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Atrial fibrosis is central to the pathology of heart failure (HF) and atrial fibrillation (AF). Identifying precise mechanisms underlying atrial fibrosis will provide effective strategies for clinical intervention. This study investigates a metabolic serine threonine kinase gene, sucrose non-fermenting related kinase (SNRK), that we previously reported to control cardiac metabolism and function. Conditional knockout of Snrk in mouse cardiomyocytes ( Snrk cmcKO) leads to atrial fibrosis and subsequently HF. The precise mechanism underlying cardiomyocyte SNRK-driven repression of fibrosis is not known. Here, using mouse, rat, and human tissues, we demonstrate that SNRK expression is high in atria, especially in atrial cardiomyocytes. SNRK expression correlates with lower levels of pro-fibrotic protein transforming growth factor-beta 1 (TGFß1) in the atrial cardiomyocytes. In HL-1 adult immortalized mouse atrial cells, using siRNA approaches, we show that Snrk knockdown cells show more TGFß1 secretion, which was also observed in heart lysates from Snrk cardiac-specific knockout mice in vivo. These effects were exacerbated upon infusion of Angiotensin II. Results from Snrk knockdown cardiomyocytes co-cultured with cardiac fibroblasts suggest that SNRK represses TGFß1 signaling (Smad 2/3) in atrial CMs and prevents paracrine cardiac fibroblast activation (α-SMA marker). In conclusion, high SNRK expression in atria regulates cardiac homeostasis, by preventing the release of TGFß1 secretion to block cardiac fibrosis. These studies will assist in developing heart chamber-specific fibrosis therapy for non-ischemic HF and AF.
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BACKGROUND: Optimal systolic blood pressure (SBP) targets for the treatment of hospitalized acute decompensated heart failure (ADHF) patients are not known. OBJECTIVES: To investigate the association between SBP <130 mmHg at discharge or within 30 days and all-cause mortality or years of life lost (YLL) after ADHF hospitalization. METHODS: We analyzed medical records of 14,611 adults who survived ADHF hospitalization at 17 hospitals (2010-2022) with follow-up until May 2023. Sensitivity analysis included 10,515 patients with post-discharge SBP measured within 30 days. RESULTS: Mortality rates at 30 days, 180 days, 1 year, and 3 years were higher in patients with discharge SBP <130 mmHg (6.9 %, 21.1 %, 29.1 %, and 45.1 %) vs. SBP ≥130 mmHg (4.8 %, 16.0 %, 23.6 %, and 40.3 %). Hazard ratios (HR) for mortality were consistently higher in patients with discharge SBP <130 at 1.30 (95 % CI, 1.11-1.52), 1.45 (95 % CI, 1.33-1.58), 1.40 (95 % CI, 1.30-1.51), 1.31 (95 % CI, 1.23-1.38) at these intervals. The average YLL per deceased individual was 1-2 years greater in the discharge SBP <130 group (incidence rate ratios, 1.004 to 1.230). Restricted cubic spline analysis showed that HR for mortality shifted toward better outcomes at discharge SBP ≥130 Sensitivity analysis supported these findings. CONCLUSION: In hospitalized ADHF patients, SBP <130 mmHg at discharge or within 30 days post-discharge was linked to higher mortality and YLL, while SBP ≥130 mmHg or improvement to ≥130 mmHg post-discharge led to better short and long-term outcomes. Further research is needed to understand the mechanisms and benefits of SBP optimization.
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Hypertrophic cardiomyopathy is the most common inherited cardiac disease, exhibiting diverse phenotypes. Obstructive hypertrophic cardiomyopathy occurs in about two-thirds of cases and carries a worse prognosis. Mavacamten use in heart transplant recipients is limited. This paper reports a recipient who developed severe symptomatic obstructive hypertrophic cardiomyopathy phenotype/phenocopy and was initiated on mavacamten.
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BACKGROUND: Perclose ProGlide (PPG) Suture-Mediated Closure System™ is safe and can reduce time to hemostasis following procedures requiring arterial access. AIMS: We aimed to compare PPG to figure of 8 suture in patients who underwent interventional catheter procedures requiring large bore venous access (LBVA) (≥13 French). METHODS: In this physician-initiated, randomized, single-center study [clinicaltrials.gov ID: NCT04632641], single-stick venous access was obtained under ultrasound guidance. Eligible patients were randomized 1:1, and 100 subjects received allocated treatment to either PPG (n = 47) or figure of 8 suture (n = 53). No femoral arterial access was used in any patient. Primary outcomes were time to achieve hemostasis (TTH) and time to ambulation (TTA). Secondary outcomes were time to discharge (TTD) and vascular-related complications and mortality. Wilcoxon rank-sum test was used to compare TTH, TTA, and TTD. RESULTS: TTH (minutes) was significantly lower in PPG versus figure of 8 suture [median, (Q1, Q3)] [7 (2,10) vs. 11 (10,15) respectively, p < 0.001]. TTA (minutes) was significantly lower in PPG compared to figure of 8 suture [322 (246,452) vs. 403 (353, 633) respectively, p = 0.005]. TTD (minutes) was not significantly different between the PPG and figure of 8 suture arms [1257 (1081, 1544) vs. 1338 (1171,1435), p = 0.650]. There was no difference in minor bleeding or access site hematomas between both arms. No other vascular complications or mortality were reported. CONCLUSION: PPG use had lower TTH and TTA than figure of 8 suture in a population of patients receiving LBVA procedures. This may encourage same-day discharge in these patients.
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Cateterismo Periférico , Hemorragia , Técnicas Hemostáticas , Punções , Técnicas de Sutura , Dispositivos de Oclusão Vascular , Humanos , Masculino , Feminino , Estudos Prospectivos , Técnicas de Sutura/efeitos adversos , Técnicas de Sutura/instrumentação , Resultado do Tratamento , Fatores de Tempo , Pessoa de Meia-Idade , Idoso , Técnicas Hemostáticas/instrumentação , Técnicas Hemostáticas/efeitos adversos , Hemorragia/etiologia , Hemorragia/prevenção & controle , Cateterismo Periférico/efeitos adversos , Desenho de Equipamento , Fatores de Risco , Ultrassonografia de Intervenção , Tempo de InternaçãoRESUMO
Life-threatening dysrhythmias remain a significant cause of mortality in patients with nonischemic cardiomyopathy (NICM). Implantable cardioverter-defibrillators (ICD) effectively reduce mortality in patients who have survived a life-threatening arrhythmic event. The evidence for survival benefit of primary prevention ICD for patients with high-risk NICM on guideline-directed medical therapy is not as robust, with efficacy questioned by recent studies. In this review, we summarize the data on the risk of life-threatening arrhythmias in NICM, the recommendations, and the evidence supporting the efficacy of primary prevention ICD, and highlight tools that may improve the identification of patients who could benefit from primary prevention ICD implantation.
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Cardiomiopatias , Tomada de Decisão Clínica , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Humanos , Cardiomiopatias/terapia , Morte Súbita Cardíaca/prevenção & controle , Morte Súbita Cardíaca/etiologia , Prevenção Primária/métodos , Arritmias Cardíacas/terapiaRESUMO
AIMS: In clinical trials, mavacamten reduced left ventricular outflow tract obstruction (LVOTO) and improved symptoms in patients with symptomatic obstructive hypertrophic cardiomyopathy (oHCM). We aimed to share our real-world experience with the efficacy and safety of mavacamten in this patient population. METHODS AND RESULTS: This retrospective, single-centre study included patients with symptomatic oHCM from March 2023 to November 2023. Inclusion criteria were oHCM, age >18 years, significant LVOTO (gradient >50 mmHg at rest or with Valsalva), New York Heart Association (NYHA) class ≥II despite maximally tolerated medical therapy, and left ventricular ejection fraction (LVEF) >55%. Patients were evaluated by echocardiography, NYHA class, electrocardiography and Holter monitor on each monthly visit for 3 months. A total of 31 patients were included in this study. The mean (SD) age was 58 (16.5) years, and 14 (45%) were female. Mean provoked left ventricular outflow tract gradient (LVOTG) reduced by -49.4 mmHg (P < 0.001) at 4 weeks, -59.2 mmHg (P < 0.001) at 8 weeks, and -60.8 mmHg (P < 0.001) at 12 weeks. Twenty-six of the 31 patients (83.8%) achieved an LVOTG ≤30 mmHg at Week 12. No major side effects were reported. Sixty-seven percent experienced ≥2 NYHA class improvements, LVEF remained above 55% and no dose titration was made. CONCLUSIONS: Our real-world experience aligns with established mavacamten trial outcomes. Continuous vigilance and longitudinal investigations are needed to further assess potential long-term impacts.
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BACKGROUND: We aimed to elucidate clinical implications of genetic variant interpretation in assessing disease severity and progression in thoracic aortic aneurysm and dissection (TAAD) patients. METHODS: Consecutive TAAD patients with aortic root and/or ascending aortic aneurysms seen between 2011 and 2020 were included. Serial echocardiography, family history of TAAD, and management information were retrospectively collected and analyzed. Patients were classified into gene-positive (Gen-P), variants of uncertain significance, and gene-negative (Gen-N) groups. RESULTS: A total of 407 patients were included: mean age 53.7 ± 15.4 years, 64.4% men, and 38% with reported family history of TAAD. Thirty-seven (9.1%) were Gen-P; 147 (36.1%) had a variant of uncertain significance. The maximal aneurysm diameter was 4.78 mm larger in Gen-P than the other groups (P < .001). In 162 unoperated TAAD patients with serial echocardiographic measurements, aneurysms enlarged at a significantly higher rate in the Gen-P (1.36 mm/year, 95% CI: 0.77-1.95) than variants of uncertain significance and Gen-N groups (0.83 mm/year vs 0.89 mm/year, respectively; P < .001). Aneurysms were 20% more likely to require surgical intervention for every millimeter increase in diameter. When considered on an individual basis, the highest growth rates were found in the variants of uncertain significance group. CONCLUSIONS: While aneurysms linked to variants of uncertain significance demonstrate average growth rates comparable to those in Gen-N, close follow-up and genetic counseling in the variants of uncertain significance group are recommended for assessment of pathogenicity on a case-by-case basis. Early familial gene testing in TAAD is important to develop individualized preventive and therapeutic criteria.
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Aneurisma da Aorta Torácica , Dissecção Aórtica , Variação Genética , Humanos , Aneurisma da Aorta Torácica/genética , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/cirurgia , Masculino , Feminino , Pessoa de Meia-Idade , Dissecção Aórtica/genética , Dissecção Aórtica/diagnóstico , Estudos Retrospectivos , Ecocardiografia , Idoso , Adulto , Progressão da DoençaRESUMO
BACKGROUND: Patients with hypertrophic cardiomyopathy (HCM) have been shown to exhibit abnormal diastolic vessel flow; however, flow pattern profiles and their possible association with different grades of diastolic dysfunction have not been studied. Color Doppler two-dimensional echocardiography permits visualization of the septal perforator arteries, and pulsed-wave Doppler allows recording of diastolic septal artery flow (SAF). Through routine visualization of the septal perforator arteries and acquisition of SAF, we noticed 3 patterns of SAF in patients with HCM. In this study, we aimed to assess the feasibility of the acquisition of SAF and to describe types of SAF in an HCM cohort and their associations with diastolic function. METHODS: We reviewed two-dimensional echocardiograms and the electronic records of 108 patients with HCM in whom septal artery color and spectral Doppler had been performed. The peak diastolic and end-diastolic velocities, diastolic slope, diastolic flow time-velocity integral, and systolic flow reversal of the septal perforator arteries were recorded with pulsed-wave Doppler. Echocardiographic and clinical characteristics were analyzed. RESULTS: A reproducible pulsed-wave Doppler tracing was recorded in 54% of patients with HCM. Three distinct patterns of SAF were identified: type 1-smooth, linear holodiastolic velocity decrease; type 2-with presence of an atrial dip; and type 3-biphasic velocity decrease with an early, rapid diastolic slope and a mid-to-late gentle slope. These 3 SAFs correlated with different grades of diastolic dysfunction. CONCLUSION: Septal artery flow could be detected in more than 50% of patients with HCM. Three distinct types of SAF were identified, correlating with different grades of diastolic dysfunction. These 3 types of SAF can provide additional information about left ventricular end-diastolic pressure and diastolic function in patients with HCM in whom diastolic function may be difficult to determine.
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Cardiomiopatia Hipertrófica , Humanos , Velocidade do Fluxo Sanguíneo , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Vasos Coronários/diagnóstico por imagem , Diástole , EcocardiografiaRESUMO
AIMS: Mechanisms underlying left ventricular dysfunction and arrhythmogenesis in bileaflet mitral valve prolapse (BMVP) patients are not well defined. Myocardial work index (MWI) is a noninvasive assessment that correlates with myocardial oxygen consumption. We aimed to compare global and regional MWI in BMVP patients with normal controls. METHODS AND RESULTS: In this retrospective study, we calculated MWI in BMVP patients and controls using GE EchoPAC (GE Healthcare, Chicago, IL) software. Of 147 BMVP patients (59% women, mean age 54 ± 15 years), 16 had a flail mitral leaflet. There was regional heterogeneity in MWIs, with increased posterolateral trident myocardial work (2099 ± 271 vs. 1895 ± 321â mm Hg%, P = .039), constructive work (2831 ± 366 vs. 2257 ± 338â mm Hg%, P < .001), wasted work (87 [52-194] vs. 71 [42-103] mm Hg%, P = .015), peak systolic strain (-23.0 ± 2.4 vs. -19 ± 3%, P < .001), and reduction in myocardial work efficiency (95.00 [93.50-97.75] vs. 96.75 (95.00-97.75) %, P = 0.020) in 100 BMVP patients compared with age- and sex-matched controls. BMVP patients' basal septal wall MWIs were lower than those of controls. The higher work indices in patients with BMVP were reduced in those who developed flail leaflets. No significant differences in work indices were seen between ventricular arrhythmia and non-arrhythmia BMVP patients. CONCLUSION: Regional differences in MWIs were noted in the BMVP patients compared with controls, with overall reduced myocardial efficiency in the posterolateral trident and basal septal regions. In cross-sectional analysis, MWIs were not different in patients with ventricular tachyarrhythmias. Impact of MWI in long-term prognosis needs to be determined.
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Life-threatening dysrhythmias remain a significant cause of mortality in patients with nonischemic cardiomyopathy (NICM). Implantable cardioverter-defibrillators (ICD) effectively reduce mortality in patients who have survived a life-threatening arrhythmic event. The evidence for survival benefit of primary prevention ICD for patients with high-risk NICM on guideline-directed medical therapy is not as robust, with efficacy questioned by recent studies. In this review, we summarize the data on the risk of life-threatening arrhythmias in NICM, the recommendations, and the evidence supporting the efficacy of primary prevention ICD, and highlight tools that may improve the identification of patients who could benefit from primary prevention ICD implantation.
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Cardiomiopatias , Desfibriladores Implantáveis , Humanos , Tomada de Decisão Clínica , Cardiomiopatias/terapiaRESUMO
There are no national data on age-based outcomes of septal reduction therapy. Using the National Inpatient Sample, we included all adult patients who underwent septal myectomy (SM) or alcohol septal ablation (ASA) from 2005 to 2019. The primary objective was to evaluate the in-hospital mortality and new permanent pacemaker (PPM) placement after SM and ASA in 3 age groups. In total, 9,564 patients underwent SM and 5,084 underwent ASA. Compared with the age group 18 to 39 years, the odds of in-hospital mortality after SM were similar in age group 40 to 64 years and 4.46 times higher than in age group ≥65 years; the higher mortality in the older group was explained by higher co-morbidity burden on the risk-adjusted analysis. Furthermore, compared with age group 18 to 39 years, the odds of new PPM placement after SM were higher in the age groups 40 to 64 years and ≥65 years, despite the risk adjustment (adjusted odds ratio [AOR] 3.17, 95% confidence interval [CI] 1.33 to 7.58 and AOR 4.39, 95% CI 1.78 to 10.8, respectively). The odds of in-hospital mortality after ASA were similar in age groups 65 to 79 years and 18 to 64 years. However, the odds of in-hospital mortality were higher in the age group ≥80 years than in the age group 18 to 64 years, although this difference were not present after risk adjustment. The odds of new PPM after ASA were higher for the age groups 65 to 79 years and ≥80 years than age group 18 to 64 years, despite the risk adjustment (AOR 1.78, 95% CI 1.22 to 2.60 and AOR 3.10, 95% CI 2.09 to 6.57, respectively). Finally, we also estimated these absolute risks in different age groups. In conclusion, this national data will inform health care providers to better understand the aged-based risks of outcomes after septal reduction therapy.
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Ponte de Artéria Coronária , Pacientes Internados , Adulto , Humanos , Idoso , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso de 80 Anos ou mais , Pessoal de Saúde , Mortalidade Hospitalar , Razão de ChancesRESUMO
BACKGROUND: Pressure-strain loop analysis is a novel echocardiographic technique to calculate myocardial work indices that has not been applied to patients with apical hypertrophic cardiomyopathy (ApHCM). We hypothesized that myocardial work indices differ between patients with ApHCM and those with non-ApHCM. This study aimed to (1) evaluate myocardial work indices in patients with ApHCM compared with those with non-ApHCM, (2) describe associations with relevant clinical variables, and (3) examine associations with significant late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging. METHODS: We retrospectively identified 48 patients with ApHCM and 69 with non-ApHCM who had measurements of global longitudinal strain (GLS), global work index (GWI), global constructive work (GCW), global wasted work, and global work efficiency. We evaluated available cardiac magnetic resonance imaging data on 34 patients with ApHCM and 51 with non-ApHCM. Multivariable regression models correcting for traditional cardiac risk factors were used to evaluate the associations of myocardial work indices with relevant clinical variables. RESULTS: Median GLS (-11% vs -18%, P < .001), GWI (966 mm Hg% vs 1803 mm Hg%, P < .001), and GCW (1,050 mm Hg% vs 1,988 mm Hg%, P < .001) were significantly impaired in patients with ApHCM compared with those with non-ApHCM. Increasing N-terminal pro b-type natriuretic peptide, abnormal ultrasensitive troponin, and increasing maximal left ventricular wall thickness were significantly associated with reduced GWI and GCW in patients with ApHCM (P < .05). Global constructive work had only modest accuracy (area under the curve [AUC] = 0.70) to predict LGE in patients with ApHCM. However, in patients with non-ApHCM, GLS was the strongest predictor of LGE (AUC = 0.91), with a -17% cutoff yielding 81% sensitivity and 80% specificity. CONCLUSION: Myocardial work indices are significantly impaired in patients with ApHCM compared to those with non-ApHCM and correlate with important clinical variables. Global longitudinal strain, GWI, and GCW are more strongly predictive of fibrosis in patients with non-ApHCM than ApHCM.
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BACKGROUND: Seasonal variation in cardiovascular outcomes, including out-of-hospital cardiac arrest, has been described. OBJECTIVES: This study aimed to investigate seasonal differences in the incidence of in-hospital cardiac arrest (IHCA) and associated mortality. METHODS: Using National Inpatient Sample data from 2005 to 2019, we determined the incidence of IHCA in 4 seasons. The primary objective was to evaluate overall seasonal trends in the incidence of IHCA and trends stratified by sex, age, and region. The secondary aim was to determine common causes of admission that led to IHCA, differences in those with shockable vs nonshockable IHCA, independent predictors of IHCA, and seasonal variation in IHCA-related in-hospital mortality and length of stay. RESULTS: A consistent winter peak was observed in the incidence of IHCA in both male and female patients over the years in all age groups except young (<45 years) and in all regions. In 2019, both unadjusted and risk-adjusted odds of IHCA were higher (OR: 1.13; P < 0.001; adjusted OR: 1.08; P = 0.033) in winter than in summer. Patients with shockable IHCA were mainly admitted for cardiac and those with nonshockable IHCA for noncardiac conditions. No seasonal variation was observed in in-hospital mortality after IHCA. Therefore, seasonal variation exists, with a higher IHCA event rate in winter than summer. CONCLUSIONS: Improving insights into factors that influence the higher IHCA event rate during winter may help with proper resource allocation, development of strategies for early recognition of patients vulnerable to IHCA, and closer monitoring and optimization of care to prevent IHCA and improve outcomes.
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Parada Cardíaca , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Estações do Ano , Incidência , Parada Cardíaca/epidemiologia , Hospitalização , HospitaisRESUMO
The regional differences in the use of septal reduction therapies and the associated outcomes in patients with Hypertrophic obstructive cardiomyopathy (HOCM) are unknown. The primary objective of our study was to evaluate the regional disparities in the use of septal reduction therapies, including septal myectomy and alcohol septal ablation, in patients with HOCM. The secondary objective was to analyze the regional differences in the outcomes in these patients. Patients with HOCM had 87% higher risk-adjusted odds of getting septal myectomy (adjusted odds ratio 1.87, pâ¯=â¯0.03) and 37% lower risk-adjusted odds of getting alcohol septal ablation (adjusted odds ratio 0.63, pâ¯=â¯0.03) in the Midwest than in the Northeast. The in-hospital mortality rate was higher for patients who underwent septal myectomy in the South versus the Northeast on the unadjusted analysis. These differences persisted despite the adjustment for demographic and clinical characteristics. Additional adjustment for hospital volume partially explained these disparities, but the adjustment for both hospital volume and hospital teaching status completely explained these disparities. The risk-adjusted in-hospital mortality in patients who underwent alcohol septal ablation was similar in the South versus other regions. In conclusion, regional disparities may exist in the use of septal myectomy and alcohol septal ablation, and patients with HOCM should be referred to high-volume teaching hospitals for septal myectomy for better outcomes, which may also eliminate the extra burden of hospital mortality in the South.
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Procedimentos Cirúrgicos Cardíacos , Cardiomiopatia Hipertrófica , Humanos , Estados Unidos/epidemiologia , Resultado do Tratamento , Septos Cardíacos/cirurgia , Ponte de Artéria Coronária , Cardiomiopatia Hipertrófica/cirurgiaRESUMO
OBJECTIVE: To compare clinical characteristics, treatment patterns, and 30-day all-cause readmission and mortality between patients hospitalized for heart failure (HF) before and during the coronavirus disease 2019 (COVID-19) pandemic. PATIENTS AND METHODS: The study was conducted at 16 hospitals across 3 geographically dispersed US states. The study included 6769 adults (mean age, 74 years; 56% [5033 of 8989] men) with cumulative 8989 HF hospitalizations: 2341 hospitalizations during the COVID-19 pandemic (March 1 through October 30, 2020) and 6648 in the pre-COVID-19 (October 1, 2018, through February 28, 2020) comparator group. We used Poisson regression, Kaplan-Meier estimates, multivariable logistic, and Cox regression analysis to determine whether prespecified study outcomes varied by time frames. RESULTS: The adjusted 30-day readmission rate decreased from 13.1% (872 of 6648) in the pre-COVID-19 period to 10.0% (234 of 2341) in the COVID-19 pandemic period (relative risk reduction, 23%; hazard ratio, 0.77; 95% CI, 0.66 to 0.89). Conversely, all-cause mortality increased from 9.7% (645 of 6648) in the pre-COVID-19 period to 11.3% (264 of 2341) in the COVID-19 pandemic period (relative risk increase, 16%; number of admissions needed for one additional death, 62.5; hazard ratio, 1.19; 95% CI, 1.02 to 1.39). Despite significant differences in rates of index hospitalization, readmission, and mortality across the study time frames, the disease severity, HF subtypes, and treatment patterns remained unchanged (P>0.05). CONCLUSION: The findings of this large tristate multicenter cohort study of HF hospitalizations suggest lower rates of index hospitalizations and 30-day readmissions but higher incidence of 30-day mortality with broadly similar use of HF medication, surgical interventions, and devices during the COVID-19 pandemic compared with the pre-COVID-19 time frame.
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COVID-19 , Insuficiência Cardíaca , Masculino , Adulto , Humanos , Idoso , Pandemias , Estudos de Coortes , COVID-19/epidemiologia , COVID-19/terapia , Hospitalização , Readmissão do Paciente , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/terapiaRESUMO
Background: Hypertrophic cardiomyopathy in identical twins is rare. Cases of hypertrophic cardiomyopathy with homogenous and heterogeneous phenotypes have been described in the literature. Case summary: We report a pair of monozygotic twins (Twin A and Twin B) with identical morphological expression of hypertrophic cardiomyopathy. On initial evaluation, both twins had resting left ventricular outflow tract obstruction, Grade II diastolic dysfunction, and New York Heart Association (NYHA) Class II symptoms, but they had a different clinical course afterward. Twin A progressed from NYHA Class II to Class III with a high left ventricular outflow tract pressure gradient that was unresponsive to medical treatment and required alcohol septal ablation. Twin B responded very well to medical treatment. Both patients had no risk factors for sudden cardiac death, and neither required an implantable cardioverter defibrillator. Discussion: The morphology of hypertrophic cardiomyopathy has a strong genetic basis, but epigenetic factors may affect disease expression.
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Background: Cardiac tumors are usually metastatic. Melanoma is the tumor with the highest rate of cardiac metastasis. Clinicians need to be aware of the metastatic involvement of the left ventricular apex as a differential diagnosis of apical hypertrophic cardiomyopathy. Case summary: A 74-year-old woman presented for evaluation of fatigue. The initial electrocardiogram and echocardiogram showed features of apical hypertrophic cardiomyopathy. The patient reported a lesion on her right forearm that had been present for many years, leading to its biopsy, which showed melanoma. Further evaluation with a chest-computed tomography (CT) scan showed left lung nodules and nodular thickening of the left ventricular apex. Positron emission tomography showed an increased uptake of fluorodeoxyglucose in the left lung nodule and left ventricular apex, suggestive of metastatic spread of the melanoma. A CT-guided biopsy of the left lung nodule revealed melanoma. The patient was treated with ipilimumab initially, followed by paclitaxel with poor response to treatment, and later passed under hospice care. Conclusion: Metastatic tumors involving the left ventricular apex should be considered in the differential diagnosis of apical hypertrophic cardiomyopathy, especially in patients with a history of melanoma, and advanced cardiac imaging, including cardiac magnetic resonance imaging, CT, and/or positron emission tomography (PET) may help with narrowing down the differential diagnosis.