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1.

Background

Fabry disease is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these 2 diseases diverge, with Fabry disease–specific treatment utilizing recombinant α-galactosidase A enzyme replacement therapy.

Methods

We studied a prospectively assembled consecutive cohort of 585 patients (71% male) from 2 hypertrophic cardiomyopathy tertiary referral centers by screening for low α-galactosidase A activity in dried blood spots. Male patients with low α-galactosidase A activity levels and all females were tested for mutations in the GLA gene.

Results

In 585 patients previously diagnosed with hypertrophic cardiomyopathy, we identified 2 unrelated patients (0.34%), both with the GLA mutation encoding P.N215S, the most common mutation causing later-onset Fabry disease phenotype. These patients were both asymptomatic, a man aged 53 years and a woman aged 69 years, and demonstrated a mild cardiac phenotype with symmetric distribution of left ventricular hypertrophy. After family screening, a total of 27 new Fabry disease patients aged 2-81 years were identified in the 2 families, including 12 individuals who are now receiving enzyme replacement therapy.

Conclusions

These observations support consideration for routine prospective screening for Fabry disease in all patients without a definitive etiology for left ventriclar hypertrophy. This strategy would likely result, through cascade family testing, in the earlier identification of new Fabry disease–affected males and female heterozygotes who may benefit from monitoring and/or enzyme replacement therapy.  相似文献   

2.

Background

Stress cardiomyopathy is a transient cardiac syndrome characterized by reversible left ventricular systolic dysfunction precipitated by emotional or physiologic stress. The presence of obstructive coronary artery disease has been noted in stress cardiomyopathy.

Methods

We describe 3 case reports of patients with acute coronary syndrome and transient wall motion abnormalities not usually seen in the distribution of coronary artery disease.

Results

In these 3 cases of acute myocardial infarction, the distribution of the culprit coronary occlusion was not concordant with the territory of transient wall motion abnormality. Follow-up demonstrated resolution of the wall motion abnormalities without intervention in these territories.

Conclusion

We believe that the physiologic stress of the acute coronary syndrome may have precipitated the stress cardiomyopathy as presented by these patients. This is the first demonstration that stress cardiomyopathy may be precipitated by acute coronary syndrome.  相似文献   

3.

Background

Surgical myectomy reverses heart failure symptoms in the vast majority of obstructive hypertrophic cardiomyopathy patients. However, a small subgroup fails to experience sustained postoperative improvement despite relief of obstruction. Clinical profile of such patients has not been well defined.

Methods

Consecutive obstructive hypertrophic cardiomyopathy patients undergoing myectomy at Tufts Medical Center for drug-refractory New York Heart Association III/IV heart failure symptoms, 2004 to 2017, were followed postoperatively for 2.5 ± 2.8 years and assessed for outcome.

Results

Of the 503 patients, there were 4 postoperative deaths (0.8%); 480 patients (96%) had sustained improvement to New York Heart Association classes I or II (responders), but 19 (3.8%) developed advanced symptoms (classes III or IV) in the absence of obstruction (nonresponders). Compared with responders, nonresponders were younger (40 ± 13 vs 53 ± 14 years; P < .001) and had greater septal thickness (25 ± 9 vs 20 ± 4 mm; P < .001). Massive hypertrophy (≥30 mm) was 5-fold more common in nonresponders (P < .01). Seven nonresponders developed systolic dysfunction (ejection fraction 20%-47%), 2 days to 6.1 years postoperatively. Four nonresponders underwent heart transplant 3.4 to 9.2 years after myectomy, and 2 others have been listed.

Conclusions

Surgical myectomy is highly effective at reversing heart failure symptoms in the vast majority of patients with obstructive hypertrophic cardiomyopathy. However, a small minority experience persistent functional limitation despite surgical relief of outflow obstruction. Predictors of adverse postoperative course were substantial/massive septal thickness and youthful age. Patients who failed to respond symptomatically to myectomy were considered for advanced heart failure treatment, including heart transplantation.  相似文献   

4.
5.

Background

In developing countries, the number of adults who develop myocardial infarction (MI) at a young age is high. The popularity of waterpipe smoking (WPS) has increased among the same age group. It is unknown if WPS contributes to the incidence of early-onset MI.

Objective

To study the association of WPS with early-onset MI, which is defined as first MI occurring in individuals 18 ≥ age ≤ 45 years compared to those older than 45 years.

Methods

This was a cross-sectional study. The association of WPS with first-time MI was compared between younger and older adults (N = 225).

Results

Twenty-five percent of all participants developed an acute MI before the age of 46 years. Both cigarette and WPS were more common among younger first-time MI patients than older first-time MI patients.

Conclusions

WPS is one risk factor that distinguishes the risk profile of young adults with early-onset MI.  相似文献   

6.

Background

Diabetes mellitus is associated with left ventricular hypertrophy and dysfunction. Parallel studies have also reported associations between diabetes mellitus and right ventricular dysfunction and reduced survival in patients with pulmonary arterial hypertension. However, the impact of diabetes mellitus on the pulmonary vasculature has not been well characterized. We hypothesized that diabetes mellitus and hyperglycemia could specifically influence right ventricular afterload and remodeling in patients with Group I pulmonary arterial hypertension, providing a link to their known susceptibility to right ventricular dysfunction.

Methods

Using an adjusted model for age, sex, pulmonary vascular resistance, and medication use, associations of fasting blood glucose, glycated hemoglobin, and the presence of diabetes mellitus were evaluated with markers of disease severity in 162 patients with pulmonary arterial hypertension.

Results

A surrogate measure of increased pulmonary artery stiffness, elevated pulmonary arterial elastance (P = .012), along with reduced log(pulmonary artery capacitance) (P = .006) were significantly associated with the presence of diabetes mellitus in patients with pulmonary arterial hypertension in a fully adjusted model. Similar associations between pulmonary arterial elastance and capacitance were noted with both fasting blood glucose and glycated hemoglobin. Furthermore, right ventricular wall thickness on echocardiography was greater in pulmonary arterial hypertension patients with diabetes, supporting the link between right ventricular remodeling and diabetes.

Conclusion

Cumulatively, these data demonstrate that an increase in right ventricular afterload, beyond pulmonary vascular resistance alone, may influence right ventricular remodeling and provide a mechanistic link between the susceptibility to right ventricular dysfunction in patients with both diabetes mellitus and pulmonary arterial hypertension.  相似文献   

7.

Background

Sedation of mechanically ventilated patients should optimize comfort and safety while avoiding over-sedation and adverse outcomes. To our knowledge, characteristics associated with attaining target sedation are unknown.

Objectives

Evaluate current sedation practice at a single center and explore which patient characteristics are associated with attaining target sedation.

Methods

This is a single-center, retrospective chart review of sedated, ventilated patients in a medical/surgical ICU. Demographic and clinical data were collected. Univariate and multivariate logistic regression analyses were used with attaining target sedation as the dependent variable.

Results

Of the 100 patients included (median 60.5 years), 50 attained target sedation. Univariate analyses (a = 0.10) revealed factors associated with target sedation were age (P = 0.08), history of alcohol abuse (P = 0.08), multiple comorbidities (P = 0.09), and delirium monitoring (P = 0.002). Multivariate analysis revealed an association between delirium monitoring/documentation and attaining target sedation (P = 0.005; OR 9.2; 95% CI 2.3–36.8).

Conclusions

Patients without appropriate delirium monitoring/documentation had significantly reduced likelihood of achieving target sedation.  相似文献   

8.

Background

In critically ill patients, clinicians can have difficulty obtaining accurate oximetry measurements.

Objective

To compare the accuracy of nasal alar and forehead sensor measurements and incidence of pressure injury.

Methods

43 patients had forehead and nasal alar sensors applied. Arterial samples were obtained at 0, 24, and 120 hours. Oxygen saturations measured by co-oximetry were compared to sensor values. Skin was assessed every 8 hours.

Results

Oxygen saturations ranged from 69.8%-97.8%, with 18% of measures < 90%. Measurements were within 3% of co-oximetry values for 54% of nasal alar compared to 35% of forehead measurements. Measurement failures occurred in 6% for nasal alar and 22% for forehead. Three patients developed a pressure injury with the nasal alar sensor and 13 patients developed a pressure injury with the forehead sensor (χ2 = 7.68; p = .006).

Conclusions

In this group of patients with decreased perfusion, nasal alar sensors provided a potential alternative for continuous monitoring of oxygen saturation.  相似文献   

9.

Background

Research findings on the value of nurse certification were based on subjective perceptions or biased by correlations of certification status and global clinical factors. In heart failure, the value of certification is unknown.

Objectives

Examine the value of certification based nurses' decision-making.

Methods

Cross-sectional study of nurses who completed heart failure clinical vignettes that reflected decision-making in clinical heart failure scenarios. Statistical tests included multivariable linear, logistic and proportional odds logistic regression models.

Results

Of nurses (N = 605), 29.1% were heart failure certified, 35.0% were certified in another specialty/job role and 35.9% were not certified. In multivariable modeling, nurses certified in heart failure (versus not heart failure certified) had higher clinical vignette scores (p = 0.002), reflecting higher evidence-based decision making; nurses with another specialty/role certification (versus no certification) did not (p = 0.62).

Conclusions

Heart failure certification, but not in other specialty/job roles was associated with decisions that reflected delivery of high-quality care.  相似文献   

10.

Background

Nationally-derived models predicting 30-day readmissions following heart failure (HF) hospitalizations yield insufficient discrimination for institutional use.

Objective

Develop a customized readmission risk model from Medicare-employed and institutionally-customized risk factors and compare the performance against national models in a medical center.

Methods

Medicare patients age ≥ 65 years hospitalized for HF (n = 1,454) were studied in a derivation cohort and in a separate validation cohort (n = 243). All 30-day hospital readmissions were documented. The primary outcome was risk discrimination (c-statistic) compared to national models.

Results

A customized model demonstrated improved discrimination (c-statistic 0.72; 95% CI 0.69 – 0.74) compared to national models (c-statistics of 0.60 and 0.61) with a c-statistic of 0.63 in the validation cohort. Compared to national models, a customized model demonstrated superior readmission risk profiling by distinguishing a high-risk (38.3%) from a low-risk (9.4%) quartile.

Conclusions

A customized model improved readmission risk discrimination from HF hospitalizations compared to national models.  相似文献   

11.

Background

African Americans with heart failure (HF) have the highest rates of depression among all ethnicities in the USA.

Objectives

To compare the effects by race on depressive symptoms and topics discussed in the first clinic appointment after HF hospitalization.

Methods

This study is a secondary analysis of data from a randomized clinical trial testing a patient group discussion of HF self-management with 93 Caucasians and 77 African Americans.

Results

Reduction in depressive symptoms was significantly greater among African American patients within the intervention group (F = 3.99, p = .047) than controls. There were significant differences by race in four topics (dietitian referral, appointment date, help preparing discussion questions, and advice on worsening HF symptoms) concerning patient-physician discussions.

Conclusion

The intervention showed greater effect in reducing depressive symptoms among African Americans than Caucasians. Preparing patients for discussions at physician appointments on diet, depressive symptoms, and HF symptoms is recommended.  相似文献   

12.

Background

The relationship between physical heart failure (HF) symptoms and pathophysiological mechanisms is unclear.

Objective

To quantify the relationship between plasma β-adrenergic receptor kinase-1 (βARK1) and physical symptoms among adults with HF.

Methods

We performed a secondary analysis of data collected from two studies of adults with HF. Plasma βARK1 was quantified using an enzyme-linked immunosorbent assay. Physical symptoms were measured with the HF Somatic Perception Scale (HFSPS). Generalized linear modeling was used to quantify the relationship between βARK1 and HFSPS scores.

Results

The average age (n = 94) was 54.5 ± 13.1 years, 76.6% were male, and a majority (83.0%) had Class III or IV HF. βARK1 was significantly associated with HFSPS scores (β = 0.22 ± 0.10, p = 0.038), adjusting for other predictors of physical symptoms (model R2 = 0.250, F(7, 70) = 3.34, p = 0.004).

Conclusions

Higher βARK1 is associated with worse physical HF symptoms, pinpointing a potential pathophysiologic underpinning.  相似文献   

13.

Background

Late gadolinium enhancement (LGE) on cardiac MRI indicates the myocardial fibrosis in hypertrophic cardiomyopathy (HCM), and the prognostic value of LGE in HCM has been described in several studies, but controversy exists given the limited power of these studies to predict future adverse cardiac events. The objective of this study was to perform a meta-analysis to systematically evaluate the predictive value of LGE on cardiac magnetic resonance (CMR) for future adverse cardiac events.

Methods

We systematically searched multiple database including PubMed, EMBASE, and Cochrane Library for cohort studies of the effects of LGE on clinical outcomes (sudden cardiac death (SCD)/aborted SCD, all cardiac death, and all-cause mortality) in patients with HCM. We performed a meta-analysis to determine pooled odds ratios (OR), weighted average annualized event rates, and summary receiver-operating characteristic (SROC) curves for these clinical events.

Results

We identified nine clinical studies, examining 1734 patients with LGE and 2036 without LGE, and an average follow-up of 2.9 years. The weighted average annualized event rates of SCD/aborted SCD in patients with HCM (positive LGE versus negative LGE) was 1.28% versus 0.32% (p < 0.001), and the pooled OR was 3.40 (95% CI: 1.90, 6.08; p < 0.001). The sensitivity and specificity of predicting future cardiac events were 0.83 (95% CI: 0.66, 0.93) and 0.45 (95% CI: 0.31, 0.59), respectively. The 5-year risk of SCD/aborted SCD was 6.4% in patients with LGE. The all cardiac death and all-cause mortality were also significantly increased in patients with LGE. However, the extent of LGE was not significantly related to the risk of SCD/aborted SCD.

Conclusions

LGE is significantly associated with SCD/aborted SCD risk, all cardiac death and all-cause mortality in patients with HCM. Implantable cardioverter defibrillators (ICD) can be considered for those patients with LGE.  相似文献   

14.

Background

Identification of a subclinical cardiomyopathy in pediatric patients with Friedreich's ataxia (FA) has not been well-described.

Methods

We performed echocardiography (Echo), cardiac magnetic resonance imaging (cMRI), and neurologic assessment in a cross-sectional analysis of 48 genetically confirmed FA subjects aged 9–17 years with moderate neurologic impairment but without a cardiovascular history. Echo- and cMRI-determined left ventricular mass were indexed (LVMI) to height in grams/m2.7. LV remodeling was categorized as concentric remodeling (CR), concentric hypertrophy (CH), or eccentric hypertrophy based upon Echo- determined relative LV wall thickness.

Results

Echo LVMI exceeded age-based normal values in 85% of subjects, and cMRI-determined LVMI correlated with depression of both diastolic and systolic tissue Doppler velocity (E′: r?=?–0.65, P?<?.001, S′: r = –0.46, P?<?.001) as well as increased early diastolic Doppler flow velocity/tissue velocity ratio (r =?0.55, P?<?.001), a marker of elevated LV filling pressure. Similar associations were found with echo-determined LV mass. Evidence of depressed LV relaxation and increased LV stiffness were observed in 88% and 71%, of subjects, respectively, despite a normal LV ejection fraction in almost all cases (mean?=?60%?+?7%). CR and CH were present in 40% and 44% of the study group, respectively, although significant depressions of E′ and S′ were observed only in subjects with CH (P?<?.005).

Conclusions

A subclinical hypertrophic cardiomyopathy is common in pediatric FA patients and CH is associated with both diastolic and systolic dysfunction.  相似文献   

15.

Background

The mechanisms contributing to the success of cardiac rehabilitation (CR) are poorly understood and may include assessment, monitoring and review activities enabled by continuity of care and this is investigated in this study.

Objectives

To identify active assessment components of CR.

Methods

A qualitative study using focus groups and individual interviews. CR staff (n = 39) were recruited via professional association email and network contacts and organised into major themes.

Results

CR staff assessment strategies and timely actions undertaken provided a sophisticated post-discharge safety net for patients. Continuity of care enabled detection of adverse health indicators, of which medication issues were prominent. Interventions were timely and personalised and therefore likely to impact outcomes, but seldom documented or reported and thus invisible to audit.

Conclusion

CR staff assessment and intervention activities provide an unrecognised safety net of activities enabled by continuity of care, potentially contributing to the effectiveness of CR.  相似文献   

16.

Background

There is no insomnia screening tool validated in intensive care unit (ICU) survivors.

Objectives

To examine the validity of a single item from the PTSD checklist-Civilian version (PCL-C) to detect insomnia by Insomnia Severity Index (ISI)

Methods

We performed a secondary analysis of data from a longitudinal investigation in 120 medical-surgical ICU survivors. At 1 year post-ICU, patients completed ISI, PCL-C, and Medical Short-Form 12 (SF-12) by telephone. A single PCL-C item rates difficulty initiating or maintaining sleep over the past month. We compared performance characteristics of this PCL-C item to ISI-defined insomnia (ISI ≥15).

Results

A score of ≥3 on the PCL-C sleep item exhibited 91% sensitivity and 67% specificity for ISI-defined insomnia (ISI ≥ 15), and it demonstrated construct validity by correlation to related QOL indices.

Conclusions

A single PCL-C sleep item score ≥ 3 is a reasonable screen to identify insomnia symptoms in ICU survivors.  相似文献   

17.

Background

Pulmonary arterial hypertension (PAH) has a delay in diagnosis that makes time since diagnosis of interest in this population.

Objectives

To assess psychological conditions, perceived stress, QOL, and interpersonal support and to explore whether these factors may correlate with time since diagnosis in patients with PAH.

Methods

Participants at an academic medical center (n = 108) completed psychological questionnaires (Cambridge Pulmonary Hypertension Outcome Review, Patient Health Questionnaire-9, Perceived Stress Scale-10, and Interpersonal Support Evaluation List-Short Form).

Results

Prevalence of psychiatric disorder, major depression, and “other depressive disorder” were 29.6%, 15.7%, and 9.3%, respectively. Participants reported adequate social support, high perceived stress, and average quality of life. Time since diagnosis was positively associated with greater perceived social support (ρ = 0.174, p = .075) and greater perceived stress (ρ = 0.191, p = .048), but no other psychological factor.

Conclusions

Routine psychological assessment and timely referral for mental health services are suggested. Social support may buffer patients from stress.  相似文献   

18.

Background

Experts recommend obtaining one-time dual- (inter)-arm blood pressure (BP) measurements to predict cardiovascular morbidity risk.

Objectives

To determine differences in inter-arm systolic (S)/diastolic (D) BPs obtained simultaneously and sequentially and examine associations between patient factors and clinical outcomes and inter-arm BP differences.

Method

A comparative study of adults treated in intensive care; multivariable logistic models were created to determine the extent that inter-arm BP differences predicted outcomes.

Results

Of 427 adults in intensive care units, 31.8% had differences of >10 mmHg on simultaneous measurement and 35.1% had differences of >10 mmHg on sequential measurement; differences >15 mmHg were 17.9% and 19.8%, respectively. After controlling for patient factors, simultaneous inter-arm DBP differences >15 mmHg were associated with shorter hospital and longer intensive care length of stay (p = 0.031 and 0.029, respectively) and a 79% reduction in the likelihood of discharge to home (p = 0.009).

Conclusions

Simultaneous inter-arm DBP differences >15 mmHg were associated with clinical outcomes.  相似文献   

19.

Background

Right atrial (RA) enlargement is a common finding in patients with pulmonary arterial hypertension (PAH) and an important predictor of mortality, however its relation to the risk of atrial arrhythmias has not been assessed.

Objectives

To assess whether RA enlargement is associated with supraventricular arrhythmias (SVA) and whether it predicts new clinically significant SVA (csSVA).

Methods

Patients with PAH were recruited between January 2010 and December 2014 and followed until January 2017. csSVA was diagnosed if it resulted in hospitalization. To assess predictors of new csSVA, only patients without a history of SVA at baseline were analyzed.

Results

Among 97 patients, any SVA was observed in 45 (46.4%) and included permanent atrial fibrillation(AF, n = 8), paroxysmal AF (n = 10), permanent atrial flutter (AFl, n = 1), paroxysmal AFl (n = 2) or other types of supraventricular tachycardia (n = 24). Patients with SVA as compared to patients without SVA were characterized by older age, lower distance in a 6-minute test, higher NT-proBNP, higher RA area index (RAai), left atrial area index, mean right atrial pressure (mRAP) and were more commonly treated with β-blocker. Eighty five patients who were in sinus rhythm at baseline assessment and had no history of significant SVA were observed for 37 ± 19.9 months. During that time csSVA occurred in 15.3%. In univariate models, the occurrence of csSVA were predicted by age, right ventricular ejection fraction, right ventricular end diastolic index, RAai and mRAP, but in multivariate model only RAai remained significant predictor for csSVA (HR of 1.23, 95%CI: 1.11–1.36, p < 0.001). The optimal threshold for RA enlargement as discriminator of csSVA was 21.7 cm2/m2.

Conclusions

In PAH patients RA enlargement is associated with increased prevalence of SVA. RAai is an independent predictor of hospitalization due to csSVA.  相似文献   

20.

Background

Heart rate variability (HRV), modulated by cardiac autonomic function, is impaired in obstructive sleep apnea (OSA). However, the effect of continuous positive airway pressure (CPAP) on HRV is debated.

Objectives

To investigate the associations between CPAP and HRV in OSA.

Methods

Based on literature from five databases published through August 2017, we performed a meta-analysis of cohort studies of OSA treated with CPAP. The change of low-frequency band (LF), high-frequency band (HF) and the ratio between LF and HF (LHR) were analyzed.

Results

Eleven studies were included. Decreased LF (SMD = ?0.32, 95%CI: ?0.62,?0.01; P = 0.043) and HF (SMD = ?0.51, 95%CI: ?0.95, ?0.08, P = 0.020) were shown while measured on CPAP. When measured off CPAP, HF was increased remarkably (SMD: 0.31, 95%CI: 0.02, 0.60, P = 0.034).

Conclusions

CPAP can improve autonomic activity, which might be one mechanism to reduce the risk of cardiovascular diseases in OSA.  相似文献   

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