Inter-center reproducibility of standard and advanced echocardiographic parameters in the EACVI-AFib echo registry.

AIM: we sought to test the inter-center reproducibility of 16 echo laboratories involved in the EACVI-Afib Echo Europe. METHODS: This was done on a dedicated setting of 10 patients with sinus rhythm (SR) and 10 with persistent atrial fibrillation (AF), collected by the Principal Investigator. Images and loops of echo-exams were stored and made available for labs. The tested measurements included main echo-Doppler parameters, global longitudinal strain (GLS) and peak atrial longitudinal strain (PALS). RESULTS: Single measures interclass correlation coefficients (ICCs) of left ventricular mass and ejection fraction were suboptimal in both patients with SR and AF. Among diastolic parameters, ICCs of deceleration time were poor, in particular in AF (=.50). ICCs of left atrial size and function, besides optimal in AF, showed an acceptable despite moderate concordance in SR. ICC of GLS was .81 and .78 in SR and AF respectively. ICCs of PALS were suitable but lower in 4-chamber than in 2-chamber view. By depicting the boxplot of the 16 laboratories, GLS distribution was completely homogeneous in SR, whereas GLS of AF and PALS of both SR and AF presented a limited number of outliers. GLS mean ± SE of the 16 labs was 19.7 ± .36 (95% CI: 18.8-20.4) in SR and 16.5 ± .29 (95% CI: 15.9-17.1) in AF, whereas PALS mean ± SE was 43.8 ± .70 (95% CI: 42.3-45.3) and 10.2 ± .32 (95% CI: 9.5-10.9) respectively. CONCLUSION: While the utilization of some standard-echo variables should be discouraged in registries, the application of GLS and PALS could be largely promoted because their superior reproducibility, even in AF.

Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in 2008 in an American-Italian family with scapuloperoneal myopathy, FHL1 gene encodes four-and-a-half LIM domains 1 proteins which are involved in sarcomere formation, assembly and biomechanical stress sensing both in cardiac and skeletal muscle, and its mutations are responsible for a large spectrum of neuromuscular disorders (mostly myopathies) and cardiac disease, represented by HCM, either isolated, or in conjunction with neurologic and skeletal muscle impairment. We thereby report a novel mutation variant in FHL1 structure, associated with HCM and type 6 Emery-Dreifuss muscular dystrophy (EDMD). CASE PRESENTATION: We describe the case of a 40 year old male patient, who was referred to our department for evaluation in the setting of NYHA II heart failure symptoms and was found to have HCM. The elevated muscular enzymes raised the suspicion of a neuromuscular disease. Rigid low spine and wasting of deltoidus, supraspinatus, infraspinatus and calf muscles were described by the neurological examination. Electromyography and muscle biopsy found evidence of chronic myopathy. Diagnosis work-up was completed by next-generation sequencing genetic testing which found a likely pathogenic mutation in the FHL1 gene (c.157-1G > A, hemizygous) involved in the development of X-linked EDMD type 6. CONCLUSION: This case report highlights the importance of multimodality diagnostic approach in a patient with a neuromuscular disorder and associated hypertrophic cardiomyopathy by identifying a novel mutation variant in FHL1 gene. Raising awareness of non-sarcomeric gene mutations which can lead to HCM is fundamental, because of diagnostic and clinical risk stratification challenges.

Quality of life status determinants in hypertrophic cardiomyopathy as evaluated by the Kansas City Cardiomyopathy Questionnaire.

PURPOSE: The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this population. METHODS: This was a cross-sectional single-center study of health-related HRQoL that included 91 consecutive patients with HCM. Evaluation was performed based on a comprehensive protocol that included the recommended diagnostic studies, as well as administration of the translated validated version of the Kansas City Cardiomyopathy Questionnaire (KCCQ) (CV Outcomes Inc) as a health status measure. RESULTS: The cohort included 52 (57%) males, median age 58 (20-85) years. The median global KCCQ score was 67 (12.5-100) corresponding to a moderate impairment in HRQoL. There was an inverse correlation between the median global KCCQ score and NYHA class (Kendall's tau b coefficient r - 0.33, p = 0.001). Patients with pulmonary hypertension (PHT), defined as resting pulmonary artery systolic pressure of ≥ 45 mmHg, presented a significantly worse HRQoL as compared to those without PHT (median KCCQ score 56.2 vs 77.5, p = 0.013). The KCCQ score mildly correlated with age (r - 0.18, p = 0.014), history of syncope (r - 0.18, p = 0.045), estimated glomerular filtration rate (eGFR) (r 0.31, p < 0.001), plasmatic creatinine (r - 0.18, p = 0.017) and urea levels (r - 0.27, p < 0.001), left ventricular (LV) end-systolic dimensions (r - 0.18, p = 0.014), maximal provoked intraventricular gradient (r 0.20, p = 0.039), LV ejection fraction (r 0.15, p = 0.04), average E/e' (r - 0.16, p = 0.039), pulmonary acceleration time (r 0.21, p = 0.007), pulmonary artery systolic pressure (r - 0.20, p = 0.016). In ordinal regression, the independent predictors of HRQoL were NYHA class and eGFR. CONCLUSIONS: Patients with HCM and HF present a moderate degree of alteration in HRQoL. This is especially true for patients with PHT and more severe functional impairment. Renal failure and NYHA class are potential markers of HRQoL in clinical practice.

Value of ejection fraction/velocity ratio in the prognostic stratification of patients with asymptomatic aortic valve stenosis.

BACKGROUND: The ejection fraction/velocity ratio (EFVR) is a simple function-corrected index of aortic stenosis severity with a good correlation with aortic valve area measured using the Gorlin formula at cardiac catheterization. It is calculated by dividing left ventricular ejection fraction (LVEF) to 4 × (peak jet velocity)2 . OBJECTIVE: Our aim was to evaluate the value of EFVR in predicting adverse events in patients with asymptomatic aortic stenosis. METHODS: We analyzed the clinical and echocardiographic data of 216 asymptomatic patients with at least moderate aortic stenosis (AVA ≤ 1.5 cm2 ). The primary end-point was cardiovascular death or aortic valve replacement. RESULTS: There were 119 (55%) men and mean age was 68 ± 10 years. The mean follow-up time was 4.2 ± 1.6 years (median 4.3 years). During follow-up, the composite end-point of death or aortic valve replacement was reached in 105 patients (49%). Using multivariate Cox regression analysis, EFVR and valvulo-arterial impedance emerged as independent variables associated with outcome (P < 0.001 and P = 0.001, respectively). In the subgroup of patients with severe aortic stenosis (AVA < 1 cm2 ), EFVR ≤ 0.9 was associated with an increased hazard ratio for the composite end-point of mortality and aortic valve replacement (HR 2.14, 95% CI: 1.15-4.0, P = 0.017), even after adjusting for aortic valve area. CONCLUSIONS: In patients with asymptomatic moderate to severe aortic stenosis, EFVR is useful for risk stratification. Our results suggest that incorporating EFVR in the evaluation of patients with asymptomatic aortic stenosis might help identify those who are most likely to benefit from early elective aortic replacement.

The left ventricle in aortic stenosis--imaging assessment and clinical implications.

Aortic stenosis has an increasing prevalence in the context of aging population. In these patients non-invasive imaging allows not only the grading of valve stenosis severity, but also the assessment of left ventricular function. These two goals play a key role in clinical decision-making. Although left ventricular ejection fraction is currently the only left ventricular function parameter that guides intervention, current imaging techniques are able to detect early changes in LV structure and function even in asymptomatic patients with significant aortic stenosis and preserved ejection fraction. Moreover, new imaging parameters emerged as predictors of disease progression in patients with aortic stenosis. Although proper standardization and confirmatory data from large prospective studies are needed, these novel parameters have the potential of becoming useful tools in guiding intervention in asymptomatic patients with aortic stenosis and stratify risk in symptomatic patients undergoing aortic valve replacement.This review focuses on the mechanisms of transition from compensatory left ventricular hypertrophy to left ventricular dysfunction and heart failure in aortic stenosis and the role of non-invasive imaging assessment of the left ventricular geometry and function in these patients.

Impact of associated significant aortic regurgitation on left ventricular remodeling and hemodynamic impairment in severe aortic valve stenosis.

OBJECTIVES: The left ventricular (LV) response to combined pressure and volume overload [aortic stenosis (AS) and aortic regurgitation (AR)] versus pressure overload (isolated AS)has not been systematically studied. We aimed to assess LV remodeling, functional and hemodynamic consequences inpatients with mixed aortic valve disease versus patients with isolated AS. METHODS: We enrolled 181 patients (67 ± 9 years,109 men) with severe AS (aortic valve area indexed to body surface area <0.6 cm 2 /m 2 ) who underwent preoperative cardiac catheterization and a complete echocardiogram. Pulmonary capillary wedge pressure (PCWP), LV end-diastolic pressure (LVEDP) and pulmonary artery pressure (PAP) were measured. RESULTS: One hundred and ten patients (group A)had isolated severe AS (AR 0­1) and 71 patients (group B)had mixed aortic valve disease (severe AS plus AR 2­3). Patients in group B were younger and in a higher New York Heart Association class (p < 0.01). Severity of AS was similar in both groups. Patients in group B had a higher indexed LV mass, a lower LV ejection fraction, and higher PCWP, LVED Pand PAP (all p ≤ 0.01). CONCLUSIONS: Patients with severe AS and significant AR are more symptomatic than patients with isolated severe AS. The increased burden due to the combined lesion induces pronounced LV remodeling and more severe hemodynamic consequences.

Sclerodermic Cardiomyopathy-A State-of-the-Art Review.

Systemic sclerosis (SSc) is a chronic autoimmune disorder with unknown triggering factors, and complex pathophysiologic links which lead to fibrosis of skin and internal organs, including the heart, lungs, and gut. However, more than 100 years after the first description of cardiac disease in SSc, sclerodermic cardiomyopathy (SScCmp) is an underrecognized, occult disease with important adverse long-term prognosis. Laboratory tests, electrocardiography (ECG) and cardiovascular multimodality imaging techniques (transthoracic 2D and 3D echocardiography, cardiac magnetic resonance (CMR), and novel imaging techniques, including myocardial deformation analysis) provide new insights into the cardiac abnormalities in patients with SSc. This state-of-the-art review aims to stratify all the cardiac investigations needed to diagnose and follow-up the SScCmp, and discusses the epidemiology, risk factors and pathophysiology of this important cause of morbidity of the SSc patient.

Left atrial strain determinants and clinical features according to the heart failure stages. New insight from EACVI MASCOT registry.

Few studies analyzed left atrial (LA) peak atrial longitudinal strain (PALS) determinants, particularly across heart failure (HF) stages. We aimed to analyze the pathophysiological and clinical PALS correlates in a large multicentric prospective study. This is a multicenter prospective observational study enrolling 745 patients with HF stages. Data included PALS and left ventricular global longitudinal strain (LV-GLS). Exclusion criteria were: valvular prosthesis; atrial fibrillation; cardiac transplantation; poor acoustic window. Median global PALS was 17% [24-32]. 29% of patients were in HF-stage 0/A, 35% in stage-B, and 36% in stage-C. Together with age, the echocardiographic determinants of PALS were LA volume and LV-GLS (overall model R2 = 0.50, p < 0.0001). LV-GLS had the strongest association with PALS at multivariable analysis (beta: -3.60 ± 0.20, p < 0.0001). Among HF stages, LV-GLS remained the most important PALS predictor (p < 0.0001) whereas age was only associated with PALS in lower HF-stage 0/A or B (R = - 0.26 p < 0.0001, R = - 0.23 p = 0.0001). LA volume increased its association to PALS moving from stage 0/A (R = - 0.11; P = 0.1) to C (R = - 0.42; P < 0.0001). PALS was the single most potent echocardiographic parameter in predicting the HF stage (AUC for B vs. 0/A 0.81, and AUC vs. 0/A for C 0.76). PALS remained independently associated with HF stages after adjusting for ejection fraction, E/e' ratio, and mitral regurgitation grade (p < 0.0001). Although influenced by LV-GLS and LA size across HF stages, PALS is incrementally and independently associated with clinical status. LA function may reflect a substantial part of the hemodynamic consequences of ventricular dysfunction.

Stage-related effect of statin treatment on the progression of aortic valve sclerosis and stenosis.

It has been suggested that statins could slow the progression of aortic stenosis (AS), but this hypothesis is still debated and has not been validated in large series of patients by long-term follow-up studies. Moreover, information about the role of statins in patients with different degrees of severity of AS is scarce. From our 1988 to 2007 echocardiographic database, we retrospectively identified all asymptomatic patients with aortic valve sclerosis (abnormal irregular thickening of the aortic valve with a peak aortic velocity [Vmax] > or =1.5 and <2 m/s), mild AS (Vmax > or =2 and <3 m/s), and moderate AS (Vmax > or =3 and <4 m/s), age > or =50 years, and with > or =2 echocardiographic studies > or =2 years apart. Exclusion criteria were moderate/severe aortic regurgitation, bicuspid aortic valve, rheumatic valve disease, and ejection fraction <40%. The final study population consisted of 1,046 patients (mean age 70 +/- 8 years, 587 men); 309 were treated with statins. Mean follow-up duration was 5.6 +/- 3.2 years (range 2 to 19). Progression of AS was slower in patients receiving statins compared with untreated patients in aortic sclerosis (0.04 +/- 0.09 vs 0.07 +/- 0.10 m/s/year, p = 0.01) and mild AS (0.09 +/- 0.15 vs 0.15 +/- 0.15 m/s/year, p = 0.001), but not in moderate AS (0.21 +/- 0.18 vs 0.22 +/- 0.15 m/s/year, p = 0.70). In multivariate analysis only statin therapy, initial Vmax, and dialysis were independently related to progression of aortic valve disease. In conclusion, in a large series of patients with long-term follow-up, statins were effective in slowing the progression of aortic valve disease in aortic sclerosis and mild AS, but not in moderate AS. These results suggest that statin therapy should be taken into consideration in the early stages of this common disease.

Obesity, Cardiac Remodeling, and Metabolic Profile: Validation of a New Simple Index beyond Body Mass Index.

AIM: The body mass index (BMI), the most used anthropometric index of obesity, has an important limitation, not taking into consideration the distribution of body fat. We developed a new simple index: the waist-corrected BMI (wBMI), calculated as waist circumference (WC) × BMI. The study aim was to assess the role of wBMI, compared to BMI, WC, and Waist-to-Height Ratio (WHtR) in predicting abnormal cardiac geometry, insulin resistance, increased arterial stiffness, and dyslipidemia. METHODS: This was a cross-sectional study that included 805 patients referred to our Department of Preventive Cardiology for risk factors evaluation and treatment. Eleven echographic and laboratory parameters were determined, and receiver operating characteristic (ROC) curves were derived. Areas under ROC curves (AUC) were used to assess the accuracy of the four indexes to identify unfavorable characteristics. RESULTS: There were 29% overweight, 59% obese, and 77% hypertensive patients. Of 11 echographic and laboratory parameters, wBMI, BMI, WHtR, and WC had the largest AUC for identifying 3, 1, 6, and 1 parameters, respectively, but with overlapping 95% confidence intervals. wBMI had the largest AUC for increased arterial stiffness and insulin resistance; also, it was superior to BMI for increased left atrial volume, relative wall thickness, and triglyceride level. CONCLUSIONS: In a large population with a high prevalence of obesity and hypertension, all four indexes were associated with unfavorable characteristics. wBMI has the theoretical advantage of taking into account simultaneously the global fat mass and distribution and might be useful for a better cardiovascular risk assessment.

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

A 25-year-old woman with a five years history of syncope, mild left ventricular hypertrophy and moderately enlarged atria, was diagnosed with third degree atrioventricular heart block alternating with atrioventricular heart block 2:1, and received a dual chamber pacemaker. After three years of evolution, she developed atrial fibrillation, marked biatrial enlargement, severely depressed longitudinal myocardial velocities, associated with mild girdle weakness and slight increase in creatine kinase level. The diagnosis of restrictive cardiomyopathy with mild skeletal myopathy imposed the screening for a common etiology. Skeletal muscle biopsy revealed the morphological picture of myofibrillar myopathy with sarcoplasmic aggregates, immunoreactive for desmin and other ectopic proteins on immunohistochemistry, appearing as granulofilamentous material at ultrastructural level. Western blot analysis confirmed the desmin overexpression. Genetic testing identified a heterozygous missense variant DES rs869025381, c.1297C>A, p.(Pro433Thr), not previously reported. This is not only the first confirmed Romanian patient with myofibrillar myopathy with clinical features of severe restrictive cardiomyopathy associated with mild skeletal myopathy, but also a case which adds up to the known mutational spectrum in desminopathy.

Imaging and histology in the diagnosis of multiple papillary fibroelastomas in a patient with hypertrophic obstructive cardiomyopathy. Case report.

Papillary fibroelastomas (PFEs) are one of the most frequent primary cardiac tumors and occur more often in patients with hypertrophic obstructive cardiomyopathy (HOCM). PFEs have been linked to an increased risk of neurological events. We report a case of a 59-year-old woman with HOCM in whom echocardiography (transthoracic and transesophageal, using 2D and 3D techniques) revealed multiple masses in various locations in the left cardiac chambers. Surgical excision of the cardiac tumors and aortic valve replacement was performed and the pathologic report confirmed the diagnosis of PFEs. Patient followup using ultrasonography is crucial since recurrence is a possibility. Current cardiac ultrasound techniques are essential for diagnosing and for guiding the management of these conditions.

EACVI appropriateness criteria for the use of transthoracic echocardiography in adults: a report of literature and current practice review.

The European Association for Cardiovascular Imaging (EACVI) has outlined the rationale for setting appropriate use criteria (AUC) in cardiovascular (CV) imaging. Transthoracic echocardiography (TTE) is the most common imaging modality in CV disease and is a central tool in diagnosis, follow-up, management planning and intervention. The purpose of AUC is to inform referrers, both to avoid under-use, which may result in incomplete or incorrect diagnosis and treatment, and also over-use, which may delay correct diagnosis, lead to 'treatment cascade', and wastes resources. The first step in defining AUC for TTE in the adult has been for a panel of experts in echocardiography to review the evidence, guidelines, recommendations, and position papers from the European Society of Cardiology, EACVI and other specialist societies, and current state-of-the-art clinical practice. The attached document summarizes this work, which will be used to under-pin the development of AUC.

Guía ESC 2016 sobre el diagnóstico y tratamiento de la fibrilación auricular, desarrollada en colaboración con la EACTS / No disponible

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Different patterns of adaptation of the right ventricle to pressure overload: a comparison between pulmonary hypertension and pulmonary stenosis.

BACKGROUND: The study was designed to compare RV morphological and functional parameters derived from conventional and myocardial deformation echocardiography in two instances of right heart pressure overload: pulmonary arterial hypertension (PAH) and pulmonary stenosis (PS). METHODS: Sixty-two individuals were included: 22 patients with pulmonary arterial hypertension (PAH), 19 patients with PS and 21 healthy individuals who served as a control group. All patients had clinical evaluation with 6-minute walking test, standard and two-dimensional strain echocardiography and B-type natriuretic peptide evaluation. RESULTS: At similar levels of pressure overload (RV systolic pressure, 88.2 ± 31.5 vs 73.4 ± 34.9 mm Hg; P = NS) the right ventricles of patients with PS were less dilated (RV end-diastolic diameter, 31.7 ± 3.7 vs 43.7 ± 10.5 mm; P < .001) and performed significantly better than those of patients with PAH (RV strain, -27.4 ± 5.8% vs 16.2 ± 7.9%; RV fractional area change, 51.1 ± 9.2% vs 29.1 ± 11.3%; P < .001). Although some of the RV functional parameters were comparable with those in healthy individuals, strain rate showed lower values, suggesting subclinical longitudinal dysfunction in patients with PS. Myocardial stress biomarkers were correlated with RV systolic pressure only in patients with PAH (r = 0.64, P = .03), not in those with PS (r = 0.22, P = .50). CONCLUSIONS: At similar levels of pressure overload, the right ventricle is less dilated and performs better in patients with PS compared with those with PAH.