scholarly journals Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease

Open Heart ◽  
2018 ◽  
Vol 5 (2) ◽  
pp. e000803 ◽  
Author(s):  
Dan Liu ◽  
Daniel Oder ◽  
Tim Salinger ◽  
Kai Hu ◽  
Jonas Müntze ◽  
...  
Keyword(s):  
Strain Rate ◽  
Diastolic Dysfunction ◽  
Fabry Disease ◽  
Myocardial Fibrosis ◽  
Cardiac Fibrosis ◽  
Left Atrial Volume ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Functional Impairments ◽  
Ventricular Ejection Fraction

ObjectivesCurrent guidelines highlight important therapy implications of cardiac fibrosis in patients with Fabry disease (FD). However, association between morphological and functional impairments with cardiac fibrosis in hereditary cardiomyopathies remains elusive. We investigated the association between echocardiography-determined cardiac dysfunction and cardiac MRI (cMRI)-detected myocardial fibrosis (late gadolinium enhancement, LE) in patients with FD with preserved left ventricular ejection fraction (≥50%).Methods146 patients with FD (aged 39±14 years, 57 men) were analysed, all receiving echocardiography and cMRI within a 1 week interval. Longitudinal systolic strain (LS_sys), strain rate (LSr_sys) and diastolic strain rate (LSr_E/LSr_A) were assessed using speckle-tracking imaging. Receiver operating characteristic (ROC) analysis was performed to identify the diagnostic performance of various markers for LE.ResultsLE was detected in 57 (39%) patients with FD. LV wall thickness, left atrial volume, septal E/e′, diastolic dysfunction grade, global LS_sys and E/LSr_E, mid-lateral LS_sys and LSr_E, as well as N-terminal pro-brain natriuretic peptide were all associated with LE independent of age, sex, body mass index, New York Heart Association functional class and kidney function. In ROC curve analysis, septal E/e′ performed best (area under the curve=0.86, 95% CI=0.79 to 0.92). Septal E/e′>14.8 was strongly associated with LE (specificity=97.8% and sensitivity=49.1%). In 9% of patients, localised LE was present even though no other cardiac or kidney abnormalities were detected.ConclusionsEchocardiography-derived diastolic dysfunction is closely linked to LE in FD. Septal E/e′ ratio is the best echocardiographic marker suggestive of LE. Diastolic dysfunction is not a prerequisite for LE in FD, since LE can be detected in the absence of measurable cardiac functional impairments.Trial registration numberClinicalTrials.gov Identifier (NCT03362164).

scholarly journals Pericardial fat and its influence on cardiac diastolic function

2020 ◽  
Author(s):  
Vera de Wit-Verheggen ◽  
Sibel Altintas ◽  
Romy Spee ◽  
Casper Mihl ◽  
Sander van Kuijk ◽  
...  
Keyword(s):  
Diastolic Dysfunction ◽  
Diastolic Function ◽  
Linear Regression Analysis ◽  
Left Atrial Volume ◽  
Left Ventricular ◽  
Volume Index ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction ◽  
Pericardial Fat ◽  
Left Atrial Volume Index

Abstract BackgroundPericardial fat (PF) has been suggested to directly act on cardiomyocytes, leading to diastolic dysfunction. The aim of this study was to investigate whether PF volume is associated with diastolic function independently.Methods254 healthy adults (50-70 years, BMI 18-35 kg/m2, normal left ventricular ejection fraction) from the cardiology outpatient department were included in this study. All patients underwent a coronary computed tomographic angiography for the measurement of pericardial fat volume, as well as a transthoracic echocardiography for the assessment of diastolic function parameters. To assess the independent association of PF and diastolic function parameters multivariable linear regression analysis was performed. To maximize differences in PF volume, the group was divided in low (lowest quartile of both sexes) and high (highest quartile of both sexes) PF. Multivariable binary logistic analysis was used to study the associations within the groups between PF and diastolic function, adjusted for age, BMI and sex.ResultsSignificant associations for all four diastolic parameters with the PF volume were found after adjusting for BMI, age, and sex. In addition, subjects with high pericardial fat had a reduced left atrial volume index (p=0.02), lower E/e (p<0.01) and E/A (p=0.01), reduced e’ lateral (p<0.01), reduced e’ septal p=0.03), compared to subjects with low pericardial fat.ConclusionThese findings confirm that pericardial fat, even in healthy subjects with normal cardiac function, is associated with diastolic function. Our results suggest that the mechanical effects of PF may limit the distensibility of the heart and thereby directly contribute to diastolic dysfunction. Trial registration NCT01671930

Clinical characteristics and myocardial function assessed by traditional and novel echocardiographic methods in competitive triathletes with and without myocardial fibrosis

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
D Knappe ◽  
J Muench ◽  
S Yildirim ◽  
K Witzel ◽  
E Tahir ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Myocardial Fibrosis ◽  
Clinical Characteristics ◽  
Longitudinal Strain ◽  
Global Longitudinal Strain ◽  
Left Atrial Volume ◽  
Left Ventricular ◽  
Volume Index ◽  
Left Ventricular Ejection ◽  
Ventricular Ejection Fraction

Abstract Background The aim of the present study was to compare clinical characteristics and cardiac structure and function in competitive triathletes with and without myocardial fibrosis. Methods Cardiac fibrosis in 61 healthy male competitive triathletes (&gt;10 hrs of training per week, age 45±10 yrs) was quantified using LGE-sequences in CMR (1.5 tesla scanner). Transthoracic echocardiography, physical examination, past medical history and routine lab diagnosis for exclusion of other conditions were performed. Baseline characteristics like blood pressure at rest (BP), bodymass-index (BMI), and systolic and diastolic echocardiographic parameters (left atrial volume index (LAVI), e', E, A, right ventricular pressure gradient) as well as global longitudinal strain, were analysed by two independent observers blinded to the CMR measurements. Triathletes were sub-divided into LGE-positives (LGE+) vs. LGE-negatives (LGE-). Results All individuals appeared healthy with no drug history. Focal non-ischaemic LGE was detected in 19 triathletes. Compared to LGE-negative triathletes, LGE-positives showed significantly higher systolic BP (142 vs. 128 mmHg, p=0.004). Logistic regression showed, that per 10 mmHg enhanced blood pressure the chance for LGE rises by 89%. Triathletes with and without LGE demonstrated no difference in conventional echocardiographic measurements such as left ventricular ejection fraction and volumes and no difference in diastolic parameters. But the presence of MF did mediate global longitudinal strain (GLS). Global longitudinal strain was significantly reduced in LGE positive athletes (LGE+: −19.8±3.4; LGE-: −21.7±2.4, p=0.04) Conclusions Reduced global longitudinal strain mediated as an early echocardiographic marker for subclinical changes in asymptomatic competitive triathletes with myocardial fibrosis compared to triathletes without LGE. Novel echocardiographic parameter such as longitudinal strain might serve as an easy tool to identify high endurance athletes at higher risk for cardiovascular events and that individuals with enhanced blood pressure should undergo cardiac consultation before starting endurance-training in competitive disciplines. Funding Acknowledgement Type of funding source: None

scholarly journals Rationale and design of the PHOspholamban RElated CArdiomyopathy intervention STudy (i-PHORECAST)

2021 ◽  
Author(s):  
W. P. te Rijdt ◽  
E. T. Hoorntje ◽  
R. de Brouwer ◽  
A. Oomen ◽  
A. Amin ◽  
...  
Keyword(s):  
Disease Progression ◽  
Cardiac Fibrosis ◽  
Intervention Study ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Probe Design ◽  
Mineralocorticoid Receptor Antagonist ◽  
Ventricular Ejection Fraction ◽  
Increased Risk ◽  
Overt Disease

Abstract Background The p.Arg14del (c.40_42delAGA) phospholamban (PLN) pathogenic variant is a founder mutation that causes dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM). Carriers are at increased risk of malignant ventricular arrhythmias and heart failure, which has been ascribed to cardiac fibrosis. Importantly, cardiac fibrosis appears to be an early feature of the disease, occurring in many presymptomatic carriers before the onset of overt disease. As with most monogenic cardiomyopathies, no evidence-based treatment is available for presymptomatic carriers. Aims The PHOspholamban RElated CArdiomyopathy intervention STudy (iPHORECAST) is designed to demonstrate that pre-emptive treatment of presymptomatic PLN p.Arg14del carriers using eplerenone, a mineralocorticoid receptor antagonist with established antifibrotic effects, can reduce disease progression and postpone the onset of overt disease. Methods iPHORECAST has a multicentre, prospective, randomised, open-label, blinded endpoint (PROBE) design. Presymptomatic PLN p.Arg14del carriers are randomised to receive either 50 mg eplerenone once daily or no treatment. The primary endpoint of the study is a multiparametric assessment of disease progression including cardiac magnetic resonance parameters (left and right ventricular volumes, systolic function and fibrosis), electrocardiographic parameters (QRS voltage, ventricular ectopy), signs and/or symptoms related to DCM and ACM, and cardiovascular death. The follow-up duration is set at 3 years. Baseline results A total of 84 presymptomatic PLN p.Arg14del carriers (n = 42 per group) were included. By design, at baseline, all participants were in New York Heart Association (NHYA) class I and had a left ventricular ejection fraction > 45% and < 2500 ventricular premature contractions during 24-hour Holter monitoring. There were no statistically significant differences between the two groups in any of the baseline characteristics. The study is currently well underway, with the last participants expected to finish in 2021. Conclusion iPHORECAST is a multicentre, prospective randomised controlled trial designed to address whether pre-emptive treatment of PLN p.Arg14del carriers with eplerenone can prevent or delay the onset of cardiomyopathy. iPHORECAST has been registered in the clinicaltrials.gov-register (number: NCT01857856).

scholarly journals A model based on clinical parameters to identify myocardial late gadolinium enhancement by magnetic resonance in patients with aortic stenosis: An observational study

2020 ◽  
Vol 9 ◽  
pp. 204800402092240
Author(s):  
Mariya Kuk ◽  
Simon Newsome ◽  
Francisco Alpendurada ◽  
Marc Dweck ◽  
Dudley J Pennell ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Aortic Stenosis ◽  
Risk Stratification ◽  
Myocardial Fibrosis ◽  
Surgical Intervention ◽  
Severe Aortic Stenosis ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Study Patient ◽  
Ventricular Ejection Fraction

Objective With increasing age, the prevalence of aortic stenosis grows exponentially, increasing left heart pressures and potentially leading to myocardial hypertrophy, myocardial fibrosis and adverse outcomes. To identify patients who are at greatest risk, an outpatient model for risk stratification would be of value to better direct patient imaging, frequency of monitoring and expeditious management of aortic stenosis with possible earlier surgical intervention. In this study, a relatively simple model is proposed to identify myocardial fibrosis in patients with a diagnosis of moderate or severe aortic stenosis. Design Patients with moderate to severe aortic stenosis were enrolled into the study; patient characteristics, blood work, medications as well as transthoracic echocardiography and cardiovascular magnetic resonance were used to determine potential identifiers of myocardial fibrosis. Setting The Royal Brompton Hospital, London, UK Participants One hundred and thirteen patients in derivation cohort and 26 patients in validation cohort. Main outcome measures Identification of myocardial fibrosis. Results Three blood biomarkers (serum platelets, serum urea, N-terminal pro-B-type natriuretic peptide) and left ventricular ejection fraction were shown to be capable of identifying myocardial fibrosis. The model was validated in a separate cohort of 26 patients. Conclusions Although further external validation of the model is necessary prior to its use in clinical practice, the proposed clinical model may direct patient care with respect to earlier magnetic resonance imagining, frequency of monitoring and may help in risk stratification for surgical intervention for myocardial fibrosis in patients with aortic stenosis.

scholarly journals Clinical and echocardiographic characteristics of individuals aged 75/76 years old with screening-detected elevated NT-proBNP levels

Open Heart ◽  
2020 ◽  
Vol 7 (1) ◽  
pp. e001200 ◽  
Author(s):  
Faris Al-Khalili ◽  
Katrin Kemp-Gudmundsdottir ◽  
Emma Svennberg ◽  
Tove Fredriksson ◽  
Viveka Frykman ◽  
...  
Keyword(s):  
Ejection Fraction ◽  
Left Atrial Volume ◽  
High Plasma ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Medical Attention ◽  
Ventricular Ejection Fraction ◽  
Reduced Ejection Fraction ◽  
Clinical Investigations ◽  
Screening Study

BackgroundHigh plasma levels of N-terminal pro-B-type natriuretic peptide (NT-proBNP) indicate increased probability of congestive heart failure (CHF) and atrial fibrillation (AF) and are associated with poor prognosis.ObjectiveWe aimed to describe the clinical and echocardiographic characteristics of a population of individuals aged 75/76 years old with NT-proBNP ≥900 ng/L without previously known CHF or AF.MethodsAll individuals aged 75/76 years in the Stockholm region were randomised to a screening study for AF. Half of them were invited to screening. Of those invited, 49.5% agreed to participate. Individuals with NT-proBNP ≥900 ng/L without known CHF were invited for further clinical evaluation.ResultsAmong 6315 participants without AF who had NT-proBNP sampled, 102 without previously known CHF had ≥900 ng/L. Of these, 93 completed further clinical investigations. In the population that was clinically investigated, 53% were female, and the median NT-proBNP was 1200 ng/L. New AF was found in 28 (30%). The NT-proBNP value in this group was not significantly different from those where AF was not detected (median 1285 vs 1178 ng/L). Patients with newly detected AF had larger left atrial volume and higher pulmonary artery pressure than those without AF. Preserved left ventricular ejection fraction (≥50%) was found in 86% of the participants, mid-range ejection fraction (40%–49%) in 3.2% and reduced ejection fraction (<40%) in 10.8%. Thirteen patients (14%) had other serious cardiac disorders that required medical attention.ConclusionElderly individuals with NT-proBNP levels ≥900 ng/L constitute a population at high cardiovascular risk even in the absence of diagnosed CHF or AF, and therefore merit further investigation.

Pathophysiology and causes of cardiac failure

2016 ◽  
Author(s):  
Alexandre Mebazaa ◽  
Mervyn Singer
Keyword(s):  
Stroke Volume ◽  
Diastolic Dysfunction ◽  
Left Ventricular Systolic Dysfunction ◽  
Systolic Dysfunction ◽  
Left Ventricular Diastolic Dysfunction ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Stroke Work ◽  
Compensatory Mechanisms ◽  
Ventricular Ejection Fraction

Organ congestion upstream of the dysfunctional left and/or right ventricle, with preserved stroke volume, is the most frequkeywordent feature of myocardial failure.Clinical manifestations do not necessarily correlate with the degree of left ventricular systolic dysfunction (i.e. left ventricular ejection fraction).Systolic and/or diastolic dysfunction may be present, with systolic dysfunction usually predominating.Pulmonary oedema is related to left ventricular diastolic dysfunction. Compensatory mechanisms (within the heart and/or periphery) may prove paradoxically disadvantageous on ventricular stroke work and stroke volume.

Comprehensive evaluation of structural and functional myocardial impairments in Becker muscular dystrophy using quantitative cardiac magnetic resonance imaging

2018 ◽  
Vol 20 (8) ◽  
pp. 906-915 ◽  
Author(s):  
Benjamin Marty ◽  
Raymond Gilles ◽  
Marcel Toussaint ◽  
Anthony Béhin ◽  
Tanya Stojkovic ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
Muscular Dystrophy ◽  
Comprehensive Evaluation ◽  
Becker Muscular Dystrophy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Functional Impairments ◽  
Ventricular Ejection Fraction ◽  
Native T1

Abstract Aims Becker muscular dystrophy (BMD) is a genetic neuromuscular disease characterized by an alteration of the dystrophin protein. Myocardial involvement is frequent, eventually progressing to a dilated cardiomyopathy, and represents the most common cause of death for this pathology. We performed a comprehensive evaluation of myocardial functional and structural alterations encountered in a large cohort of BMD patients using quantitative cardiac magnetic resonance (CMR) imaging. Methods and results Eighty-eight BMD patients and 26 age-matched volunteers underwent standard cine and tag imaging to assess myocardial function and dyssynchrony, while native T1, T2, and extracellular volume fraction (ECV) were measured for tissue characterization. The left ventricular ejection fraction (LV-EF) was significantly reduced in 26% of the BMD patients. Patients exhibited higher dyssynchrony index than controls (6.94 ± 3.17 vs. 5.09 ± 1.25, P = 0.005). Diastolic dyssynchrony also exists in patients where systolic function was normal. BMD subjects, compared with controls, had significantly higher native T1, T2, and ECV (1183 ± 60 ms vs. 1164 ± 22 ms, 47.5 ± 4.5 ms vs. 45.6 ± 3.4 ms, 0.282 ± 0.050 vs. 0.231 ± 0.027, respectively, P < 0.05). Native T1, T2, and ECV correlated with LV-EF (R = −0.79, −0.70, and −0.71, respectively, P < 0.001) and N-terminal-pro brain natriuretic peptide (R = 0.51, 0.58, and 0.44, respectively, P < 0.001). Conclusion Quantitative CMR represents a powerful tool to evaluate structural and functional impairments in the myocardium of BMD subjects. Native T1, T2, and ECV provided quantitative biomarkers related to inflammation and fibrosis, and could stratify disease severity.

scholarly journals Diastolic dysfunction and mortality in 436  360 men and women: the National Echo Database Australia (NEDA)

2020 ◽  
Author(s):  
David Playford ◽  
Geoff Strange ◽  
David S Celermajer ◽  
Geoffrey Evans ◽  
Gregory M Scalia ◽  
...  
Keyword(s):  
Diastolic Dysfunction ◽  
Diastolic Function ◽  
Cardiovascular Imaging ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Prognostic Impact ◽  
Ventricular Ejection Fraction ◽  
Increased Risk ◽  
American Society ◽  
Related Mortality

Abstract Aims  To examine the characteristics/prognostic impact of diastolic dysfunction (DD) according to 2016 American Society of Echocardiography (ASE) and European Society of Cardiovascular Imaging (ESCVI) guidelines, and individual parameters of DD. Methods and results  Data were derived from a large multicentre mortality-linked echocardiographic registry comprising 436 360 adults with ≥1 diastolic function measurement linked to 100 597 deaths during 2.2 million person-years follow-up. ASE/European Association of Cardiovascular Imaging (EACVI) algorithms could be applied in 392 009 (89.8%) cases; comprising 11.4% of cases with ‘reduced’ left ventricular ejection fraction (LVEF &lt; 50%) and 88.6% with ‘preserved’ LVEF (≥50%). Diastolic function was indeterminate in 21.5% and 62.2% of ‘preserved’ and ‘reduced’ LVEF cases, respectively. Among preserved LVEF cases, the risk of adjusted 5-year cardiovascular-related mortality was elevated in both DD [odds ratio (OR) 1.31, 95% confidence interval (CI) 1.22–1.42; P &lt; 0.001] and indeterminate status cases (OR 1.11, 95% CI 1.04–1.18; P &lt; 0.001) vs. no DD. Among impaired LVEF cases, the equivalent risk of cardiovascular-related mortality was 1.51 (95% CI 1.15–1.98, P &lt; 0.001) for increased filling pressure vs. 1.25 (95% CI 0.96–1.64, P = 0.06) for indeterminate status. Mitral E velocity, septal e’ velocity, E:e’ ratio, and LAVi all correlated with mortality. On adjusted basis, pivot-points of increased risk for cardiovascular-related mortality occurred at 90 cm/s for E wave velocity, 9 cm/s for septal e’ velocity, an E:e’ ratio of 9, and an LAVi of 32 mL/m2. Conclusion  ASE/EACVI-classified DD is correlated with increased mortality. However, many cases remain ‘indeterminate’. Importantly, when analysed individually, mitral E velocity, septal e’ velocity, E:e’ ratio, and LAVi revealed clear pivot-points of increased risk of cardiovascular-related mortality.

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