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1.
J Surg Res ; 300: 309-317, 2024 Aug.
Article in English | MEDLINE | ID: mdl-38838428

ABSTRACT

INTRODUCTION: Prior investigations assessing the impact of race/ethnicity on outcomes after mitral valve (MV) surgery have reported conflicting findings. This analysis aimed to examine the association between race/ethnicity and operative presentation and outcomes of patients undergoing MV and tricuspid valve (TV) surgery. METHODS: We retrospectively analyzed 5984 patients (2730 female, median age 63 y) who underwent MV (n = 4,534, 76%), TV (n = 474, 8%) or both MV and TV (n = 976, 16%) surgery in a statewide collaborative from 2012 to 2021. The influence of race/ethnicity on preoperative characteristics, MV and TV repair rates, and postoperative outcomes was assessed for White (n = 4,244, 71%), Black (n = 1,271, 21%), Hispanic (n = 144, 2%), Asian (n = 171, 3%), and mixed/other race (n = 154, 3%) patients. RESULTS: Black patients, compared to White patients, had higher Society of Thoracic Surgeons predicted risk of morbidity/mortality (24.5% versus 13.1%; P < 0.001) and more comorbid conditions. Compared to White patients, Black and Hispanic patients were less likely to undergo an elective procedure (White 71%, Black 55%, Hispanic 58%; P < 0.001). Degenerative MV disease was more prevalent in White patients (White 62%, Black 41%, Hispanic 43%, Asian 51%, mixed/other 45%; P < 0.05), while rheumatic disease was more prevalent in non-White patients (Asian 28%, Hispanic 26%, mixed/other 25%, Black 17%, White 10%;P < 0.05). After multivariable adjustment, repair rates and adverse postoperative outcomes, including mortality, did not differ by racial/ethnic group. CONCLUSIONS: Patient race/ethnicity is associated with a higher burden of comorbidities at operative presentation and MV disease etiology. Strategies to improve early detection of valvular heart disease and timely referral for surgery may improve outcomes.


Subject(s)
Mitral Valve , Tricuspid Valve , Adult , Aged , Female , Humans , Male , Middle Aged , Ethnicity , Healthcare Disparities/statistics & numerical data , Healthcare Disparities/ethnology , Heart Valve Diseases/surgery , Heart Valve Diseases/ethnology , Mitral Valve/surgery , Postoperative Complications/ethnology , Postoperative Complications/etiology , Retrospective Studies , Treatment Outcome , Tricuspid Valve/surgery , Black or African American , Asian , Hispanic or Latino , White
2.
J Cardiovasc Pharmacol ; 78(1): e105-e111, 2021 07 01.
Article in English | MEDLINE | ID: mdl-33958549

ABSTRACT

ABSTRACT: Warfarin is a commonly prescribed anticoagulant for valvular heart disease that plays an important role in clinical management to prevent thrombotic events. In this study, we aim to perform a comprehensive study to investigate the genetic biomarkers of stable warfarin dose in the Han Chinese population. We performed an integrative study on 211 Han Chinese patients with valvular heart disease. A total of 40 single nucleotide polymorphisms (SNPs) in 10 important genes (CYP2C9, VKORC1, ABCB1, CYP4F2, APOE, PROC, GGCX, EPHX1, CALU, and SETD1A) which are involved in the warfarin metabolic pathway and equilibrium of coagulation and anticoagulation were selected. We applied MassARRAY technology to genotype the 40 SNPs identified in these Han Chinese patients. Our results showed that 13 SNPs on 6 genes (CYP2C9, VKORC1, ABCB1, PROC, EPHX1, and SETD1A) were associated with the individual stable warfarin dose. Two VKORC1 SNPs (rs9934438 and rs2359612) were the strongest genetic factors determining warfarin dose requirements (P = 8 × 10-6 and 9 × 10-6, respectively). Rs4889599 in SETD1A was first reported to be associated with warfarin dose at a significant level of 0.001 in our study (Padjust = 0.040 after Bonferroni correction). We discovered that genetic variants in CYP2C9, VKORC1, ABCB1, PROC, EPHX1, and SETD1A may affect the stable warfarin dose requirement in Han Chinese patients with valvular disease. The discovery of these potential genetic markers will facilitate the development of advanced personalized anticoagulation therapy in Han Chinese patients.


Subject(s)
Anticoagulants/administration & dosage , Asian People/genetics , Heart Valve Diseases/surgery , Heart Valve Prosthesis Implantation , Pharmacogenomic Variants , Polymorphism, Single Nucleotide , Thromboembolism/prevention & control , Warfarin/administration & dosage , Adult , Aged , Anticoagulants/adverse effects , Anticoagulants/pharmacokinetics , China/epidemiology , Clinical Decision-Making , Female , Heart Valve Diseases/diagnosis , Heart Valve Diseases/ethnology , Heart Valve Prosthesis Implantation/adverse effects , Humans , Male , Middle Aged , Pharmacogenetics , Pharmacogenomic Testing , Predictive Value of Tests , Risk Factors , Thromboembolism/diagnosis , Thromboembolism/ethnology , Time Factors , Treatment Outcome , Warfarin/adverse effects , Warfarin/pharmacokinetics
3.
Scand J Med Sci Sports ; 31(5): 1078-1085, 2021 May.
Article in English | MEDLINE | ID: mdl-33421195

ABSTRACT

The value of echocardiography in the screening of athletes in addition to the electrocardiogram is debated and still unclear. 336 rugby players in French professional divisions (Top 14, Pro D2) were prospectively assessed with electrocardiogram and echocardiography. 75% were Caucasian, 16.4% Pacific Islanders, and 8.6% Afro-Caribbean. Six (1.8%) players had electrocardiogram abnormalities, exclusively negative T waves. Twenty-one (6.25%) of them had abnormal echocardiography findings: one possible early hypertrophic cardiomyopathy, one anomalous origin of coronary artery, two left ventricular dilatations, one isolated bicuspid aortic valve, two aortic regurgitations, and 14 ascending aortic dilatations. The median aortic diameter was modestly correlated with age: 32 mm [23-48] in players aged ≤25 years vs 33.5 mm [24-50] in those aged >25 years (P = 0.02, correlation coefficient -.01). This tendency increased with cumulative hours of weight training: 34 mm [24-50] in forwards vs 32 mm [25-44] in backs (P = 0.01); and ethnicity, with Pacific Islanders having higher values in both raw data and body surface area or height-indexed data than Afro-Caribbeans and Caucasians: 34 [25-50] vs 32 [27-48] and 33 [23-49] mm (P = 0.017); 15 [12.2-21] vs 14.8 [11-19.9] and 14.8 [10-20.9] mm/m2 (P < 0.0001); 18.5 [14-25] mm/m vs 17.4 [14.8-25] mm/m and 17.6 [12.2-25.3] mm/m (P = 0.0125). In a population of professional rugby players, echocardiography was contributive. The main anomaly was aortic dilatation (14/336, 4.2%). While this is proportionally much higher than in other sports, the cutoffs need to be defined more precisely by including the criterion of ethnicity, as is already the case for electrocardiography.


Subject(s)
Aorta/diagnostic imaging , Aorta/pathology , Dilatation, Pathologic/diagnostic imaging , Echocardiography , Football/physiology , Adult , Cardiomyopathy, Hypertrophic/diagnostic imaging , Cardiomyopathy, Hypertrophic/ethnology , Competitive Behavior/physiology , Coronary Vessel Anomalies/diagnostic imaging , Coronary Vessel Anomalies/ethnology , Dilatation, Pathologic/ethnology , Electrocardiography , France , Heart Valve Diseases/diagnostic imaging , Heart Valve Diseases/ethnology , Humans , Male , Prospective Studies , Resistance Training , Young Adult
4.
Eur Heart J ; 39(15): 1308-1313, 2018 04 14.
Article in English | MEDLINE | ID: mdl-29029058

ABSTRACT

Background: Transcatheter aortic valve replacement (TAVR) has been shown safe and feasible in patients with bicuspid aortic valve (BAV) morphology. Evaluation of inter-ethnic differences in valve morphology and function and aortic root dimensions in patients with BAV is important for the worldwide spread of this therapy in this subgroup of patients. Comparisons between large European and Asian cohorts of patients with BAV have not been performed, and potential differences between populations may have important implications for TAVR. Aim: The present study evaluated the differences in valve morphology and function and aortic root dimensions between two large cohorts of European and Asian patients with BAV. Methods and results: Aortic valve morphology was defined on transthoracic echocardiography according to the number of commissures and raphe: type 0 = no raphe and two commissures, type 1 = one raphe and two commissures, type 2 = two raphes and one commissure. Aortic stenosis and regurgitation were graded according to current recommendations. For this study, aortic root dimensions were manually measured on transthoracic echocardiograms at the level of the aortic annulus, sinus of Valsalva (SOV), sinotubular junction (STJ), and ascending aorta (AA). Of 1427 patients with BAV (45.2 ± 18.1 years, 71.9% men), 794 (55.6%) were Europeans and 633 (44.4%) were Asians. The groups were comparable in age and proportion of male sex. Asians had higher prevalence of type 1 BAV with raphe between right and non-coronary cusps than Europeans (19.7% vs. 13.6%, respectively; P < 0.001), whereas the Europeans had higher prevalence of type 0 BAV (two commissures, no raphe) than Asians (14.5% vs. 6.8%, respectively; P < 0.001). The prevalence of moderate and severe aortic regurgitation was higher in Europeans than Asians (44.2% vs. 26.8%, respectively; P < 0.001) whereas there were no differences in BAV with normal function or aortic stenosis. After adjusting for demographics, comorbidities, and valve function, the dimensions of the aortic annulus [mean difference 1.17 mm/m2, 95% confidence interval (CI) 0.96-1.39], SOV (mean difference 1.86 mm/m2, 95% CI 1.47-2.24), STJ (mean difference 0.52 mm/m2, 95% CI 0.14-0.90) and AA (mean difference 1.05 mm/m2, 95% CI 0.57-1.52) were significantly larger among Asians compared with Europeans. Conclusions: This large multicentre registry reports for the first time that Asians with BAV showed more frequently type 1 BAV (with fusion between right and non-coronary cusp) and have larger aortic dimensions than Europeans. These findings have important implications for prosthesis type and size selection for TAVR.


Subject(s)
Aortic Valve/abnormalities , Aortic Valve/anatomy & histology , Aortic Valve/pathology , Heart Valve Diseases/ethnology , Heart Valve Diseases/surgery , Adult , Aortic Valve/diagnostic imaging , Aortic Valve/surgery , Aortic Valve Insufficiency/epidemiology , Aortic Valve Insufficiency/ethnology , Aortic Valve Insufficiency/surgery , Aortic Valve Stenosis/epidemiology , Aortic Valve Stenosis/ethnology , Aortic Valve Stenosis/surgery , Asian People/ethnology , Bicuspid Aortic Valve Disease , Echocardiography/methods , Female , Humans , Male , Middle Aged , Prevalence , Retrospective Studies , Sinus of Valsalva/anatomy & histology , Sinus of Valsalva/diagnostic imaging , Transcatheter Aortic Valve Replacement/methods , White People/ethnology
5.
Environ Health ; 16(1): 133, 2017 Dec 21.
Article in English | MEDLINE | ID: mdl-29268751

ABSTRACT

BACKGROUND: Long-term exposure to high ambient air pollution has been associated with coronary artery calcium (CAC), a marker of cardiovascular disease (CVD). Calcifications of left-sided heart valves are also markers of CVD risk. We investigated whether air pollution was associated with valvular calcification and its progression. METHODS: We studied 6253 MESA participants aged 45-84 years who underwent two cardiac CT scans 2.5 years apart to quantify aortic valve calcium (AVC) and mitral annular calcium (MAC). CAC was included for the same timeframe for comparison with AVC/MAC. Ambient particulate matter <2.5 µm (PM2.5) and oxides of nitrogen (NOx) concentrations were predicted from residence-specific spatio-temporal models. RESULTS: The mean age (SD) of the study sample was 62 (10) years, 39% were white, 27% black, 22% Hispanic, and 12% Chinese. The prevalence of AVC and MAC at baseline were 13% and 9% respectively, compared to 50% prevalence of CAC. The adjusted prevalence ratios of AVC and MAC for each 5 µg/m3 higher PM2.5 was 1.19 (95% CI 0.87, 1.62) and 1.20 (0.81, 1.77) respectively, and for CAC was 1.14 (1.01, 1.27). Over 2.5 years, the mean change in Agatston units/year for each 5 µg/m3 higher PM2.5 concentration was 0.29 (-5.05, 5.63) for AVC and 4.38 (-9.13, 17.88) for MAC, compared to 8.66 (0.61, 16.71) for CAC. We found no significant associations of NOx with AVC and MAC. CONCLUSION: Our findings suggest a trend towards increased 2.5-year progression of MAC with exposure to outdoor PM2.5, although this association could not be confirmed. Additional well-powered studies with longer periods of follow-up are needed to further study associations of air pollution with valvular calcium. TRIAL REGISTRATION: Although MESA is not a clinical trial, this cohort is registered at ClinicalTrials.gov Identifier: NCT00005487; Date of registration May 25, 2000.


Subject(s)
Air Pollutants/adverse effects , Air Pollution/adverse effects , Calcinosis/etiology , Environmental Exposure/adverse effects , Heart Valve Diseases/etiology , Mitral Valve/drug effects , Particulate Matter/adverse effects , Aged , Aged, 80 and over , Air Pollutants/analysis , Air Pollution/analysis , Aortic Valve/diagnostic imaging , Aortic Valve/drug effects , Atherosclerosis , Calcinosis/diagnostic imaging , Calcinosis/ethnology , Environmental Exposure/analysis , Female , Heart Valve Diseases/diagnostic imaging , Heart Valve Diseases/ethnology , Hispanic or Latino , Humans , Male , Middle Aged , Mitral Valve/diagnostic imaging , Nitrogen Oxides/analysis , Particulate Matter/analysis , Racial Groups , Tomography, X-Ray Computed
6.
N Engl J Med ; 368(6): 503-12, 2013 Feb 07.
Article in English | MEDLINE | ID: mdl-23388002

ABSTRACT

BACKGROUND: Limited information is available regarding genetic contributions to valvular calcification, which is an important precursor of clinical valve disease. METHODS: We determined genomewide associations with the presence of aortic-valve calcification (among 6942 participants) and mitral annular calcification (among 3795 participants), as detected by computed tomographic (CT) scanning; the study population for this analysis included persons of white European ancestry from three cohorts participating in the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium (discovery population). Findings were replicated in independent cohorts of persons with either CT-detected valvular calcification or clinical aortic stenosis. RESULTS: One SNP in the lipoprotein(a) (LPA) locus (rs10455872) reached genomewide significance for the presence of aortic-valve calcification (odds ratio per allele, 2.05; P=9.0×10(-10)), a finding that was replicated in additional white European, African-American, and Hispanic-American cohorts (P<0.05 for all comparisons). Genetically determined Lp(a) levels, as predicted by LPA genotype, were also associated with aortic-valve calcification, supporting a causal role for Lp(a). In prospective analyses, LPA genotype was associated with incident aortic stenosis (hazard ratio per allele, 1.68; 95% confidence interval [CI], 1.32 to 2.15) and aortic-valve replacement (hazard ratio, 1.54; 95% CI, 1.05 to 2.27) in a large Swedish cohort; the association with incident aortic stenosis was also replicated in an independent Danish cohort. Two SNPs (rs17659543 and rs13415097) near the proinflammatory gene IL1F9 achieved genomewide significance for mitral annular calcification (P=1.5×10(-8) and P=1.8×10(-8), respectively), but the findings were not replicated consistently. CONCLUSIONS: Genetic variation in the LPA locus, mediated by Lp(a) levels, is associated with aortic-valve calcification across multiple ethnic groups and with incident clinical aortic stenosis. (Funded by the National Heart, Lung, and Blood Institute and others.).


Subject(s)
Aortic Valve Stenosis/genetics , Aortic Valve/pathology , Calcinosis/genetics , Heart Valve Diseases/genetics , Lipoprotein(a)/genetics , Polymorphism, Single Nucleotide , Aged , Aortic Valve/diagnostic imaging , Aortic Valve Stenosis/diagnostic imaging , Aortic Valve Stenosis/ethnology , Female , Genome-Wide Association Study , Heart Valve Diseases/diagnostic imaging , Heart Valve Diseases/ethnology , Humans , Linear Models , Male , Mendelian Randomization Analysis , Middle Aged , Mitral Valve/diagnostic imaging , Mitral Valve/pathology , Tomography, X-Ray Computed
7.
Catheter Cardiovasc Interv ; 85 Suppl 1: 752-61, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25630494

ABSTRACT

OBJECTIVES: We sought to describe the morphological characteristics of aortic valve disease in a Chinese population presenting for transcatheter aortic valve replacement (TAVR). BACKGROUND: Racial and regional differences are known to exist in aortic stenosis (AS), but limited data exist comparing the specific anatomical variations between populations. METHODS: Patients were prospectively evaluated in a Chinese population presenting for TAVR in the Venus A-Valve trial, the first trial evaluating TAVR in China. A systematic anatomical assessment protocol employed contrast-enhanced computed tomography (CT) in all the cases. RESULTS: A total of 120 consecutive patients were studied. Of these, 61 (50.7%) were patients with tricuspid, 57 (47.5%) bicuspid, and 2 (1.7%) unicuspid valve morphologies. Of the 57 cases with bicuspid valve, 31 (54.4%) had no raphe (Sievers classification, type 0) and 26 (45.6%) were of raphe type. Although the incidence of bicuspid valve morphology was more than a third in the northern Chinese population, this was lower than the eastern Chinese population (P = 0.035), in whom the incidence was more than half. A comparison of tricuspid morphologies in China versus a Western series of 229 consecutive patients undergoing TAVR assessed with CT showed a threefold excess of leaflet calcium burden in China, with a leaflet calcium volume of 421 mm(3) (IQR, 188-688 mm(3) ) versus 142 mm(3) (IQR, 58-267 mm(3) ). CONCLUSIONS: Patients presenting for TAVR in China have a very high frequency of bicuspid valve morphology. Even in tricuspid disease, there are clear differences to Western patients, with a high calcium burden, which presents challenges for TAVR in this population (ClinicalTrials.gov NCT01683474).


Subject(s)
Aortic Valve Stenosis/diagnostic imaging , Aortic Valve Stenosis/therapy , Aortic Valve/abnormalities , Cardiac Catheterization , Heart Valve Diseases/diagnostic imaging , Heart Valve Prosthesis Implantation/methods , Multidetector Computed Tomography , Aged , Aged, 80 and over , Aortic Valve/diagnostic imaging , Aortic Valve Stenosis/ethnology , Asian People , Bicuspid Aortic Valve Disease , China/epidemiology , Female , Heart Valve Diseases/ethnology , Humans , Incidence , Male , Predictive Value of Tests , Prevalence , Prospective Studies , Severity of Illness Index
8.
BMC Cardiovasc Disord ; 15: 103, 2015 Sep 23.
Article in English | MEDLINE | ID: mdl-26399240

ABSTRACT

BACKGROUND: Globally, rheumatic heart disease (RHD) remains an important cause of heart disease. In Australia it particularly affects younger Indigenous and older non-Indigenous Australians. Despite its impact there is limited understanding of the factors influencing outcome following surgery for RHD. METHODS: The Australian and New Zealand Society of Cardiac and Thoracic Surgeons Cardiac Surgery Database was analysed to assess outcomes following surgical procedures for RHD and non-RHD valvular disease. The association with demographics, co-morbidities, pre-operative status, valve(s) affected and operative procedure was evaluated. RESULTS: Outcome of 1384 RHD and 15843 non-RHD valve procedures was analysed. RHD patients had longer ventilation, experienced fewer strokes and had more readmissions to hospital and anticoagulant complications. Mortality following RHD surgery at 30 days was 3.1% (95% CI 2.2 - 4.3), 5 years 15.3% (11.7 - 19.5) and 10 years 25.0% (10.7 - 44.9). Mortality following non-RHD surgery at 30 days was 4.3% (95% CI 3.9 - 4.6), 5 years 17.6% (16.4 - 18.9) and 10 years 39.4% (33.0 - 46.1). Factors independently associated with poorer longer term survival following RHD surgery included older age (OR1.03/additional year, 95% CI 1.01 - 1.05), concomitant diabetes (OR 1.7, 95% CI 1.1 - 2.5) and chronic kidney disease (1.9, 1.2 - 2.9), longer invasive ventilation time (OR 1.7 if greater than median value, 1.1- 2.9) and prolonged stay in hospital (1.02/additional day, 1.01 - 1.03). Survival in Indigenous Australians was comparable to that seen in non-Indigenous Australians. CONCLUSION: In a large prospective cohort study we have demonstrated survival following RHD valve surgery in Australia is comparable to earlier studies. Patients with diabetes and chronic kidney disease, were at particular risk of poorer long-term survival. Unlike earlier studies we did not find pre-existing atrial fibrillation, being an Indigenous Australian or the nature of the underlying valve lesion were independent predictors of survival.


Subject(s)
Cardiac Surgical Procedures , Heart Valve Diseases/surgery , Heart Valves/surgery , Rheumatic Heart Disease/surgery , Age Factors , Aged , Australia/epidemiology , Cardiac Surgical Procedures/adverse effects , Cardiac Surgical Procedures/mortality , Chi-Square Distribution , Comorbidity , Databases, Factual , Female , Heart Valve Diseases/diagnosis , Heart Valve Diseases/ethnology , Heart Valve Diseases/mortality , Humans , Kaplan-Meier Estimate , Linear Models , Logistic Models , Male , Middle Aged , Multivariate Analysis , Odds Ratio , Patient Readmission , Prospective Studies , Respiration, Artificial , Rheumatic Heart Disease/diagnosis , Rheumatic Heart Disease/ethnology , Rheumatic Heart Disease/mortality , Risk Assessment , Risk Factors , Stroke/mortality , Time Factors , Treatment Outcome
10.
BMC Cardiovasc Disord ; 14: 134, 2014 Oct 02.
Article in English | MEDLINE | ID: mdl-25274483

ABSTRACT

BACKGROUND: Globally, rheumatic heart disease (RHD) remains an important cause of heart disease. In Australia it particularly affects older non-Indigenous Australians and Aboriginal Australians and/or Torres Strait Islander peoples. Factors associated with the choice of treatment for advanced RHD remain variable and poorly understood. METHODS: The Australian and New Zealand Society of Cardiac and Thoracic Surgeons Cardiac Surgery Database was analysed. Demographics, co-morbidities, pre-operative status and valve(s) affected were collated and associations with management assessed. RESULTS: Surgical management of 1384 RHD and 15843 non-RHD valve procedures was analysed. RHD patients were younger, more likely to be female and Indigenous Australian, to have atrial fibrillation (AF) and previous percutaneous balloon valvuloplasty (PBV). Surgery was performed on one valve in 64.5%, two valves in 30.0% and three valves in 5.5%. Factors associated with receipt of mechanical valves in RHD were AF (OR 2.69) and previous PBV (OR 1.98) and valve surgery (OR 3.12). Predictors of valve repair included being Indigenous (OR 3.84) and having fewer valves requiring surgery (OR 0.10). Overall there was a significant increase in the use of mitral bioprosthetic valves over time. CONCLUSIONS: RHD valve surgery is more common in young, female and Indigenous patients. The use of bioprosthetic valves in RHD is increasing. Given many patients are female and younger, the choice of valve surgery and need for anticoagulation has implications for future management of RHD and related morbidity, pregnancy and lifestyle plans.


Subject(s)
Heart Valve Diseases/surgery , Heart Valve Prosthesis Implantation , Rheumatic Heart Disease/surgery , Age Factors , Aged , Anticoagulants/therapeutic use , Australia/epidemiology , Bioprosthesis , Comorbidity , Databases, Factual , Female , Heart Valve Diseases/diagnosis , Heart Valve Diseases/ethnology , Heart Valve Prosthesis , Heart Valve Prosthesis Implantation/adverse effects , Heart Valve Prosthesis Implantation/instrumentation , Humans , Male , Middle Aged , Native Hawaiian or Other Pacific Islander , Patient Selection , Prosthesis Design , Rheumatic Heart Disease/diagnosis , Rheumatic Heart Disease/ethnology , Risk Assessment , Risk Factors , Sex Factors , Time Factors , Treatment Outcome
11.
BMC Med Genet ; 14: 44, 2013 Apr 11.
Article in English | MEDLINE | ID: mdl-23578328

ABSTRACT

BACKGROUND: The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). METHODS: All the coding exons including adjacent intronic as well as 5' and 3' untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members. RESULTS: Two novel mutations, a missense and a nonsense mutation (Exon 5, p.P284L; Exon 26, p.Y1619X), were found in the NOTCH1 gene in two unrelated families. The mutations segregated with the disease in these families, and they were not found on 200 unrelated chromosomes from ethnically matched controls. No pathogenetic mutation was identified in GATA5, TGFBR1 and TGFBR2 genes. CONCLUSIONS: Two novel NOTCH1 mutations were identified in two Italian families with BAV, highlighting the role of a NOTCH1 signaling pathway in BAV and its aortic complications. These findings are of relevance for genetic counseling and clinical care of families presenting with BAV. Future studies are needed in order to unravel the still largely unknown genetics of BAV.


Subject(s)
GATA5 Transcription Factor/genetics , Germ-Line Mutation , Heart Valve Diseases/genetics , Protein Serine-Threonine Kinases/genetics , Receptor, Notch1/genetics , Receptors, Transforming Growth Factor beta/genetics , 3' Untranslated Regions , 5' Untranslated Regions , Adolescent , Adult , Aged , Aortic Valve/abnormalities , Bicuspid Aortic Valve Disease , Case-Control Studies , Chromosomes, Human/genetics , Codon, Nonsense/genetics , DNA Mutational Analysis/methods , Exons , Female , Genetic Variation , Genetics, Population/methods , Heart Valve Diseases/ethnology , Humans , Italy/epidemiology , Male , Middle Aged , Mutation, Missense , Pedigree , Receptor, Transforming Growth Factor-beta Type I , Receptor, Transforming Growth Factor-beta Type II , Signal Transduction , Young Adult
12.
Heart Surg Forum ; 14(4): E221-6, 2011 Aug.
Article in English | MEDLINE | ID: mdl-21859639

ABSTRACT

BACKGROUND: Racial disparity with respect to mitral valve (MV) surgery has been documented; however, previous reports have been limited by small numbers, focus on patients undergoing MV replacement only, or comparison of African-American patients to white patients. Using more recent data from the largest all-payer database in the United States, we examined whether type of mitral procedure performed was influenced by race and whether racial differences exist in baseline characteristics and short-term outcomes of patients undergoing mitral repair or replacement for MV disease. METHODS: Using the 2005-2007 National Inpatient Sample (NIS) Database, we identified patients ≥ 30 years of age who underwent MV repair or replacement, excluding ischemic and congenital MV disease. Patients were stratified into 4 racial groups: whites, African-Americans, Hispanics, and others. The 4 groups were compared with respect to baseline characteristics, type of MV procedure (repair versus replacement), and short-term outcomes. RESULTS: Non-whites comprised 22.3% (7818 out of 35,074) of the patients and were generally younger, more often on Medicaid and from urban locations, and more often presented on an urgent/emergent basis. African-Americans and Hispanics tended to be less affluent and have a higher Charlson comorbidity index. MV repair was performed in 45.8% of the patients overall. The racial groups differed significantly with respect to the proportion of patients receiving repair. Hispanics were 2 times more likely to have MV replacement compared to whites (odds ratio [OR] = 2.06, 95% confidence interval [CI] = 1.52-2.80, P = .0001), and African-Americans were more than 1.5 times more likely to have replacement compared to whites (OR = 1.69, 95% CI = 1.35-2.11). Following adjustment for baseline characteristics, there was no difference with respect to race for in-hospital mortality or likelihood of repair, but differences between groups persisted for length of stay and discharge location. African-Americans and Hispanics were more likely than whites to have a prolonged hospitalization. CONCLUSIONS: African-Americans and Hispanics present for MV surgery with worse preoperative profiles and undergo mitral repair less often compared to whites. Although in-hospital mortality was not influenced by race, African-Americans and Hispanics had a more protracted hospital course even following adjustment. The disparity in mitral procedure selection among racial groups was present only prior to adjustment for important baseline characteristics. Nevertheless, this racial difference reflects current reality in surgical practice and identifies an important area for future improvement in the care of patients with valvular heart disease.


Subject(s)
Heart Valve Diseases/ethnology , Heart Valve Prosthesis , Mitral Valve/surgery , Patient Selection , Racial Groups , Aged , Female , Follow-Up Studies , Heart Valve Diseases/surgery , Hospital Mortality/ethnology , Hospital Mortality/trends , Humans , Male , Middle Aged , Odds Ratio , Retrospective Studies , Risk Factors , Socioeconomic Factors , Time Factors , Treatment Outcome , United States/epidemiology
13.
J Am Coll Cardiol ; 78(24): 2493-2504, 2021 12 14.
Article in English | MEDLINE | ID: mdl-34886971

ABSTRACT

Valvular heart disease (VHD) is a major global public health problem. Many regions of the world continue to grapple with the adverse consequences of untreated rheumatic heart disease, a condition that is largely preventable with timely access to diagnosis and treatment. In turn, middle- and high-income countries have experienced a rise in the prevalence of calcific aortic and mitral disease, owing in part to population aging. This public health problem is further compounded by high rates of infective endocarditis, which is associated with substantial morbidity and mortality. Yet, considerations of race and ethnicity have not taken center stage in VHD research. This is despite evidence of major health care disparities in socioeconomic and medical risk factors, access to diagnosis, and provision of appropriate treatment. In this paper, the authors review differences in the etiology, diagnosis, and treatment of VHD within the context of race, ethnicity, and health care disparities.


Subject(s)
Ethnicity , Heart Valve Diseases/ethnology , Periodicals as Topic , Racial Groups , Global Health , Humans , Incidence , Prevalence , Risk Factors
14.
J Cardiovasc Comput Tomogr ; 15(2): 154-160, 2021.
Article in English | MEDLINE | ID: mdl-32620506

ABSTRACT

BACKGROUND: Lipoprotein (a) [Lp(a)] is a risk factor for coronary heart disease and calcific aortic valve disease. We determined the relationships of Lp(a) with prevalence and progression of coronary artery calcification (CAC), mitral annular calcification (MAC), and thoracic aortic calcification (TAC) in a multi-ethnic cohort of middle to older-aged adults. METHODS: This analysis included 6705 Multi-Ethnic Study of Atherosclerosis participants. Lp(a) was measured with a turbidimetric immunoassay. CAC, MAC, and TAC were assessed by cardiac computed tomography both at baseline and once during follow-up. RESULTS: In adjusted relative risk regression cross-sectional analysis, a Lp(a) level ≥50 â€‹mg/dL was associated with a 22% higher prevalence of MAC (relative risk (RR) â€‹= â€‹1.22, 95% confidence interval (CI) 1.00, 1.49). No significant associations were observed for prevalent CAC or TAC. In adjusted prospective analyses, participants with Lp(a) ≥50 â€‹mg/dL were at significantly higher risk for rapid CAC progression (median follow-up â€‹= â€‹8.9 years), defined as ≥100 units/year, compared to those with lower Lp(a) levels (RR â€‹= â€‹1.67, 95% CI â€‹= â€‹1.23, 2.27). The association between higher Lp(a) levels and incident CHD was no longer significant after adjusting for CAC progression. No significant associations were observed for MAC or TAC progression (median follow-up â€‹= â€‹2.6 years). CONCLUSIONS: Higher Lp(a) levels are associated with more rapid CAC progression. Additional study is needed to better understand how this relationship can further improve the ability of Lp(a) to enhance cardiovascular disease risk prediction.


Subject(s)
Aorta, Thoracic , Aortic Diseases/blood , Calcinosis/blood , Coronary Artery Disease/blood , Heart Valve Diseases/blood , Lipoprotein(a)/blood , Mitral Valve , Vascular Calcification/blood , Aged , Aged, 80 and over , Aorta, Thoracic/diagnostic imaging , Aortic Diseases/diagnostic imaging , Aortic Diseases/ethnology , Biomarkers/blood , Calcinosis/diagnostic imaging , Calcinosis/ethnology , Coronary Artery Disease/diagnostic imaging , Coronary Artery Disease/ethnology , Cross-Sectional Studies , Female , Heart Valve Diseases/diagnostic imaging , Heart Valve Diseases/ethnology , Humans , Incidence , Male , Middle Aged , Mitral Valve/diagnostic imaging , Prevalence , Prognosis , Prospective Studies , Risk Assessment , Risk Factors , Time Factors , United States/epidemiology , Vascular Calcification/diagnostic imaging , Vascular Calcification/ethnology
15.
Am Heart J ; 159(4): 698-704, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20362732

ABSTRACT

BACKGROUND: Prior studies suggest that the causes of calcific aortic valve (AV) disease involve chronic inflammation, lipoprotein levels, and calcium metabolism, all of which may differ among race-ethnic groups. We sought to determine whether AV thickness differs by race-ethnicity in a large multiethnic population-based cohort. METHODS: The Northern Manhattan Study includes stroke-free community-based Hispanic (57%), non-Hispanic black (22%), and non-Hispanic white (21%) participants. The relation between AV thickness on transthoracic echocardiography and clinical risk factors for atherosclerosis was evaluated among 2,085 participants using polytomous logistic regression models. Aortic valve thickness was graded in 3 categories (normal, mild, and moderate/severe) based on leaflet thickening and calcification. RESULTS: Mild AV thickness was present in 44.4% and moderate/severe thickness in 5.7% of the cohort, with the lowest frequency of moderate/severe thickness seen particularly among Hispanic women. In multivariate models adjusting for age, sex, race-ethnicity, body mass index, hypertension, coronary artery disease, blood glucose, and high-density lipoprotein cholesterol, Hispanics had significantly less moderate/severe AV thickness (odds ratio 0.43, 95% CI 0.25-0.73) than non-Hispanic whites. Men were almost 2-fold as likely to have moderate/severe AV thickness compared with women (odds ratio 1.96, 95% CI 1.24-3.10). CONCLUSIONS: In this large multiethnic population-based cohort, there were ethnic differences in the degree of AV thickness. Hispanic ethnicity was strongly protective against AV thickness. This effect was not related to traditional risk factors, suggesting that unmeasured factors related to Hispanic ethnicity and AV thickness may be responsible.


Subject(s)
Aortic Valve/diagnostic imaging , Calcinosis/diagnostic imaging , Calcinosis/ethnology , Heart Valve Diseases/diagnostic imaging , Heart Valve Diseases/ethnology , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Risk Assessment , Risk Factors , Ultrasonography
16.
J Heart Valve Dis ; 19(6): 684-91, 2010 Nov.
Article in English | MEDLINE | ID: mdl-21214090

ABSTRACT

BACKGROUND AND AIM OF THE STUDY: Risk models of cardiac valve surgery using a large database are useful for improving surgical quality. In order to obtain accurate, high-quality assessments of surgical outcome, each geographic area should maintain its own database. The study aim was to collect Japanese data and to prepare a risk stratification of cardiac valve procedures, using the Japan Adult Cardiovascular Surgery Database (JACVSD). METHODS: A total of 6562 valve procedure records from 97 participating sites throughout Japan was analyzed, using a data entry form with 255 variables that was sent to the JACVSD office from a web-based data collection system. The statistical model was constructed using multiple logistic regression. Model discrimination was tested using the area under the receiver operating characteristic curve (C-index). The model calibration was tested using the Hosmer-Lemeshow (H-L) test. RESULTS: Among 6562 operated cases, 15% had diabetes mellitus, 5% were urgent, and 12% involved preoperative renal failure. The observed 30-day and operative mortality rates were 2.9% and 4.0%, respectively. Significant variables with high odds ratios included emergent or salvage status (3.83), reoperation (3.43), and left ventricular dysfunction (3.01). The H-L test and C-index values for 30-day mortality were satisfactory (0.44 and 0.80, respectively). CONCLUSION: The results obtained in Japan were at least as good as those reported elsewhere. The performance of this risk model also matched that of the STS National Adult Cardiac Database and the European Society Database.


Subject(s)
Asian People/statistics & numerical data , Health Status Indicators , Heart Valve Diseases/surgery , Heart Valve Prosthesis Implantation/adverse effects , Models, Statistical , Outcome and Process Assessment, Health Care/statistics & numerical data , Quality Indicators, Health Care/statistics & numerical data , Aged , Comorbidity , Databases as Topic , Female , Heart Valve Diseases/ethnology , Heart Valve Diseases/mortality , Heart Valve Prosthesis Implantation/mortality , Hospitals/statistics & numerical data , Humans , Internet , Japan , Logistic Models , Male , Middle Aged , Odds Ratio , ROC Curve , Reproducibility of Results , Risk Assessment , Risk Factors , Treatment Outcome
17.
Heart Lung Circ ; 19(5-6): 295-8, 2010.
Article in English | MEDLINE | ID: mdl-20356787

ABSTRACT

BACKGROUND: Acute rheumatic fever, leading to rheumatic heart disease (RHD), is rare in Australia except amongst Aboriginal and Torres Strait Islander people. METHODS: Cardiac surgical procedures performed at Flinders Medical Centre on patients from the Top End of the Northern Territory from 1993 to 2008 were reviewed. This study compared Indigenous and non-Indigenous patients on short term morbidity and long term survival employing logistic regression and Cox proportional hazard models. We also outline the challenges of managing Aboriginal patients, as our unit services vast areas of northern Australia inhabited by Indigenous people. RESULTS: The total number of patients from the Northern Territory was 835. Amongst the Indigenous patients, there were 235 (55.6%) isolated coronary artery bypass graft procedures, 171 (40.4%) patients underwent isolated valvular surgery (91 mitral and 80 aortic), and 17 (4.0%) underwent combined valvular surgery with coronary artery bypass graft surgery. CONCLUSIONS: Aboriginal patients requiring valve surgery are younger and have greater comorbidity than non-Aboriginal people. Short term surgical results are similar to non-Aboriginal people but long term outcomes appear to be inferior. Age and socioeconomic conditions of Indigenous patients need to be considered. Cultural issues should be understood and acknowledged and surgery better focused around surgical units with appropriate infrastructure.


Subject(s)
Cardiac Surgical Procedures/mortality , Cardiac Surgical Procedures/methods , Cause of Death , Native Hawaiian or Other Pacific Islander/statistics & numerical data , Rheumatic Heart Disease/mortality , Rheumatic Heart Disease/surgery , Adult , Age Factors , Aged , Australia , Chi-Square Distribution , Cohort Studies , Female , Follow-Up Studies , Heart Valve Diseases/diagnosis , Heart Valve Diseases/ethnology , Heart Valve Diseases/mortality , Heart Valve Diseases/surgery , Heart Valve Prosthesis Implantation/methods , Heart Valve Prosthesis Implantation/mortality , Humans , Logistic Models , Male , Middle Aged , Population Groups , Postoperative Complications/mortality , Postoperative Complications/physiopathology , Probability , Proportional Hazards Models , Retrospective Studies , Rheumatic Fever/complications , Rheumatic Fever/diagnosis , Rheumatic Heart Disease/ethnology , Rheumatic Heart Disease/etiology , Risk Assessment , Sex Factors , Statistics, Nonparametric , Survival Analysis , Treatment Outcome
18.
Mayo Clin Proc ; 94(8): 1488-1498, 2019 08.
Article in English | MEDLINE | ID: mdl-31279542

ABSTRACT

OBJECTIVE: To explore the burden and clinical correlates of valvular heart disease in Hispanics/Latinos in the United States. PATIENTS AND METHODS: A total of 1818 individuals from the population-based study of Latinos/Hispanics from 4 US metropolitan areas (Bronx, New York; Chicago, Illinois; San Diego, California; and Miami, Florida) underwent a comprehensive clinical and echocardiographic examination from October 1, 2011, through June 24, 2014. Logistic regression analysis was used to examine the associations of clinical and sociodemographic variables with valvular lesions. RESULTS: The mean age was 55.2±0.2 years; 57.4% were female. The prevalence of any valvular heart disease (AVHD) was 3.1%, with no considerable differences across sex, and a higher prevalence with increasing age. The proportion of US-born vs foreign-born individuals was similar in those with vs without AVHD (P=.31). The weighted prevalence of AVHD was highest in Central Americans (8.4%) and lowest in Mexicans (1.2%). Regurgitant lesions of moderate or greater severity were present in 2.4% of the population and stenotic lesions of moderate or greater severity in 0.2%. Compared with those without AVHD, individuals with AVHD were more likely to have health insurance coverage (59.6% vs 79.2%; P=.007) but similar income (P=.06) and educational status (P=.46). Univariate regression models revealed that regurgitant lesions were associated with lower body mass index whereas stenotic lesions were associated with higher body mass index. CONCLUSION: Our data provide the first population-based estimates of the prevalence of valvular heart disease in Hispanic/Latinos. Valvular heart disease is fairly common in the Hispanic/Latino population and may constitute an important public health problem.


Subject(s)
Cost of Illness , Echocardiography/methods , Heart Valve Diseases/diagnostic imaging , Heart Valve Diseases/ethnology , Hispanic or Latino/statistics & numerical data , Adult , Age Distribution , Aged , Cohort Studies , Female , Follow-Up Studies , Heart Valve Diseases/physiopathology , Humans , Male , Middle Aged , Prevalence , Retrospective Studies , Risk Assessment , Severity of Illness Index , Sex Distribution , United States , Urban Population
19.
ESC Heart Fail ; 6(5): 1005-1014, 2019 10.
Article in English | MEDLINE | ID: mdl-31318170

ABSTRACT

AIMS: The risk of HeartMate II (HMII) left ventricular assist device (LVAD) thrombosis has been reported, and serum lactate dehydrogenase (LDH), a biomarker of haemolysis, increases secondary to LVAD thrombosis. This study evaluated longitudinal measurements of LDH post-LVAD implantation, hypothesizing that LDH trends could timely predict future LVAD thrombosis. METHODS AND RESULTS: From October 2004 to October 2014, 350 HMIIs were implanted in 323 patients at Cleveland Clinic. Of these, patients on 339 HMIIs had at least one post-implant LDH value (7996 total measurements). A two-step joint model combining longitudinal biomarker data and pump thrombosis events was generated to assess the effect of changing LDH on thrombosis risk. Device-specific LDH trends were first smoothed using multivariate boosted trees, and then used as a time-varying covariate function in a multiphase hazard model to analyse time to thrombosis. Pre-implant variables associated with time-varying LDH values post-implant using boostmtree were also investigated. Standardized variable importance for each variable was estimated as the difference between model-based prediction error of LDH when the variable was randomly permuted and prediction error without permuting the values. The larger this difference, the more important a variable is for predicting the trajectory of post-implant LDH. Thirty-five HMIIs (10%) had either confirmed (18) or suspected (17) thrombosis, with 15 (43%) occurring within 3 months of implant. LDH was associated with thrombosis occurring both early and late after implant (P < 0.0001 for both hazard phases). The model demonstrated increased probability of HMII thrombosis as LDH trended upward, with steep changes in LDH trajectory paralleling trajectories in probability of pump thrombosis. The most important baseline variables predictive of the longitudinal pattern of LDH were higher bilirubin, higher pre-implant LDH, and older age. The effect of some pre-implant variables such as sodium on the post-implant LDH longitudinal pattern differed across time. CONCLUSIONS: Longitudinal trends in surveillance LDH for patients on HMII support are useful for dynamic prediction of pump thrombosis, both early after implant and late. Incorporating upward and downward trends in LDH that dynamically update a model of LVAD thrombosis risk provides a useful tool for clinical management and decisions.


Subject(s)
Heart Valve Diseases/surgery , Heart-Assist Devices/adverse effects , L-Lactate Dehydrogenase/blood , Myocardial Ischemia/surgery , Thrombosis/etiology , Adult , Aged , Bilirubin/blood , Biomarkers/blood , Case-Control Studies , Female , Heart Valve Diseases/ethnology , Heart-Assist Devices/statistics & numerical data , Hemolysis/physiology , Humans , Iatrogenic Disease/epidemiology , Iatrogenic Disease/prevention & control , Intention to Treat Analysis/trends , Male , Middle Aged , Myocardial Ischemia/ethnology , Predictive Value of Tests , Retrospective Studies
20.
Ethn Dis ; 18(3): 306-10, 2008.
Article in English | MEDLINE | ID: mdl-18785444

ABSTRACT

OBJECTIVES: This study analyzed the differences in clinical presentation, etiology, and hospital outcome between Hispanic and non-Hispanic patients who underwent surgical correction of mitral valve disease at a large urban medical center. DESIGN: All adult patients undergoing isolated mitral valve repair or replacement surgery at two hospitals between 1993 and 2003 were studied. Patients were grouped according to ethnicity as reported to the New York State Cardiac Surgery Reporting System. Preoperative variables compared included age, congestive heart failure (CHF), etiology, and pertinent medical and surgical histories, while perioperative variables included type of operation, mortality, and hospital complications. RESULTS: A total of 1683 patients (135 Hispanic,1548 non-Hispanic) underwent mitral valve surgery. Hispanic patients were younger (48.3+/-16.0 vs 59.7+/-15.9 years, P<.001) and had higher incidences of CHF (48.9% vs 35.3%, P=.002), endocarditis (8.9% vs 5.0%, P=.05), and rheumatic disease (12.6% vs 5.4%, P<.001). Non-Hispanic patients had a higher incidence of degenerative disease (68.0% vs 54.8%, P<.01). No differences in hospital mortality (Hispanic 5.9% vs 5.3%, P=.76) or perioperative complications were observed between the two groups, although Hispanic patients were less likely to undergo mitral valve repair than mitral valve replacement (35.6% vs 61.2%, P<.001). CONCLUSIONS: In the urban population studied, Hispanic patients presented for mitral valve surgery at a younger age and with a higher prevalence of CHF and rheumatic disease. Public health strategies to prevent rheumatic fever among Hispanics are needed, and improved screening might facilitate earlier referral for Hispanic patients, increasing the potential for benefitting from mitral valve repair.


Subject(s)
Heart Valve Diseases/ethnology , Heart Valve Diseases/surgery , Hispanic or Latino/statistics & numerical data , Mitral Valve , Adult , Age Factors , Aged , Cohort Studies , Female , Heart Valve Diseases/etiology , Heart Valve Prosthesis Implantation/statistics & numerical data , Hospital Mortality/ethnology , Humans , Male , Middle Aged , Retrospective Studies , Risk Factors , Treatment Outcome
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