Association Between Depression and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
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ABSTRACT:
SUBMITTER: Hu HL
PROVIDER: S-EPMC8174176 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Importance:Racial differences are recognized in multiple cardiovascular parameters, including left ventricular hypertrophy and heart failure, which are 2 major manifestations of hypertrophic cardiomyopathy. The association of race with disease expression and outcomes among patients with hypertrophic cardiomyopathy is not well characterized. Objective:To assess the association between race, disease expression, care provision, and clinical outcomes among patients with hypertrophic cardiomyopathy. Design, Setting, and Participants:This retrospective cohort study included data on black and white patients with hypertrophic cardiomyopathy from the US-based sites of the Sarcomeric Human Cardiomyopathy Registry from 1989 through 2018. Exposures:Self-identified race. Main Outcomes and Measures:Baseline characteristics; genetic architecture; adverse outcomes, including cardiac arrest, cardiac transplantation or left ventricular assist device implantation, implantable cardioverter-defibrillator therapy, all-cause mortality, atrial fibrillation, stroke, and New York Heart Association (NYHA) functional class III or IV heart failure; and septal reduction therapies. The overall composite outcome consists of the first occurrence of any component of the ventricular arrhythmic composite end point, cardiac transplantation, left ventricular assist device implantation, NYHA class III or IV heart failure, atrial fibrillation, stroke, or all-cause mortality. Results:Of 2467 patients with hypertrophic cardiomyopathy at the time of analysis, 205 (8.3%) were black (130 male [63.4%]; mean [SD] age, 40.0 [18.6] years) and 2262 (91.7%) were white (1351 male [59.7%]; mean [SD] age, 45.5 [20.5] years). Compared with white patients, black patients were younger at the time of diagnosis (mean [SD], 36.5 [18.2] vs 41.9 [20.2] years; P?<?.001), had higher prevalence of NYHA class III or IV heart failure at presentation (36 of 205 [22.6%] vs 174 of 2262 [15.8%]; P?=?.001), had lower rates of genetic testing (111 [54.1%] vs 1404 [62.1%]; P?=?.03), and were less likely to have sarcomeric mutations identified by genetic testing (29 [26.1%] vs 569 [40.5%]; P?=?.006). Implantation of implantable cardioverter-defibrillators did not vary by race; however, invasive septal reduction was less common among black patients (30 [14.6%] vs 521 [23.0%]; P?=?.007). Black patients had less incident atrial fibrillation (35 [17.1%] vs 608 [26.9%]; P?<?.001). Black race was associated with increased development of NYHA class III or IV heart failure (hazard ratio, 1.45; 95% CI, 1.08-1.94) which persisted on multivariable Cox proportional hazards regression (hazard ratio, 1.97; 95% CI, 1.34-2.88). There were no differences in the associations of race with stroke, ventricular arrhythmias, all-cause mortality, or the overall composite outcome. Conclusions and Relevance:The findings suggest that black patients with hypertrophic cardiomyopathy are diagnosed at a younger age, are less likely to carry a sarcomere mutation, have a higher burden of functionally limited heart failure, and experience inequities in care with lower use of invasive septal reduction therapy and genetic testing compared with white patients. Further study is needed to assess whether higher rates of heart failure may be associated with underlying ancestry-based disease pathways, clinical management, or structural inequities.
| S-EPMC6902181 | biostudies-literature
Project description:Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease with diversified clinical presentation and it is important to identify new predictors of clinical outcomes and survival in HCM patients. In our study, 206 HCM patients were compared with respect to major adverse cardiovascular and cerebrovascular events. By multivariable logistic analysis, we determined that palpitation, together with chronic heart failure (CHF) > 1 year, was an independent predictor of major adverse cardiovascular and cerebral events (MACCE) in HCM patients (OR 3.24, 95% CI 1.60-6.57, P = 0.001). Specially, palpitation was related to higher prevalence of rehospitalization (OR 3.86, 95% CI 2.08-7.08, P < 0.001), cardiac death (OR 2.96, 95% CI 1.05-8.32, P = 0.04) and heart failure exacerbation (OR 4.07, 95% CI 2.04-8.13, P < 0.001). However, patients presented with palpitation did not show a significantly different cardiac phenotype and function. Finally, palpitation predicted a poor prognosis in HCM patients without atrial fibrillation by utilizing Kaplan-Meier analysis (P = 0.041). In conclusion, palpitation could be a new predictor of clinical outcomes and overall survival in HCM patients.
| S-EPMC7483715 | biostudies-literature
Project description:AimsChildhood-onset hypertrophic cardiomyopathy (HCM) is far less common than adult-onset disease, thus natural history is not well characterized. We aim to describe the characteristics and outcomes of childhood-onset HCM.Methods and resultsWe performed an observational cohort study of 7677 HCM patients from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Hypertrophic cardiomyopathy patients were stratified by age at diagnosis [<1 year (infancy), 1-18 years (childhood), >18 years (adulthood)] and assessed for composite endpoints reflecting heart failure (HF), life-threatening ventricular arrhythmias, atrial fibrillation (AF), and an overall composite that also included stroke and death. Stratifying by age of diagnosis, 184 (2.4%) patients were diagnosed in infancy; 1128 (14.7%) in childhood; and 6365 (82.9%) in adulthood. Childhood-onset HCM patients had an ∼2%/year event rate for the overall composite endpoint, with ventricular arrhythmias representing the most common event in the 1st decade following baseline visit, but HF and AF becoming more common by the end of the 2nd decade. Sarcomeric variants were more common in childhood-onset HCM (63%) and carried a worse prognosis than non-sarcomeric disease, including a greater than two-fold increased risk of HF [HRadj 2.39 (1.36-4.20), P = 0.003] and 67% increased risk of the overall composite outcome [HRadj 1.67 (1.16-2.41), P = 0.006]. When compared with adult-onset HCM, childhood-onset was 36% more likely to develop life-threatening ventricular arrhythmias [HRadj 1.36 (1.03-1.80)] and twice as likely to require transplant or ventricular assist device [HRadj 1.99 (1.23-3.23)].ConclusionPatients with childhood-onset HCM are more likely to have sarcomeric disease, carry a higher risk of life-threatening ventricular arrythmias, and have greater need for advanced HF therapies. These findings provide insight into the natural history of disease and can help inform clinical risk stratification.
| S-EPMC8139852 | biostudies-literature
Project description:Background. No study has examined the effect of low serum uric acid (SUA) concentrations on mortality in hypertrophic cardiomyopathy (HCM) patients. The aim of the present study was to assess the relations between both low and high SUA concentrations and the risk of mortality across the full range of SUA concentrations in a retrospective cohort of HCM patients.Methods. A total of 454 HCM patients were enrolled in the study, and SUA concentrations were measured at baseline. The primary and secondary endpoints were all-cause mortality and HCM-related mortality, respectively. The associations between SUA concentrations and endpoints were analysed.Results. During a median follow-up of 3.8?years, there were 80 (17.6%) all-cause mortality events, and 52 of them (11.5%) were ascribed to HCM-related mortality. Patients with SUA concentrations of 250-350?µmol/L had the lowest all-cause mortality rate (11.8%) and HCM-related mortality rate (5.0%). Both low and high SUA concentrations were associated with increased all-cause and HCM-related mortality. Adjusted HRs were 2.52 (95% CI 1.13-5.61, p?=?0.024) and 4.86 (95% CI 1.74-13.58, p?=?0.003) for all-cause mortality and HCM-related mortality in the lowest SUA group (<250?µmol/L) when compared with the reference group (250-350?µmol/L), respectively. The corresponding HRs in the highest SUA group (?450?µmol/L) were 2.73 (95% CI 1.42-5.23, p?=?0.003) and 4.14 (95% CI 1.70-10.13, p?=?0.002), respectively.Conclusions. Both low and high SUA concentrations were significantly associated with increased risk of all-cause mortality and HCM-related mortality, which supported a U-shaped association between SUA concentrations and mortality in HCM patients.
| S-EPMC7054957 | biostudies-literature
Project description:There has been limited data addressing outcomes of extensive septal myectomy in Chinese patients with hypertrophic obstructive cardiomyopathy (HOCM). In this study, the objective was to evaluate the clinical and echocardiographic outcomes of extensive septal myectomy in a relative large number of Chinese HOCM patients over long-term follow-up.We retrospectively studied 139 consecutive HOCM patients (age 43 ± 15 years, 37 % male) who underwent extensive left ventricular septal myectomy. During the perioperative period, all patients were examined by echocardiography. All-cause death and cardiac death were considered as primary endpoints during follow-up. Perioperative data was obtained by retrospective review of institutional surgical databases. Follow-up data of echocardiography and clinical status was recorded through outpatient interview.Perioperative events consisted of arrhythmia, retraction injury to aortic valve leaflets, pleural effusion, and hemodialysis and the use of intra-aortic balloon pump. There was no in-hospital mortality. The follow-up period averaged 5.6 ± 0.9 years and overall survivals were 100.0, 99.3, 99.3, 98.5 and 97.8 % at 1, 2, 3, 4 and 5 years, respectively. Left ventricular outflow tract (LVOT) gradient decreased form preoperative 84 ± 17 mmHg to 12 ± 3 mmHg at 2.5 years after surgery and it further reduced to 6 ± 3 mmHg at 5 years after surgery (P < 0.05). Compared with the preoperative levels, interventricualr septal thickness decreased by 32 % while diastole left ventricular inner diameter approximately increased by 10 % and ejection fraction (EF) was significantly elevated during follow-up (P < 0.05). By echocardiography detection, mitral regurgitation was ameliorated for HOCM patients after surgery. There was significant improvement in New York Heart Association (NYHA) class. The proportion of NYHA III and IV decreased from preoperative 58 to 19 % at 2.5 years after surgery and it reduced to 11 % at 5 years after operation.Extensive septal myectomy offers minimal operative risk and provides long-term relief for LVOT obstruction in Chinese HOCM patients.
| S-EPMC4869192 | biostudies-other
Project description:Importance:Patients with hypertrophic cardiomyopathy (HCM) are prone to body weight increase and obesity. Whether this predisposes these individuals to long-term adverse outcomes is still unresolved. Objective:To describe the association of body mass index (BMI, calculated as weight in kilograms divided by height in meters squared) with long-term outcomes in patients with HCM in terms of overall disease progression, heart failure symptoms, and arrhythmias. Design, Setting, and Participants:In this cohort study, retrospective data were analyzed from the ongoing prospective Sarcomeric Human Cardiomyopathy Registry, an international database created by 8 high-volume HCM centers that includes more than 6000 patients who have been observed longitudinally for decades. Records from database inception up to the first quarter of 2018 were analyzed. Patients were divided into 3 groups according to BMI class (normal weight group, <25; preobesity group, 25-30; and obesity group, >30). Patients with 1 or more follow-up visits were included in the analysis. Data were analyzed from April to October 2018. Exposures:Association of baseline BMI with outcome was assessed. Main Outcome and Measures:Outcome was measured against overall and cardiovascular mortality, a heart failure outcome (ejection fraction less than 35%, New York Heart Association class III/IV symptoms, cardiac transplant, or assist device implantation), a ventricular arrhythmic outcome (sudden cardiac death, resuscitated cardiac arrest, or appropriate implantable cardioverter-defibrillator therapy), and an overall composite outcome (first occurrence of any component of the ventricular arrhythmic or heart failure composite end point, all-cause mortality, atrial fibrillation, or stroke). Results:Of the 3282 included patients, 2019 (61.5%) were male, and the mean (SD) age at diagnosis was 47 (15) years. These patients were observed for a median (interquartile range) of 6.8 (3.3-13.3) years. There were 962 patients in the normal weight group (29.3%), 1280 patients in the preobesity group (39.0%), and 1040 patients in the obesity group (31.7%). Patients with obesity were more symptomatic (New York Heart Association class of III/IV: normal weight, 87 [9.0%]; preobesity, 138 [10.8%]; obesity, 215 [20.7%]; P?<?.001) and more often had obstructive physiology (normal weight, 201 [20.9%]; preobesity, 327 [25.5%]; obesity, 337 [32.4%]; P?<?.001). At follow-up, obesity was independently associated with the HCM-related overall composite outcome (preobesity vs normal weight: hazard ratio [HR], 1.102; 95% CI, 0.920-1.322; P?=?.29; obesity vs normal weight: HR, 1.634; 95% CI, 1.332-1.919; P?<?.001) and the heart failure composite outcome (preobesity vs normal weight: HR, 1.192; 95% CI, 0.930-1.1530; P?=?.20; obesity vs normal weight: HR, 1.885; 95% CI, 1.485-2.393; P?<?.001) irrespective of age, sex, left atrium diameter, obstruction, and genetic status. Obesity increased the likelihood of atrial fibrillation but not of life-threatening ventricular arrhythmias. Conclusions and Relevance:Obesity is highly prevalent among patients with HCM and is associated with increased likelihood of obstructive physiology and adverse outcomes. Strategies aimed at preventing obesity and weight increase may play an important role in management and prevention of disease-related complications.
| S-EPMC6865784 | biostudies-literature
Project description:IntroductionSevere right ventricular hypertrophy (SRVH) is a rare phenotype in hypertrophic cardiomyopathy (HCM) for which limited information is available. This study was undertaken to investigate the clinical, prognostic and genetic characteristics of HCM patients with SRVH.MethodsHCM with SRVH was defined as HCM with a maximum right ventricular wall thickness ≥10 mm. Whole-genome sequencing (WGS) was performed in HCM patients with SRVH. Multivariate Cox proportional hazards regression models were used to identify risk factors for cardiac death and events in HCM with SRVH. Patients with apical hypertrophic cardiomyopathy (ApHCM) were selected as a comparison group. The clinical features and outcomes of 34 HCM patients with SRVH and 273 ApHCM patients were compared.ResultsCompared with the ApHCM group, the HCM with SRVH group included younger patients and a higher proportion of female patients and also displayed higher cardiovascular morbidity and mortality. The multivariate Cox proportional hazards regression models identified 2 independent predictors of cardiovascular death in HCM patients with SRVH, a New York Heart Association class ≥III (hazard ratio [HR] = 8.7, 95% confidence interval (CI): 1.43-52.87, p = 0.019) and an age at the time of HCM diagnosis ≤18 (HR = 5.5, 95% CI: 1.24-28.36, p = 0.026). Among the 11 HCM patients with SRVH who underwent WGS, 10 (90.9%) were identified as carriers of at least one specific sarcomere gene mutation. MYH7 and TTN mutations were the most common sarcomere mutations noted in this study. Two or more HCM-related gene mutations were observed in 9 (82%) patients, and mutations in either other cardiomyopathy-related genes or ion-channel disease-related genes were found in 8 (73%) patients.ConclusionsHCM patients with SRVH were characterized by poor clinical outcomes and the presentation of multiple gene mutations.
| S-EPMC5360271 | biostudies-literature
Project description:AimsThe interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry.Methods and results1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI), and clinical traits was analysed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene. The prevalence of HT, DM, and obesity (Ob) was 37, 10, and 21%, respectively. HT, DM, and Ob were associated with older age (P<0.001), less family history of HCM (HT and DM P<0.001), higher New York Heart Association (NYHA) class (P<0.001), atrial fibrillation (HT and DM P<0.001; Ob p = 0.03) and LV (left ventricular) diastolic dysfunction (HT and Ob P<0.001; DM P = 0.003). Stroke was more frequent in HT (P<0.001) and mutation-positive patients with DM (P = 0.02). HT and Ob were associated with higher provocable LV outflow tract gradients (HT P<0.001, Ob P = 0.036). LV hypertrophy was more severe in Ob (P = 0.018). HT and Ob were independently associated with NYHA class (OR 1.419, P = 0.017 and OR 1.584, P = 0.004, respectively). Other associations, including a higher proportion of females in HT and of systolic dysfunction in HT and Ob, were observed only in mutation-positive patients.ConclusionCommon CVRF are associated with a more severe HCM phenotype, suggesting a proactive management of CVRF should be promoted. An interaction between genotype and CVRF was observed for some traits.
| S-EPMC9745665 | biostudies-literature
Project description:Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease and defined by unexplained isolated progressive myocardial hypertrophy, systolic and diastolic ventricular dysfunction, arrhythmias, sudden cardiac death and histopathologic changes, such as myocyte disarray and myocardial fibrosis. Mutations in genes encoding for proteins of the contractile apparatus of the cardiomyocyte, such as ?-myosin heavy chain and myosin binding protein C, have been identified as cause of the disease. Disease is caused by altered biophysical properties of the cardiomyocyte, disturbed calcium handling, and abnormal cellular metabolism. Mutations in sarcomere genes can also activate other signaling pathways via transcriptional activation and can influence non-cardiac cells, such as fibroblasts. Additional environmental, genetic and epigenetic factors result in heterogeneous disease expression. The clinical course of the disease varies greatly with some patients presenting during childhood while others remain asymptomatic until late in life. Patients can present with either heart failure symptoms or the first symptom can be sudden death due to malignant ventricular arrhythmias. The morphological and pathological heterogeneity results in prognosis uncertainty and makes patient management challenging. Current standard therapeutic measures include the prevention of sudden death by prohibition of competitive sport participation and the implantation of cardioverter-defibrillators if indicated, as well as symptomatic heart failure therapies or cardiac transplantation. There exists no causal therapy for this monogenic autosomal-dominant inherited disorder, so that the focus of current management is on early identification of asymptomatic patients at risk through molecular diagnostic and clinical cascade screening of family members, optimal sudden death risk stratification, and timely initiation of preventative therapies to avoid disease progression to the irreversible adverse myocardial remodeling stage. Genetic diagnosis allowing identification of asymptomatic affected patients prior to clinical disease onset, new imaging technologies, and the establishment of international guidelines have optimized treatment and sudden death risk stratification lowering mortality dramatically within the last decade. However, a thorough understanding of underlying disease pathogenesis, regular clinical follow-up, family counseling, and preventative treatment is required to minimize morbidity and mortality of affected patients. This review summarizes current knowledge about molecular genetics and pathogenesis of HCM secondary to mutations in the sarcomere and provides an overview about current evidence and guidelines in clinical patient management. The overview will focus on clinical staging based on disease mechanism allowing timely initiation of preventative measures. An outlook about so far experimental treatments and potential for future therapies will be provided.
| S-EPMC6837941 | biostudies-literature
Project description:BackgroundPathogenic variants in MYBPC3, encoding cardiac MyBP-C (myosin binding protein C), are the most common cause of familial hypertrophic cardiomyopathy. A large number of unique MYBPC3 variants and relatively small genotyped hypertrophic cardiomyopathy cohorts have precluded detailed genotype-phenotype correlations.MethodsPatients with hypertrophic cardiomyopathy and MYBPC3 variants were identified from the Sarcomeric Human Cardiomyopathy Registry. Variant types and locations were analyzed, morphological severity was assessed, and time-event analysis was performed (composite clinical outcome of sudden death, class III/IV heart failure, left ventricular assist device/transplant, atrial fibrillation). For selected missense variants falling in enriched domains, myofilament localization and degradation rates were measured in vitro.ResultsAmong 4756 genotyped patients with hypertrophic cardiomyopathy in Sarcomeric Human Cardiomyopathy Registry, 1316 patients were identified with adjudicated pathogenic truncating (N=234 unique variants, 1047 patients) or nontruncating (N=22 unique variants, 191 patients) variants in MYBPC3. Truncating variants were evenly dispersed throughout the gene, and hypertrophy severity and outcomes were not associated with variant location (grouped by 5'-3' quartiles or by founder variant subgroup). Nontruncating pathogenic variants clustered in the C3, C6, and C10 domains (18 of 22, 82%, P<0.001 versus Genome Aggregation Database common variants) and were associated with similar hypertrophy severity and adverse event rates as observed with truncating variants. MyBP-C with variants in the C3, C6, and C10 domains was expressed in rat ventricular myocytes. C10 mutant MyBP-C failed to incorporate into myofilaments and degradation rates were accelerated by ≈90%, while C3 and C6 mutant MyBP-C incorporated normally with degradation rate similar to wild-type.ConclusionsTruncating variants account for 91% of MYBPC3 pathogenic variants and cause similar clinical severity and outcomes regardless of location, consistent with locus-independent loss-of-function. Nontruncating MYBPC3 pathogenic variants are regionally clustered, and a subset also cause loss of function through failure of myofilament incorporation and rapid degradation. Cardiac morphology and clinical outcomes are similar in patients with truncating versus nontruncating variants.
| S-EPMC7676622 | biostudies-literature