Search

International audience; ObjectivesThis study aimed at investigating the additional contribution of coronary artery calcium (CAC) score to SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) risk equation (SAFEHEART-RE) for cardiovascular risk prediction in heterozygous familial hypercholesterolemia (HeFH).BackgroundCommon cardiovascular risk equations are imprecise for HeFH. Because of the high phenotype variability of HeFH, CAC score could help to better stratify the risk of atherosclerotic cardiovascular disease (ASCVD).MethodsREFERCHOL (French Registry of Familial Hypercholesterolemia) and SAFEHEART are 2 ongoing national registries on HeFH. We analyzed data from primary prevention HeFH patients undergoing CAC quantification. We used probability-weighted Cox proportional hazards models to estimate HRs. Area under the receiver-operating characteristic curve (AUC) and net reclassification improvement (NRI) were used to compare the incremental contribution of CAC score when added to the SAFEHEART-RE for ASCVD prediction. ASCVD was defined as coronary heart disease, stroke or transient ischemic attack, peripheral artery disease, resuscitated sudden death, and cardiovascular death.ResultsWe included 1,624 patients (mean age: 48.5 ± 12.8 years; men: 45.7%) from both registries. After a median follow-up of 2.7 years (interquartile range: 0.4-5.0 years), ASCVD occurred in 81 subjects. The presence of a CAC score of >100 was associated with an HR of 32.05 (95% CI: 10.08-101.94) of developing ASCVD as compared to a CAC score of 0. Receiving-operating curve analysis showed a good performance of CAC score alone in ASCVD prediction (AUC: 0.860 [95% CI: 0.853-0.869]). The addition of log(CAC + 1) to SAFEHEART-RE resulted in a significantly improved prediction of ASCVD (AUC: 0.884 [95% CI: 0.871-0.894] for SAFEHEART-RE + log(CAC + 1) vs AUC: 0.793 [95% CI: 0.779-0.818] for SAFEHEART-RE; P < 0.001). These results were confirmed also when considering only hard cardiovascular endpoints. The addition of CAC score was associated with an estimated overall net reclassification improvement of 45.4%.ConclusionsCAC score proved its use in improving cardiovascular risk stratification and ASCVD prediction in statin-treated HeFH.

Despite the availability of lipid-lowering therapies (LLTs) that are safe and effective, the overall rate of low-density lipoprotein cholesterol (LDL-C) control at a population level in real-life studies is low. Higher-intensity treatment, earlier intervention, and longer-term treatment have all been shown to improve outcomes. However, in clinical practice, actual exposure to LLT is a product of the duration and intensity of, and adherence to, the treatment. To increase exposure to LLTs, the European Society of Cardiology guidelines recommended a stepwise optimization of LLTs by increasing statin intensity to the maximally tolerated dose, with subsequent addition of ezetimibe and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors. Evidence from randomized controlled trials performed in a range of patients suggested that adding ezetimibe to statins rather than doubling the statin dose resulted in significantly more patients at LDL-C goal and significantly fewer patients discontinuing treatment because of adverse events. In addition, data showed that combination treatments effectively increased exposure to LLT. Despite these data and recommendations, optimization of LLT is often limited to increasing statin dose. Therapeutic inertia and poor treatment adherence are significant and prevalent barriers to increasing treatment exposure. They are known to be influenced by pill burden and complexity of treatment. Single-pill combinations provide a strategic approach that supports the intensification of treatment without increasing pill burden or treatment complexity. Single-pill combinations, compared with free associations, have been shown to increase the adherence to LLT and the percentage of patients at LDL-C goal.

Myocardial strain analysis could provide additional information to left ventricular ejection fraction (LVEF) in nonischemic dilated cardiomyopathy (NIDC). Our aim was to analyze the feasibility of left ventricular strain evaluation using cardiac magnetic resonance feature tracking (FT) in NIDC, and to determine its clinical and prognostic impact.We retrospectively included consecutive patients with NIDC who underwent cardiac magnetic resonance. Left ventricular global longitudinal, circumferential and radial strain were obtained from standard cine sequences using FT analysis software. We evaluated their association with a composite endpoint (heart failure, implantable cardioverter-defibrillator in secondary prevention, or death).FT analysis could be performed in all of the 98 patients (mean age 68±13 years, 72% men). Intra- and interobserver concordance was good for global longitudinal and circumferential strain but was worse for radial strain. Global circumferential strain was independently associated (OR, 1.16; P=.045) with LVEF normalization during follow-up and was the only morphological parameter independently associated with the composite endpoint (OR, 1.15; P=.038). A cutoff value-8.2% was able to predict the incidence of this event during follow-up (log-rank 4.6; P=.032).Left ventricular strain analysis with FT is feasible and reproducible in NIDC. Global circumferential strain was able to predict LVEF recovery and the appearance of major cardiovascular events during follow-up.

Heterozygous familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular disease. Semi-automated plaque characterization (SAPC) by coronary computed tomographic angiography (CTA) provides information regarding coronary plaque burden and plaque characterization. Our aim was to quantify and characterize the coronary plaque burden of patients with FH using SAPC analysis and to identify which factors are related to plaque burden and plaque characteristics. A second aim was to analyse the prognostic implications of these parameters.Two hundred and fifty-nine asymptomatic individuals with molecularly determined FH were enrolled in this follow-up cohort study and underwent a coronary CTA analysed with SAPC.Mean follow-up time after coronary CTA was 3.9 ± 2 years. Mean age was 46.9 (10.7) years (130 women, 50.2%). Median plaque burden was 25.0% (19.0-29.0), non-calcified plaque burden 22.83% (17.94-26.88), calcified plaque-burden 1.12% (0.31-2.86) and CCS 8.9 (0-93). Five-year risk was independently related to plaque burden, non-calcified plaque burden, calcified plaque burden and coronary calcium score (B:3.75, 95%CI:2.92-4.58; p 0.001, B:2.9, 95%CI:2.15-3.66; p 0.001, B:0.75, 95%CI 0.4-1.1; p 0.001 and B:82.2, 95%CI:49.28-115.16; p 0.001 respectively). During follow-up, there were 15 (5.81%) nonfatal events and 1 (0.4%) fatal event. Plaque burden was significantly related to event-free survival during follow-up (HR:1.11; 95%CI:1.05-1.18; p 0.001).Coronary atherosclerosis and its qualitative components may be quantified by means of SAPC in patients with FH. Plaque burden, calcified plaque burden and non-calcified plaque burden were independently related to the estimated cardiovascular risk. Plaque burden was also related to prognosis.

Introduction and objectives Severe pericardial effusion (PE) is a potentially severe clinical entity. Idiopathic PE accounts for one-third of patients with severe PE. However, evidence-based treatments are scarce. The aim of the study was to investigate whether pericardial drainage is associated with prognostic improvement, and to evaluate the influence of anti-inflammatory treatment on prognosis. Methods All severe PE diagnosed between 2003 and 2017 were retrospectively collected. Of them, those classified as idiopathic were selected (N = 153). Patients were divided in 2 groups: those who underwent pericardial drainage (N = 105) and patients who did not (N = 48). In addition, the study population was divided according to the anti-inflammatory drug (AD) administration. Median follow-up was 47.7 months. Results There were no significant differences in 2-year mortality between patients who underwent pericardial drainage and those who did not. There were also no significant differences in the number of hospitalizations for heart failure between the 2 study groups. However, mortality was significantly lower among patients who received AD compared to those who did not receive these agents. Only treatment with AD (HR, 0.24; P = .002) remained independently associated with lower mortality in the multivariate analysis. AD treatment was associated with a 70% reduction in mortality (HR, 0.30; 95%CI, 0.10–0.90; P Conclusions Pericardial drainage was not associated with a better prognosis of patients with severe idiopathic PE, in terms of 2-year mortality, heart failure admissions, or the combined endpoint. AD treatment was found to be an independent protective factor for mortality in this patient population.

Purpose of review Degenerative aortic stenosis (AS) is one of the most prevalent heart valve diseases in the adult population. The understanding of AS pathophysiology and involved risk factors have recently undergone a great advance, with low-density lipoprotein cholesterol (LDL-C), lipoprotein (a) [Lp(a)] and other clinical conditions taking on a relevant role. Although little is known about the prevention of AS, we can progressively find more evidence of the possible use of drugs to control risk factors as tools that may delay the progression to severe AS and aortic valve replacement. Recent findings Several factors have shown to be solid predictors of the development of AS. Mendelian randomization and observational studies on risk factors specifically lipid factors, such as hypercholesterolemia, Lp(a), proprotein convertase subtilisin/kexin type 9 and hypertension have provided meaningful new information. The SAFEHEART study has significantly contributed to define the role of LDL-C and Lp(a) in AS. Summary In this review we discuss the interrelationship of dyslipidemia, especially hypercholesterolemia and Lp(a) in the development and prognosis of valvular AS. New imaging tools may contribute to its early detection. Future studies with proprotein convertase subtilisin/kexin type 9 inhibitors and specific therapies to lower Lp(a) might contribute to delay AS development.

Familial hypercholesterolemia (FH) is a frequent disorder associated with premature atherosclerotic cardiovascular disease. Different clinical diagnosis criteria are available, and cost of genetic testing has been reduced in the last years; however, most cases are not diagnosed worldwide. Patients with FH are at high cardiovascular risk and the risk can be reduced with lifelong lifestyle and pharmacological treatment. Statins and ezetimibe are available as generic drugs in most countries reducing the cost of treatment. However, the use of high-intensity statins combined with ezetimibe and PCSK9 inhibitors, if necessary, is low for different reasons that contribute to a high number of patients not reaching LDL-C targets according to guidelines. On the other hand, cardiovascular risk varies greatly in families with FH; therefore, risk stratification strategies including cardiovascular imaging is another element to consider for improving care and management of FH. There are numerous barriers depending on the awareness, knowledge, perception of risk, management and care of patients living with FH that impact in the diagnosis and treatment of the disorder. In this contemporary review, we analyze different barriers in the diagnosis and care of patients to improve patients' care and prevention of atherosclerotic cardiovascular disease and describe recent advances and strategies to improve the gaps in the care of FH, including global collaboration and advocacy.

[Background and aims]: Patients with familial hypercholesterolaemia (FH) may require proprotein convertase subtilisin/kexin-type 9 (PCSK9) mAb as add-on therapy to achieve LDL-cholesterol (LDL-C) goals. However, the current cost of these therapies means that choosing suitable patients is based on consensus or clinical judgement rather than a quantitative risk assessment. We used the SAFEHEART Risk Equation (RE) to estimate the number needed to treat (NNT) at different risk thresholds and baseline LDL-C to identify those FH patients more likely to derive the greatest benefit from PCSK9 mAb., [Methods]: Five-year event rates were calculated using the SAFEHEART-RE for every patient, overall and across LDL-C strata. A 60% reduction of LDL-C after theoretical treatment with PCSK9 mAb was assumed. Individual absolute risk simulating the effects of PCSK9 inhibition was calculated using the SAFEHEART-RE and, in a similar way, by using the Cholesterol Treatment Trialists’ (CTT) Collaboration criteria. Absolute risk reduction and NNTs were calculated., [Results]: Of the total SAFEHEART population, 2,153 were FH cases aged 18 years or older, on maximum tolerated lipid lowering treatment. NNTs were dependent of both baseline predicted risk and baseline LDL-C level ranging from 44 to 17 for those with 5-year risk of ≥1 to ≥5. The smallest NNT (12) was observed among those with 5-year risk of ≥5% and LDL-C ≥160 mg/dl. Using the CTT criteria produced similar results., [Conclusions]: The SAFEHEART-RE may provide a useful quantitative tool for rationalising the selection of FH patients who might derive greater absolute benefits from PCSK9 mAb., This work was supported by Fundación Hipercolesterolemia Familiar; Grant G03/181 and FIS PI12/01289 from Instituto de Salud Carlos III (ISCIII), Grant 08-2008 Centro Nacional de Investigaciones Cardiovasculares (CNIC).

Background and aims Heterozygous familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C). The magnitude of atherosclerotic cardiovascular disease (ASCVD) risk in FH patients is highly variable, and this can result from genetic factors. The aim of our study was to characterize whether polymorphisms in VEGFR2 and OPG genes could influence the expression of ASCVD in FH patients. Methods We studied 318 FH patients from the SAFEHEART registry, without clinical diagnosis of ASCVD. A coronary tomographic angiography (CTA) was performed to determine and evaluate the presence of coronary stenosis and coronary artery calcium, as measured by coronary calcium score (CCS). Genotyping of OPG rs2073618 and VEGFR2 rs2071559 polymorphisms was performed using TaqMan 5′-exonuclease allelic discrimination assays. Results Homozygous GG genotype and G allele of VEGFR2 rs2071559 polymorphism were associated with decreased risk of developing coronary artery stenosis. In the analysis of OPG rs2073618 and VEGFR2 rs2071559 polymorphisms, according to the presence of coronary artery calcium, we found significant differences in both polymorphisms. Homozygous GG genotype and G allele of VEGFR2 rs2071559 polymorphism were associated with decreased risk of accumulation of coronary artery calcium measured by CCS in CTA. Moreover, being a carrier of the GG genotype and G allele of the OPG rs2073618 polymorphism increased the risk of the presence of coronary artery calcium measured by CCS in CTA. Conclusions Polymorphisms in VEGFR2 and OPG genes modify the risk of ASCVD in FH patients.

Background: Current consensus recommends extended vascular investigation in patients with spontaneous coronary artery dissection (SCAD). We here report our experience with the use of magnetic resonance angiography (MRA) for screening extra-coronary arteriopathy in patients presenting with SCAD. Methods: Patients presenting with SCAD in a Spanish centre underwent prospective contrast-enhanced MRA to assess the cephalic and abdominopelvic arterial territories. Fibromuscular dysplasia (FMD) was diagnosed following European consensus criteria. Other vascular abnormalities were recorded separately. Two vascular radiologists supervised the acquisitions and independently analysed the results for all cases. Results: Forty patients with SCAD [mean age 50.9±8.6 years, 90% (n=36) women] were included in the study, 12 patients declined to participate and 5 were excluded (metallic implanted devices). All enrolled patients underwent the screening protocol without complications. MRA demonstrated at least one extra-coronary vascular abnormality in 16 patients (40%): 5 (12.5%) were diagnosed with FMD, 6 (15%) showed arterial tortuosity, 3 (7.5%) had non-FMD focal stenoses, and 2 (5%) were found to have small aneurysms at the celiac trunk and splenic artery. No intracranial aneurysms were detected. At a mean follow-up of 4±3 years from the index episode, two cases experienced SCAD recurrences, one in a patient with FMD and the other one in a patient with arterial tortuosity. No deaths or strokes occurred. Conclusions: Systematic extended vascular study with MRA was feasible and demonstrated associated extra-coronary arteriopathy in a substantial proportion of patients presenting with SCAD; however, none required additional intervention or led to vascular events. MRA, being a radiation-free modality, may be the preferred method for screening extracoronary arteriopathy in SCAD, a condition primarily affecting young and middle-age women sensitive to the risks of radiation.

Objective— Heterozygous familial hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerotic cardiovascular disease. Circulating microvesicles (cMV) are released when cells are activated. We investigated whether cMV could provide information on coronary calcification and atherosclerosis in FH patients. Approach and Results— Eighty-two patients (mean of 44±9 years old) with molecular diagnosis of heterozygous FH and asymptomatic cardiovascular disease were investigated. Atherosclerotic plaque characterization was performed by computed tomography angiography, and Agatston coronary calcium score and plaque composition sum were calculated. cMV were quantified by flow cytometry using AV (annexin V) and cell surface-specific antibodies. Of the 82 FH patients, 48 presented atherosclerotic plaque. Patients with atherosclerosis were men and older in a higher percentage than patients without atherosclerotic plaque. FH patients with atherosclerotic plaque showed higher levels of total AV + cMV, cMV AV + from platelet origin, from granulocytes and neutrophils, and cMV AV +/− from endothelial cells than FH-patients without atherosclerotic plaque. Plaque composition sum correlated with platelet- and endothelial-derived cMV, and Agatston coronary calcium score correlated with granulocyte-, platelet-, and endothelial-derived cMV. Receiver operating characteristic curve analyses indicated that the cluster of platelet-, granulocyte-, neutrophil, and endothelial-derived cMV considered together, added significant predictive value to the specific SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) risk equation for plaque presence (area under the curve=0.866, 95% CI, 0.775–0.958; P P =0.030 for the increment of the area under the curve). Conclusions— Endothelial-, granulocyte-, neutrophil- and platelet-derived cMV discriminate and map coronary atherosclerotic plaque and calcification in asymptomatic patients with FH. Liquid biopsy of cMV may be a surrogate biomarker of coronary atherosclerotic plaque burden in FH patients.

Background Familial hypercholesterolemia (FH) and elevated lipoprotein(a) [Lp(a)] are inherited disorders associated with premature atherosclerotic cardiovascular disease (ASCVD). Cascade testing is recommended for FH, but there are no similar recommendations for elevated Lp(a). Objectives This study investigated whether testing for Lp(a) was effective in detecting and risk stratifying individuals participating in an FH cascade screening program. Methods Family members (N = 2,927) from 755 index cases enrolled in SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) were tested for genetic FH and elevated Lp(a) via an established screening program. Elevated Lp(a) was defined as levels ≥50 mg/dl. The authors compared the prevalence and yield of new cases of high Lp(a) in relatives of FH probands both with and without high Lp(a), and prospectively investigated the association between elevated Lp(a) and ASCVD events among family members. Results Systematic screening from index cases with both FH and elevated Lp(a) identified 1 new case of elevated Lp(a) for every 2.4 screened. Opportunistic screening from index cases with FH, but without elevated Lp(a), identified 1 individual for 5.8 screened. Over 5 years’ follow-up, FH (hazard ratio [HR]: 2.47; p = 0.036) and elevated Lp(a) (HR: 3.17; p = 0.024) alone were associated with a significantly increased risk of experiencing an ASCVD event or death compared with individuals with neither disorder; the greatest risk was observed in relatives with both FH and elevated Lp(a) (HR: 4.40; p Conclusions Testing for elevated Lp(a) during cascade screening for FH is effective in identifying relatives with high Lp(a) and heightened risk of ASCVD, particularly when the proband has both FH and elevated Lp(a).

Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Data were assessed overall and by WHO regions, sex, and index versus non-index cases. Findings Of the 61 612 individuals in the registry, 42 167 adults (21 999 [53.6%] women) from 56 countries were included in the study. Of these, 31 798 (75.4%) were diagnosed with the Dutch Lipid Clinic Network criteria, and 35 490 (84.2%) were from the WHO region of Europe. Median age of participants at entry in the registry was 46.2 years (IQR 34.3-58.0); median age at diagnosis of familial hypercholesterolaemia was 44.4 years (32.5-56.5), with 40.2% of participants younger than 40 years when diagnosed. Prevalence of cardiovascular risk factors increased progressively with age and varied by WHO region. Prevalence of coronary disease was 17.4% (2.1% for stroke and 5.2% for peripheral artery disease), increasing with concentrations of untreated LDL cholesterol, and was about two times lower in women than in men. Among patients receiving lipid-lowering medications, 16 803 (81.1%) were receiving statins and 3691 (21.2%) were on combination therapy, with greater use of more potent lipid-lowering medication in men than in women. Median LDL cholesterol was 5.43 mmol/L (IQR 4.32-6.72) among patients not taking lipid-lowering medications and 4.23 mmol/L (3.20-5.66) among those taking them. Among patients taking lipid-lowering medications, 2.7% had LDL cholesterol lower than 1.8 mmol/L; the use of combination therapy, particularly with three drugs and with proprotein convertase subtilisin-kexin type 9 inhibitors, was associated with a higher proportion and greater odds of having LDL cholesterol lower than 1.8 mmol/L. Compared with index cases, patients who were non-index cases were younger, with lower LDL cholesterol and lower prevalence of cardiovascular risk factors and cardiovascular diseases (all p, Pfizer Independent Grant for Learning Change [16157823]; Amgen; Merck Sharp Dohme; Sanofi-Aventis; Daiichi Sankyo; Regeneron; National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, UK; NIHR; Czech Ministry of Health [NU20-02-00261]; Canadian Institutes of Health Research; Austrian Heart Foundation; Tyrolean Regional Government; Gulf Heart Association, The EAS FHSC is an academic initiative that has received funding from a Pfizer Independent Grant for Learning & Change 2014 (16157823) and from investigator-initiated research grants to the European Atherosclerosis Society-Imperial College London from Amgen, Merck Sharp & Dohme, Sanofi-Aventis, Daiichi Sankyo, and Regeneron. KKR acknowledges support from the National Institute for Health Research (NIHR) Imperial Biomedical Research Centre, UK. KID acknowledges support from a PhD Studentship from NIHR under the Applied Health Research programme for Northwest London, UK (the views expressed in this publication are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health). TF was supported by a grant from the Czech Ministry of Health (NU20-02-00261). JG receives support from the Canadian Institutes of Health Research. The Austrian Familial Hypercholesterolaemia registry has been supported by funds from the Austrian Heart Foundation and the Tyrolean Regional Government. The Gulf Familial Hypercholesterolaemia registry was done under the auspices of the Gulf Heart Association.

Background The clinical behavior and prognosis of patients with asymptomatic paradoxical low-gradient aortic stenosis (PLGAS) still remain controversial. Some authors consider PLGAS as an echocardiographically poorly quantified moderate AS (MAS). We aimed to investigate the clinical behavior of PLGAS by comparing it with that of asymptomatic high-gradient aortic stenosis (HG-AS) and MAS using transthoracic echocardiography (TTE) with speckle tracking imaging (STI) and cardiopulmonary exercise testing (CPET).Methods A cohort of 113 patients was included and categorized into three groups according to AS type: MAS (n=63), HG-AS (n=29), and PLGAS (n=21). Patients’ clinical data were obtained. Patients underwent 2D TTE with STI and CPET. Results There were no significant differences in the clinical variables between the three AS groups. In the multivariate multinomial logistic regression analysis, with PLGAS being the reference category, the most powerful variable for establishing a difference with HG-AS was the left ventricular mass (LVM) indexed by body-surface area (odds ratio [OR]=1.04, confidence interval [CI]=1.01-1.06, pConclusions TTE with STI and CPET established the clear differences between patients with asymptomatic PLGAS and those with asymptomatic MAS, as well as the similarities between patients with PLGAS and those with HG-AS. Our data identifies PLGAS as a completely different entity from MAS.

Thanks to advances in pediatric cardiology, most infants with tetralogy of Fallot (TOF) now survive into adulthood. This relatively new population of adult patients may face long-term complications, including pulmonary regurgitation (PR), right ventricular (RV) tract obstruction, residual shunts, RV dysfunction, and arrythmias. They will often need to undergo pulmonary valve (PV) replacement and other invasive re-interventions. However, the optimal timing for these procedures is challenging, largely due to the complexity of evaluating RV volume and function. The options for the follow-up of these patients have rapidly evolved from an angiography-based approach to the surge of advanced imaging techniques, mainly echocardiography, cardiac magnetic resonance (CMR), and computer tomography (CT). In this review, we outline the indications, strengths and limitations of these modalities in the adult TOF population.

Aims Familial hypercholesterolaemia (FH) and elevated lipoprotein(a) [Lp(a)] are inherited disorders associated with premature atherosclerotic cardiovascular disease (ASCVD). Aortic valve stenosis (AVS) is the most prevalent valvular heart disease and low-density lipoprotein cholesterol (LDL-C) and Lp(a) may be involved in its pathobiology. We investigated the frequency and predictors of severe AVS requiring aortic valve replacement (AVR) in molecularly defined patients with FH. Methods and results SAFEHEART is a long-term prospective cohort study of a population with FH and non-affected relatives (NAR). We analysed the frequency and predictors of the need for AVR due to AVS in this cohort. Five thousand and twenty-two subjects were enrolled (3712 with FH; 1310 NAR). Fifty patients with FH (1.48%) and 3 NAR (0.27%) required AVR [odds ratio 5.71; 95% confidence interval (CI): 1.78–18.4; P = 0.003] after a mean follow-up of 7.48 (3.75) years. The incidence of AVR was significantly higher in patients with FH (log-rank 5.93; P = 0.015). Cox regression analysis demonstrated an association between FH and AVR (hazard ratio: 3.89; 95% CI: 1.20–12.63; P = 0.024), with older age, previous ASCVD, hypertension, increased LDL-CLp(a)-years, and elevated Lp(a) being independently predictive of an event. Conclusion The need for AVR due to AVS is significantly increased in FH patients, particularly in those who are older and have previous ASCVD, hypertension, increased LDL-CLp(a)-years and elevated Lp(a). Reduction in LDL-C and Lp(a) together with control of hypertension could retard the progression of AVS in FH, but this needs testing in clinical trials. ClinicalTrials.gov number NCT02693548.

Introduction and objectives To describe the cardiovascular risk factors, lifestyle and cardiovascular treatment adherence of cardiologists in Latin America, Portugal, and Spain. Methods Seventeen Scientific Societies of Cardiology from Latin America, Portugal, and Spain were invited to participate. Each member was sent by email a link to an electronic questionnaire to be answered anonymously. The survey was divided into 4 sections: general characteristics, cardiovascular risk factors, nutritional survey based on Mediterranean diet recommendations and breakfast habits, and physical activity. Results A total of 1470 physicians (median age 49 years; IQR, 38.0–60.0 years; 61.4% women; 95% cardiologists) completed the questionnaire. The prevalence of cardiovascular risk factors was low: hypertension (23.5%), hyperlipidemia (25.1%), diabetes (6.7%), and active smokers (5.5%). Median body mass index was 24.7 kg/m2 (IQR, 22.5–27.1 kg/m2). Previous heart disease was low (7.3%). The PREDIMED score showed a low adherence to the Mediterranean diet 7.0 (IQR, 5.0–9.0). Physical activity analysis showed moderate activity. Conclusions Despite the heterogeneity of the sample and the limited rate of responses, this study provides the first data regarding cardiovascular risk factors, lifestyle, and cardiovascular treatment adherence of cardiologists in Latin America, Portugal, and Spain. Cardiologists are relatively aware of the importance of controlling cardiovascular risk factors although there is much room for improvement.

BACKGROUND Prosthesis-patient mismatch (PPM) after transcatheter aortic valve replacement (TAVR) remains an important issue. The aim of this study was to assess the value of a new discongruence index, to predict PPM after TAVR.Methods and Results: A total of 185 patients with severe aortic stenosis who underwent TAVR with the Edwards Sapien prosthesis or CoreValve Revalving system were included (Edwards valve, n=119; Core Valve Revalving system, n=66). Discongruence index was calculated pre-procedurally as the ratio of selected transcatheter valve size (mm) to body surface area (cm2). PPM was defined as effective orifice area (EOA) ≤0.85 cm2/m2 on transthoracic echocardiography before hospital discharge. Mean age was 82±5 years and 72 patients (38.9%) were men. The overall incidence of post-TAVR PPM was 35.1% (n=65). Discongruence index correlated with post-TAVR indexed EOA (y=0.18+0.057x; P

Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim isto describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded.Descriptive study of an FH cascade screening program. Index cases (ICs) and their 1st and 2nd grade relatives were appointed during a weekend by the FH Foundation. Venous blood samples were taken from the subjects for genetic, blood, and chemistry tests; specialized medical consultation and physical examination were performed.The study sample consisted of 132 subjects: 21 ICs and 111 relatives (16 under 18years old), with a mean age of 11.4years (SD4.57). Mean age of subjects over 18years was 45.2years. A gene mutation was found in 90 relatives. Mean age at diagnosis was 25years (SD17.7) for relatives and for 36.4years (SD17.2; P=.01) for ICs. Smoking rate was higher in relatives than in ICs (26.3% vs 4.8%; P=.02) and corneal arcus was more common in ICs as compared to relatives (47.6% vs 12.6%; P.001). Prior myocardial infarction was recorded in 14.3% of ICs and 4.2% of relatives respectively (P=.07). Maximum lipid lowering treatment was being administered to 43.1%.The screening detection approach identified the estimated 4% population with HFH in the area, and allows for diagnosing HFH 11.4years earlier.

Introduction and objectives Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. Methods We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain. The attainment of guideline-recommended plasma LDL-C goals at entry and follow-up was analyzed in relation to the use of lipid-lowering therapy. Results We enrolled 392 individuals younger than 18 years. Of these, 217 were molecularly-diagnosed FH patients and had a complete follow-up. The median follow-up time was 4.69 years (interquartile range, 2.48-6.38 years), 68.2% of FH patients were on statins, and 41.5% patients had LDL-C Conclusions This study shows that a high proportion of FH patients younger than 18 years have high LDL-C levels and fail to achieve recommended LDL-C targets. Statin use was the only independent predictor of LDL-C goal achievement. No safety concerns were detected during follow-up. These results indicate that many FH patients are not adequately controlled and that there is still room for treatment improvement.

Introduction and objectives: The SAFEHEART study was designed to analyze the situation of familial heterozygous hypercholesterolemia (FHH) and improve knowledge of this disease in Spain. Our objective was to determine the incidence rate of cardiovascular events, the estimated risk of developing an event and its modification, the use of lipid-lowering treatment, and the achievement of low-density lipoprotein cholesterol targets in patients with FHH. Methods: SAFEHEART is a prospective, open, multicenter, nationwide cohort study, with long-term protocol-based follow-up in a population of individuals with molecularly-characterized FHH. We analyzed patients older than 18 years with complete follow-up. Results: We included 2648 patients with FHH. The median follow-up was 6.6 (4.8-9.7) years. The overall incidence rate of cardiovascular events was 1.3 events/100 patient-years. After the follow-up, the 10-year estimated risk of developing a cardiovascular event was reduced from 1.6% to 1.3% (P

La telemedicina es una herramienta subutilizada en nuestros sistemas de atención sanitaria. Se trata de un recurso tecnológico que optimiza los servicios de salud, ahorra recursos, expande la capacidad de atención especializada a lugares remotos, descongestiona servicios médicos tradicionales y es un instrumento invaluable de enseñanza e investigación. La pandemia por COVID-19 nos obliga a extender su uso y supone una oportunidad para diseñar una adecuada implementación.

[Background] Maximal doses of potent statins are the basement of treatment of familial hypercholesterolemia (FH). Little is known about the use of different statin regimens in FH., [Objectives] The objectives of the study were to describe the treatment changes and low-density lipoprotein cholesterol (LDL-C) goal achievement with atorvastatin (ATV) and rosuvastatin (RV) in the SAFEHEART cohort, as well as to analyze the incidence of atherosclerotic cardiovascular events (ACVEs) and changes in the cardiovascular risk., [Methods] SAFEHEART is a prospective follow-up nationwide cohort study in a molecularly defined FH population. The patients were contacted on a yearly basis to obtain relevant changes in life habits, medication, and ACVEs., [Results] A total of 1939 patients were analyzed. Median follow-up was 6.6 years (5–10). The estimated 10-year risk according the SAFEHEART risk equation was 1.61 (0.67–3.39) and 1.22 (0.54–2.93) at enrollment for ATV and RV, respectively (P < .001). There were no significant differences at the follow-up: 1.29 (0.54–2.82) and 1.22 (0.54–2.76) in the ATV and RV groups, respectively (P = .51). Sixteen percent of patients in primary prevention with ATV and 18% with RV achieved an LDL-C, [Conclusion] ATV and RV are 2 high-potency statins widely used in FH. Although the reduction in LDL-C levels was greater with RV than with ATV, the superiority of RV for reducing ACVEs was not demonstrated., This study was supported by Fundación Hipercolesterolemia Familiar; Grant G03/181 and FIS PI12/01289 from Instituto de Salud Carlos III (ISCIII), Grant 08-2008 Centro Nacional de Investigación Cardiovascular (CNIC).

Aims To determine the prevalence and characteristics of bicuspid aortic valve (BAV) among elite athletes and to analyse the effect of long-term exercise training on their aortas. Methods and results Consecutive BAV and tricuspid aortic valve (TAV) elite athletes from a population of 5136 athletes evaluated at the Sports Medicine Center of the Spanish National Sports Council were identified using echocardiography. A total of 41 BAV elite athletes were matched with 41 TAV elite athletes, and 41 BAV non-athletic patients from three Spanish tertiary hospitals. Sixteen BAV elite athletes who had undergone at least two cardiac evaluations separated by more than 3 years were selected to assess their clinical course. The prevalence of BAV in elite athletes was 0.8%. The proximal ascending aorta was larger for both BAV groups in comparison to TAV athletes (P = 0.001). No differences in aortic diameters were found between BAV athletes and BAV non-athletes. In BAV elite athletes, the annual growth rates for aortic annulus, sinuses of Valsalva, sinotubular junction, and proximal ascending aorta were 0.04 ± 0.24, 0.11 ± 0.59, 0.14 ± 0.38, and 0.21 ± 0.44 mm/year, respectively. Aortic regurgitation was the only functional abnormality, but no significant progression was found. Conclusion High-intensity training and sports competition may not aggravate BAV condition during elite athletes’ careers. BAV elite athletes with mild-to-moderately dilated aortas may engage in high dynamic cardiovascular exercise without adverse consequences, although an echocardiographic follow-up is recommended.

Background Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level. Objective The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain. Methods An economic evaluation was performed using a decision tree analysis. The choice in the decision tree was between implementation of the national program for FH (NPFH) or keeping the usual clinical care. The NPFH detects FH patients through total cholesterol measurement at primary care level and use of genetic testing in index cases and relatives. The payer (National Health System) and social (including the productivity lost) perspectives were considered. The outcome variables were coronary events avoided, deaths avoided, and quality-adjusted life years (QALYs) gained. Results From the payer perspective, the application of the NPFH during 1 year prevents 847 coronary events and 203 deaths in the 9000 FH patients cohort during a 10-year follow-up, yielding an extra 767 QALYs, at a cost of €29,608 per QALY gained. From the social perspective, the NPFH is dominant over the control (the cost decreases and the effectiveness increases). The sensitivity analysis confirms the robustness of the findings. Conclusion The NPFH based on molecular testing is a cost-effective diagnostic and management strategy that supports government expenditure aimed at preventing coronary artery disease in FH patients in Spain. Implementation of such a strategy is likely to be also cost-effective in countries with similar developed healthcare systems.

Objectives To evaluate the safety and midterm hemodynamic results of direct transcatheter aortic valve replacement (TAVR) without pre-implantation balloon aortic valvuloplasty (BAV). Background BAV was considered a mandatory previous step in TAVR procedures. Methods A total of 339 consecutive patients who underwent transfemoral TAVR were prospectively selected. A 1:1 matching was conducted, pairing age, prosthesis type (self-expandable or balloon expandable) and size, and valve calcification grade (48% with moderate to severe valve calcification). Finally, 102 pairs (102 patients with previous BAV and 102 without BAV) were obtained. Results Direct TAVR was feasible in all patients without any crossover to BAV group. Device success was achieved in 91.2% and 90.2% of cases in direct TAVR and pre-BAV groups (P = 0.810), respectively, without any differences in balloon postdilation rate and residual aortic regurgitation. The amount of contrast agent, acute kidney injury and myocardial injury was significantly lower in the direct implantation group (P

This year, developments in cardiac imaging were marked by the publication of new guidelines. The recommendations on cardiac chamber quantification and the consensuses on the assessment of patients with hypertension and patients with cancer reinforced the value of deformation parameters. There were also developments in the role of imaging in endocarditis guidelines, in the assessment of the critically ill patient, and in the recommendations on transesophageal echocardiography and diagnosis of aortic disease. Three-dimensional echocardiography was deemed a key technique in the anatomical and functional quantification of the different cardiac structures. Computed tomography extended its scope from the diagnosis of coronary artery disease to structural intervention. Stress cardiac magnetic resonance imaging was established as an excellent technique for the diagnosis of ischemia. In the field of nuclear medicine, the use of hybrid imaging emerged as an alternative to conventional techniques for the diagnosis of coronary disease and prosthetic valve endocarditis or endocarditis affecting cardiac implantable devices.

Familial hypercholesterolemia is a frequent genetic disease associated with lifelong elevation of LDL-cholesterol and premature atherosclerotic cardiovascular disease (ASCVD). Statins are the cornerstone of treatment. However, with the introduction of novel LDL-cholesterol-lowering therapies, it is necessary to identify familial hypercholesterolemia patients presenting a significantly high residual ASCVD risk. The aim of this review is to provide an update on the recent literature concerning cardiovascular risk stratification including the role of coronary imaging.Several factors have shown to be independent predictors of ASCVD in familial hypercholesterolemia. These include clinical scores with cardiovascular risk factors, coronary imaging and novel protein biomarkers. However, the recent introduction of the SAFEHEART risk-equation (SAFEHEART-RE) could allow a more accurate ASCVD risk prediction in familial hypercholesterolemia.This article highlights the SAFEHEART-RE as a model to predict incident ASCVD in familial hypercholesterolemia. This equation is a simple and widely applicable tool for use in every clinical setting. Furthermore, coronary atherosclerosis assessed by coronary computed-tomographic angiography (coronary-CTA) is independently associated to the cardiovascular risk estimated according to the SAFEHEART-RE. This equation, as well as coronary-CTA and new biomarkers, could increase individual ASCVD risk stratification and could improve the efficiency and the use of new lipid-lowering therapies in familial hypercholesterolemia.

Introduction and objectives: Late functional tricuspid regurgitation after rheumatic left-sided valve surgery is an important predictor of poor prognosis. This study investigated the usefulness and accuracy of 3-dimensional transthoracic echocardiography tricuspid area compared with conventional 2-dimensional diameter (2DD) for assessing significant tricuspid annulus dilatation, providing cutoff values that could be used in clinical practice to improve patient selection for surgery. Methods: We prospectively included 109 patients with rheumatic heart disease in the absence of previous valve replacement. Tricuspid regurgitation was divided into 3 groups: mild, moderate, and severe. Optimal 3-dimensional area (3DA) and 2DD cutoff points for identification of significant tricuspid annulus dilatation were obtained and compared with current guideline thresholds. Predictive factors for 3DA dilatation were also assessed. Results: Optimal cutoff points for both absolute and adjusted to body surface area (BSA) tricuspid annulus dilatation were identified (3DA: 10.4 cm2, 6.5 cm2/m2; 2DD: 35 mm, 21 mm/m2); 3DA/BSA had the best diagnostic performance (AUC = 0.83). Three-dimensional transthoracic echocardiography tricuspid area helped to reclassify surgical indication in 14% of patients with mild tricuspid regurgitation (95%CI, 1%-15%; P = .03) and 37% with moderate tricuspid regurgitation (95%CI, 22%-37%; P < .0001), whereas 3DA/BSA changed surgery criteria in cases of mild tricuspid regurgitation (17%; 95%CI, 3%-17%; P = .01) compared with 2DD/BSA. On multivariable analysis, right and left atrial volumes and basal right ventricle diameter were independently correlated with 3DA. Conclusions: The current 40 mm threshold underestimates tricuspid annulus dilatation. Although 21 mm/m2 seems to be a reasonable criterion, the combination with 3DA assessment improves patient selection for surgery. Full English text available from:www.revespcardiol.org/en

BACKGROUND: Familial hypercholesterolemia (FH) confers an increased risk of premature atherosclerotic disease. Coronary computed tomographic angiography (CTA) can assess preclinical coronary atherosclerosis. OBJECTIVES: To describe coronary CTA findings in asymptomatic molecularly defined FH individuals, to identify those factors related to its presence and extension, and to assess the impact of these results in patients' care and estimated risk. METHODS: Four hundred and forty individuals with FH, without clinical cardiovascular disease, were consecutively enrolled and underwent a coronary CTA that was used to analyze coronary atherosclerosis based on coronary calcium score (CCS), sum of stenosis severity, and plaque composition sum (PCS). For FH patients, cardiovascular risk was estimated using the specific SAFEHEART risk equation. Follow-up was performed using a standardized protocol. RESULTS: Mean age was 46.4 years (231 women, 52%). Coronary calcium was present in 55%, mean CCS was 130.9, 46% had a plaque with lumen involvement, and mean PCS was 1.1. During follow-up, there were 17 (4%) nonfatal events and 2 (1%) fatal events. CCS was independently associated to the estimated risk and low-density lipoprotein-cholesterol life-years, sum of stenosis severity to the estimated risk, and PCS to the estimated risk and low-density lipoprotein-cholesterol life-years. CTA findings induced a positive change in patients' care and in their estimated risk. CONCLUSION: Coronary artery atherosclerosis is highly prevalent in asymptomatic patients with FH and it is independently associated to cardiovascular risk. More advanced disease on CTA was associated with subsequent intensification of therapy and reduction of estimated risk. Further longitudinal studies are required to know if these findings might improve the risk stratification in patients with FH. (C) 2018 National Lipid Association. All rights reserved.

We thank Natale and colleagues for their interesting comments about our article.1 Their comments provide important information, and we would like to discuss several of these points. We agree with the authors that familial hypercholesterolemia (FH) is frequent, underdiagnosed, and undertreated and that the …

The two-dimensional (2D) proximal isovelocity surface area (PISA) method has important technical limitations for mitral valve orifice area (MVA) assessment in mitral stenosis (MS), mainly the geometric assumptions of PISA shape and the requirement of an angle correction factor. Single-beat real-time three-dimensional (3D) color Doppler imaging allows the direct measurement of PISA without geometric assumptions or the requirement of an angle correction factor. The aim of this study was to validate this method in patients with rheumatic MS.Sixty-three consecutive patients with rheumatic MS were included. MVA was assessed using the transthoracic 2D and 3D PISA methods. Planimetry of MVA (2D and 3D) and the pressure half-time method were used as reference methods.The 3D PISA method had better correlations with the reference methods (with 2D planimetry, r = 0.85, P.001; with 3D planimetry, r = 0.89, P.001; and with pressure half-time, r = 0.85, P.001) than the conventional 2D PISA method (with 2D planimetry, r = 0.63, P.001; with 3D planimetry, r = 0.66, P.001; and with pressure half-time, r = 0.68, P.001). In addition, a consistent significant underestimation of MVA using the conventional 2D PISA method was observed. A high percentage (30%) of patients with nonsevere MS by 3D planimetry were misclassified by the 2D PISA method as having severe MS (effective regurgitant orifice area1 cm(2)). In contrast, the 3D PISA method had 94% agreement with 3D planimetry. Good intra- and interobserver agreement for 3D PISA measurements were observed, with intraclass correlation coefficients of 0.95 and 0.90, respectively.MVA assessment using PISA by single-beat real-time 3D color Doppler echocardiography is feasible in the clinical setting and more accurate than the conventional 2D PISA method.

ResumenLa hiperlipidemia familiar combinada (HFC) es un trastorno muy frecuente asociado a enfermedad coronaria prematura. Se transmite de forma autosómica dominante, aunque no existe un gen único asociado al trastorno. El diagnóstico se realiza mediante criterios clínicos, y son importantes la variabilidad del fenotipo lipídico y la historia familiar de hiperlipidemia.Es frecuente la asociación con diabetes mellitus tipo2, hipertensión arterial y obesidad central. Los pacientes con HFC se consideran de riesgo cardiovascular alto y el objetivo terapéutico es un colesterol-LDL

Metabolic syndrome (MS) is an association of cardiovascular risk factors that increases the risk of coronary disease or type 2 diabetes mellitus (DM2), and has also been associated with the presence of liver steatosis (LS). In this study the relation of MS and LS with cholesterol control was analyzed in very high cardiovascular risk patients (coronary patients and/or DM2).A cross-sectional epidemiological study including 6988 patients, from whom information was obtained on their characteristics, lipid profile and treatments.4455 patients (65%) of the total study population had MS. Of MS criteria, high BP was the criterion most represented in the total population, while high TGs was the least. Within the total population, coronary patients showed a greater proportion of high BP, high TG and low HDL-c than those without coronary disease. Although no influence of MS was seen on the achievement of LDL-c targets (70 mg/dL), the presence of high BP, high blood glucose and low HDL-c was related to poorer control of LDL-c. Finally, patients with MS showed a greater proportion of liver steatosis and this was associated in turn with poorer control of LDL-c.The criteria for MS are closely related to cholesterol control. LS is more prevalent in patients with MS, and it is associated with poorer control of LDL-c. We should focus on the presence of MS in high and very high CV risk patients in order to improve their lipid control.

Objective To assess the relationship between functional mitral regurgitation (MR) after a non-ST segment elevation acute coronary syndrome (NSTSEACS) and long-term prognosis, ventricular remodelling and further development of atrial fibrillation (AF), since functional MR is common after myocardial infarction. Design and setting Prospective cohort study conducted in a tertiary referral centre. Patients We prospectively studied 237 patients consecutively discharged in New York Heart Association class I–II (74% men; mean age 66.1 years) after a first NSTSEACS. All underwent an ECG the first week after admission and were echocardiographically and clinically followed-up (median 6.95 years). Results MR was detected in 95 cases (40.1%) and became an independent risk factor for the development of heart failure (HF) and major adverse cardiovascular events (MACE) (per MR degree, HR HF 1.71, 95% CI 1.138 to 2.588, p=0.01; HR MACE 1.49, 95% CI 1.158 to 1.921, p=0.002). Left ventricular diastolic (grade I 12.7±40.7; grade II 26.8±12.4; grade III 46.3±50.9 mL, p=0.01) and systolic (grade I 10.4±37.3; grade II 10.12±12.7; grade III 36.8±46.0 mL, p=0.02) mean volumes were higher after follow-up in patients with MR, in proportion to the initial degree of MR. In the rhythm analysis (126 patients; previously excluding those with any history of AF) during follow-up, 11.4% of patients with degree I MR, 14.3% with degree II MR and 75% with degree III MR developed AF, while only 5.1% of those with degree 0 developed AF, p Conclusions MR is common after an NSTSEACS. The presence and greater degree of MR confers a worse long-term prognosis after a first NSTSEACS. This can in part be explained by increased negative ventricular remodelling and increased occurrence of AF.

Improvements in early detection and treatment have markedly reduced cancer-related mortality. However survival not only depends on effectively cure cancer, but prevention, diagnosis and treatment of cancer-related complications is also needed. Cardiovascular toxicity is a widespread problem across many classes of therapeutic schemes, however scientific evidence in the management of cardiovascular complications of onco-hematological patients is scarce, as these patients have been systematically excluded from clinical trials and current recommendations are based on expert consensus. Multidisciplinary teams are mandatory to decrease morbidity and mortality from both cardiotoxicity and cancer itself. An excessive concern for the occurrence of cardiovascular toxicity, can avoid potentially curative therapies, while underestimating this risk, increases long-term mortality of cancer survivors. The objective of this consensus document, developed in collaboration of the Spanish Society of Cardiology, the Spanish Society of Medical Oncology, the Spanish Society of Radiation Oncology and the Spanish Society of Hematology, is to update the necessary concepts and expertise on cardio-onco-hematology that enable its application in daily clinical practice and to promote the development of local multidisciplinary teams, to improve the cardiovascular health of patients with cancer.

Background: Although risk factors for atherosclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described, models for predicting incident ASCVD have not been reported. Our aim was to use the SAFEHEART registry (Spanish Familial Hypercholesterolemia Cohort Study) to define key risk factors for predicting incident ASCVD in patients with FH. Methods: SAFEHEART is a multicenter, nationwide, long-term prospective cohort study of a molecularly defined population with FH with or without previous ASCVD. Analyses to define risk factors and to build a risk prediction equation were developed, and the risk prediction equation was tested for its ability to discriminate patients who experience incident ASCVD from those who did not over time. Results: We recruited 2404 adult patients with FH who were followed up for a mean of 5.5 years (SD, 3.2 years), during which 12 (0.5%) and 122 (5.1%) suffered fatal and nonfatal incident ASCVD, respectively. Age, male sex, history of previous ASCVD, high blood pressure, increased body mass index, active smoking, and low-density lipoprotein cholesterol and lipoprotein(a) levels were independent predictors of incident ASCVD from which a risk equation with a Harrell C index of 0.85 was derived. The bootstrap resampling (100 randomized samples) of the original set for internal validation showed a degree of overoptimism of 0.003. Individual risk was estimated for each person without an established diagnosis of ASCVD before enrollment in the registry by use of the SAFEHEART risk equation, the modified Framingham risk equation, and the American College of Cardiology/American Heart Association ASCVD Pooled Cohort Risk Equations. The Harrell C index for these models was 0.81, 0.78, and 0.8, respectively, and differences between the SAFEHEART risk equation and the other 2 were significant ( P =0.023 and P =0.045). Conclusions: The risk of incident ASCVD may be estimated in patients with FH with simple clinical predictors. This finding may improve risk stratification and could be used to guide therapy in patients with FH. Clinical Trial Registration: URL: http://clinicaltrials.gov . Unique identifier: NCT02693548.

INTRODUCTION: Real-world, country-specific studies of dual antiplatelet therapy (DAPT) duration among survivors of acute coronary syndrome (ACS) are important for improving long-term prognosis. AIMS: To investigate DAPT duration after hospital discharge for ACS in Spain. RESULTS: Data from patients enrolled in the Spanish cohort of the EPICOR (long-tErm follow-up of antithrombotic management Patterns In acute CORonary syndrome patients) study (NCT01171404) were analyzed for changes to antithrombotic medication up to 2 years postdischarge according to index event diagnosis and patient characteristics. Deaths, coronary events, and bleeding events were analyzed over the same period. Overall, a high proportion of patients remained on DAPT at 2 years (53.1%). Among patients who experienced any on-treatment bleeding event, almost two-thirds remained on DAPT at the end of follow-up. Patients >65 years, diabetic, or those that were medically managed were more likely to continue with DAPT until 2 years following discharge. At 2 years, the incidence of bleeding events requiring hospitalization was low compared with the incidence of coronary events (1.4% vs 6.6%). There was a numerical reduction in coronary events, but no increase in bleeding events, with DAPT continuation compared with single antiplatelet therapy. CONCLUSIONS: More than half of patients in this unselected cohort study remained on DAPT at 2 years following discharge for ACS. Continuation with DAPT was greater among patients with additional cardiovascular risk factors, which suggests that treating physicians in Spain prioritizes ischemic risk reduction over bleeding risk in patients with ACS, according to patient's risk profile.

BACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanishspeaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care. info:eu-repo/semantics/publishedVersion

We read with great interest the excellent article by de Ferranti et al on familial hypercholesterolaemia (FH) in Circulation .1 FH is an autosomal codominant disorder characterized by elevated plasma concentrations of low-density lipoprotein cholesterol, usually due to a single copy of a loss-of-function allele in the gene encoding the LDL receptor.2 Untreated affected individuals have an increased risk of premature atherosclerotic cardiovascular disease and early mortality.2 Early diagnosis of FH leads to initiation of preventive measures. This effective treatment is, from our point of view, the main reason to emphasize the crucial relevance of an accurate and early …