum tests for normally and nonnormally distributed data, respectively, were used, as well as multivariate regression for confounding variables and Pearson's correlation for associations between TPM velocities and global function. RESULTS: Compared to controls, HTx patients demonstrated reduced biventricular systolic longitudinal velocities (LV: 5.2 ± 2.1 vs. 4.0 ± 1.5 cm/s, P < 0.05; RV: 4.2 ± 1.3 vs. 3.1 ± 1.2 cm/s, P < 0.01). Correlation analysis revealed significant positive relationships for biventricular EF with radial peak velocities of the same ventricle in both systole and diastole (LV systole: r = 0.48, P < 0.01; LV diastole: r = 0.28, P < 0.05; RV systole: r = 0.35, P < 0.01; RV diastole: r = 0.36, P < 0.01). Segmentally, longitudinal velocities were impaired in 7/16 LV segments and 5/10 RV segments in systole and 7/10 RV segments in diastole. TPM analysis in studies with >4 preceding ACR episodes showed globally reduced RV and LV systolic radial velocity, and segmentally reduced radial and longitudinal systolic velocities. DATA CONCLUSION: Biventricular global and segmental velocities were reduced in HTx patients. Patients with >4 rejection episodes showed reduced myocardial velocities. The TPM sequence may add functional information for monitoring graft dysfunction. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY STAGE: 2 J. Magn. Reson. Imaging 2020;52:920-929.


Assuntos
Transplante de Coração , Disfunção Ventricular Esquerda , Adulto , Diástole , Ventrículos do Coração/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Miocárdio , Estudos Prospectivos , Sístole , Disfunção Ventricular Esquerda/diagnóstico por imagem
11.
J Cardiovasc Nurs ; 35(1): 54-65, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31738216

RESUMO

BACKGROUND: Patients who undergo ventricular assist device (VAD) implantation and their caregivers must rapidly learn a significant amount of self-care skills and knowledge. OBJECTIVE: The aim of this study was to explore patient, caregiver, VAD coordinator, and physician perspectives and perceptions of existing VAD self-care training to inform development of a simulation-based mastery learning (SBML) curriculum to teach patients and caregivers VAD self-care skills and knowledge. METHODS: We conducted semistructured, in-person interviews with patients with a VAD, their caregivers, VAD coordinators, and physicians (cardiac surgeons, an infectious disease physician, and advanced heart failure cardiologists). We used a 2-cycle team-based iterative inductive approach to coding and analysis. RESULTS: We interviewed 16 patients, 12 caregivers, 7 VAD coordinators, and 11 physicians. Seven major themes were derived from the interviews including (1) identification of critical curricular content, (2) need for standardization and assessment, (3) training modalities, (4) benefits of repetition, (5) piercing it all together, (6) need for refresher training, and (7) provision of training before implant. CONCLUSIONS: Findings from this study suggest that SBML is a natural fit for the high-risk tasks needed to save VAD self-care. The 7 unique training-related themes derived from the qualitative data informed the design and development of a VAD SBML self-care curriculum.


Assuntos
Insuficiência Cardíaca/terapia , Coração Auxiliar/estatística & dados numéricos , Educação de Pacientes como Assunto/organização & administração , Autogestão/métodos , Cuidadores/educação , Feminino , Insuficiência Cardíaca/psicologia , Coração Auxiliar/psicologia , Humanos , Masculino , Pesquisa Qualitativa , Qualidade de Vida , Autocuidado
12.
J Magn Reson Imaging ; 49(3): 678-687, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30142237

RESUMO

BACKGROUND: Following heart transplantation (Tx), recipients are closely monitored using endomyocardial biopsy, which is limited by cost and invasiveness, and echocardiography, which is limited regarding detailed structural and functional evaluation. PURPOSE: To test the feasibility of comprehensive structure-function cardiac MRI as a noninvasive modality to assess changes in myocardial structure and function. STUDY TYPE: Prospective. SUBJECTS: MR was performed in 61 heart transplant recipients (age 47.9 ± 16.3 years, 39% female) and 14 age-matched healthy controls (age 47.7 ± 16.7 years, 36% female). FIELD STRENGTH/SEQUENCE: 1.5T; 2D CINE steady state free precession (SSF)P imaging, T2 -mapping, pre- and postgadolinium contrast T1 -mapping, and tissue-phase mapping (TPM). ASSESSMENT: Quantification of myocardial T2 (as a measure of edema), pre- and post-Gd T1 (allowing calculation of extracellular volume (ECV) to estimate interstitial expansion), and TPM-based assessment of peak regional left ventricular (LV) velocities, dyssynchrony, and twist. STATISTICAL TESTS: Comparisons between transplant recipients and controls were performed using independent samples t-tests. Relationships between structural (T2 , T1 , ECV) and functional measures (myocardial velocities, dyssynchrony, twist) were assessed using Pearson correlation analysis. RESULTS: T2 and T1 were significantly elevated in transplant recipients compared to controls (global T2 : 50.5 ± 3.4 msec vs. 45.2 ± 2.3 msec, P < 0.01; global T1 : 1037.8 ± 48.0 msec vs. 993.8 ± 34.1 msec, P < 0.01). Systolic longitudinal function was impaired in transplant recipients compared to controls (reduced peak systolic longitudinal velocities, 2.9 ± 1.1 cm/s vs. 5.1 ± 1.2 cm/s, P < 0.01; elevated systolic longitudinal dyssynchrony, 60.2 ± 30.2 msec vs. 32.1 ± 25.1 msec, P < 0.01). Correlation analysis revealed a significant positive relationship between T2 and ECV (r = 0.45,P < 0.01). In addition, peak systolic longitudinal velocities demonstrated a significant inverse relationship with T2 (global r = -0.29, P = 0.02), and systolic radial dyssynchrony was positively associated with peak T2 and peak T1 (r = 0.26,P = 0.04; r = 0.27,P = 0.03). DATA CONCLUSION: MR techniques are sensitive to structural and functional differences in transplant recipients compared to controls. Structural (T2 , T1 ) and functional (peak myocardial velocities, dyssynchrony) measures were significantly associated, suggesting a structure-function relationship of cardiac abnormalities following heart transplant. LEVEL OF EVIDENCE: 2 Technical Efficacy Stage: 2 J. Magn. Reson. Imaging 2019;49:678-687.


Assuntos
Insuficiência Cardíaca/diagnóstico por imagem , Insuficiência Cardíaca/cirurgia , Transplante de Coração , Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Adulto , Biópsia , Estudos de Casos e Controles , Ecocardiografia , Feminino , Ventrículos do Coração/diagnóstico por imagem , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Estudos Prospectivos
13.
Circ Res ; 120(2): 332-340, 2017 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-27856497

RESUMO

RATIONALE: Potential benefits of mesenchymal stem cell (MSC) therapy in heart failure may be related to paracrine properties and systemic effects, including anti-inflammatory activities. If this hypothesis is valid, intravenous administration of MSCs should improve outcomes in heart failure, an entity in which excessive chronic inflammation may play a pivotal role. OBJECTIVE: To assess the safety and preliminary efficacy of intravenously administered ischemia-tolerant MSCs (itMSCs) in patients with nonischemic cardiomyopathy. METHODS AND RESULTS: This was a single-blind, placebo-controlled, crossover, randomized phase II-a trial of nonischemic cardiomyopathy patients with left ventricular ejection fraction ≤40% and absent hyperenhancement on cardiac magnetic resonance imaging. Patients were randomized to intravenously administered itMSCs (1.5×106 cells/kg) or placebo; at 90 days, each group received the alternative treatment. Overall, 22 patients were randomized to itMSC (n=10) and placebo (n=12) at baseline. After crossover, data were available for 22 itMSC patients. No major differences in death, hospitalization, or serious adverse events were noted between the 2 treatments. Change from baseline in left ventricular ejection fraction and ventricular volumes was not significantly different between therapies. Compared with placebo, itMSC therapy increased 6-minute walk distance (+36.47 m, 95% confidence interval 5.98-66.97; P=0.02) and improved Kansas City Cardiomyopathy clinical summary (+5.22, 95% confidence interval 0.70-9.74; P=0.02) and functional status scores (+5.65, 95% confidence interval -0.11 to 11.41; P=0.06). The data demonstrated MSC-induced immunomodulatory effects, the magnitude of which correlated with improvement in left ventricular ejection fraction. CONCLUSIONS: In this pilot study of patients with nonischemic cardiomyopathy, itMSC therapy was safe, caused immunomodulatory effects, and was associated with improvements in health status and functional capacity. CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT02467387.


Assuntos
Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Nível de Saúde , Transplante de Células-Tronco Mesenquimais/métodos , Adulto , Cardiomiopatias/sangue , Estudos Cross-Over , Feminino , Humanos , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Recuperação de Função Fisiológica/fisiologia , Método Simples-Cego , Transplante Homólogo/métodos , Resultado do Tratamento
15.
Curr Opin Cardiol ; 33(3): 354-362, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29561320

RESUMO

PURPOSE OF REVIEW: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine. HCM, DCM and ARVC are cardiomyopathies usually inherited in an autosomal dominant pattern. Over 1000 pathogenic mutations have been identified: HCM in genes encoding proteins of the sarcomere, and ARVC in genes encoding proteins of the desosome. DCM shows considerably more diverse ontology, suggesting more complex pathophysiology. In addition to allelic and locus heterogeneity, reduced penetrance and variable expressivity among affected individuals can make the clinical diagnosis of 'familial cardiomyopathy' less apparent. SUMMARY: Current evidence supports the use of genetic testing in clinical practice to improve risk stratification for clinically affected patients and their at-risk relatives for hypertrophic, arrhythmogenic, and dilated cardiomyopathies. Understanding how to implement genetic testing and to evaluate at-risk family members, provide clinical implications of results as well as discuss limitations of genetic testing is essential to improving personalized care.


Assuntos
Cardiomiopatias/genética , Estudos de Associação Genética/métodos , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Cardiomiopatias/diagnóstico , Humanos , Análise de Sequência de DNA
16.
Hepatology ; 62(3): 773-83, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25914296

RESUMO

UNLABELLED: Nonalcoholic fatty liver disease (NAFLD) and heart failure (HF) are obesity-related conditions with high cardiovascular mortality. Whether NAFLD is independently associated with subclinical myocardial remodeling or dysfunction among the general population is unknown. We performed a cross-sectional analysis of 2,713 participants from the multicenter, community-based Coronary Artery Risk Development in Young Adults (CARDIA) study who underwent concurrent computed tomography (CT) quantification of liver fat and comprehensive echocardiography with myocardial strain measured by speckle tracking during the Year-25 examination (age, 43-55 years; 58.8% female and 48.0% black). NAFLD was defined as liver attenuation ≤40 Hounsfield units after excluding other causes of liver fat. Subclinical left ventricular (LV) systolic dysfunction was defined using values of absolute peak global longitudinal strain (GLS). Diastolic dysfunction was defined using Doppler and tissue Doppler imaging markers. Prevalence of NAFLD was 10.0%. Participants with NAFLD had lower early diastolic relaxation (e') velocity (10.8 ± 2.6 vs. 11.9 ± 2.8 cm/s), higher LV filling pressure (E/e' ratio: 7.7 ± 2.6 vs. 7.0 ± 2.3), and worse absolute GLS (14.2 ± 2.4% vs. 15.2 ± 2.4%) than non-NAFLD (P < 0.0001 for all). When adjusted for HF risk factors or body mass index, NAFLD remained associated with subclinical myocardial remodeling and dysfunction (P < 0.01). The association of NAFLD with e' velocity (ß = -0.36 [standard error = 0.15] cm/s; P = 0.02), E/e' ratio (ß = 0.35 [0.16]; P = 0.03), and GLS (ß = -0.42 [0.18]%; P = 0.02) was attenuated after controlling for visceral adipose tissue. Effect modification by race and sex was not observed. CONCLUSIONS: NAFLD is independently associated with subclinical myocardial remodeling and dysfunction and provides further insight into a possible link between NAFLD and HF.


Assuntos
Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/epidemiologia , Remodelação Ventricular/fisiologia , Comorbidade , Estudos Transversais , Ecocardiografia Doppler , Feminino , Seguimentos , Humanos , Incidência , Modelos Logísticos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Valores de Referência , Medição de Risco , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios X/métodos
17.
NMR Biomed ; 29(10): 1454-63, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27593977

RESUMO

This study was conducted to improve the precision of arrhythmia-insensitive rapid (AIR) cardiac T1 mapping through pulse sequence optimization and then evaluate the intra-scan repeatability in patients at 3T against investigational modified Look-Locker inversion recovery (MOLLI) T1 mapping. In the first development phase (five human subjects), we implemented and tested centric-pair k-space ordering to suppress image artifacts associated with eddy currents. In the second development phase (15 human subjects), we determined optimal flip angles to reduce the measurement variation in T1 maps. In the validation phase (35 patients), we compared the intra-scan repeatability between investigational MOLLI and optimized AIR. In 23 cardiac planes, conventional centric k-space ordering (3.7%) produced significantly (p < 0.05) more outliers as a fraction of left ventricular cavity area than optimal centric k-space ordering (1.4%). In 15 human subjects, for each of four types of measurement (native myocardial T1 , native blood T1 , post-contrast myocardial T1 , post-contrast blood T1 ), flip angles of 55-65° produced lower measurement variation while producing results that are not significantly different from those produced with the previously used flip angle of 35° (p > 0.89, intra-class correlation coefficient ≥ 0.95 for all four measurement types). Compared with investigational MOLLI (coefficient of repeatability, CR = 40.0, 77.2, 26.5, and 25.9 ms for native myocardial, native blood, post-contrast myocardial, and post-contrast blood T1 , and 2.0% for extracellular volume (ECV) measurements, respectively), optimized AIR (CR = 54.3, 89.7, 30.5, and 14.7 ms for native myocardial, native blood, post-contrast myocardial, and post-contrast blood T1 , and 1.6% for ECV measurements, respectively) produced similar absolute intra-scan repeatability in all 35 patients in the validation phase. High repeatability is critically important for longitudinal studies, where the goal is to monitor physiologic/pathologic changes, not measurement variation. Optimized AIR cardiac T1 mapping is likely to yield high scan-retest repeatability for pre-clinical and clinical applications.


Assuntos
Técnicas de Imagem Cardíaca/métodos , Cardiopatias/diagnóstico por imagem , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Processamento de Sinais Assistido por Computador , Adulto , Algoritmos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade
20.
Prog Cardiovasc Dis ; 82: 102-112, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38244827

RESUMO

Left ventricular (LV) systolic dysfunction represents a highly treatable cause of heart failure (HF). A substantial proportion of patients with HF with reduced ejection fraction (EF;HFrEF) demonstrate improvement in LV systolic function (termed HF with improved EF [HFimpEF]), either spontaneously or when treated with guideline-directed medical therapy (GDMT). Although it is a relatively new HF classification, HFimpEF has emerged in recent years as an important and distinct clinical entity. Improvement in LVEF leads to decreased rates of mortality and adverse HF-related outcomes compared to patients with sustained LV systolic dysfunction (HFrEF). While numerous clinical and imaging factors have been associated with HFimpEF, identification of which patients do and do not improve requires further investigation. In addition, patients improve at different rates, and what determines the trajectory of HFimpEF patients after improvement is incompletely characterized. A proportion of patients maintain improvement in LV systolic function, while others experience a recrudescence of systolic dysfunction, especially with GDMT discontinuation. In this review we discuss the contemporary guideline-recommended classification definition of HFimpEF, the epidemiology of improvement in LV systolic function, and the clinical course of this unique patient population. We also offer evidence-based recommendations for the clinical management of HFimpEF and provide a roadmap for future directions in understanding and improving outcomes in the care of patients with HFimpEF.


Assuntos
Insuficiência Cardíaca , Disfunção Ventricular Esquerda , Humanos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/terapia , Volume Sistólico , Função Ventricular Esquerda , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/terapia , Ecocardiografia
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