44 results on '"Arbustini, Eloisa"'
Search Results
2. Classification of cardiomyopathies
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Arbustini, Eloisa, primary, Favalli, Valentina, additional, Toro, Alessandro Di, additional, Serio, Alessandra, additional, and Narula, Jagat, additional
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- 2018
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3. The new 2023 ESC guidelines for the management of cardiomyopathies: a guiding path for cardiologist decisions.
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Grasso M, Bondavalli D, Vilardo V, Cavaliere C, Gatti I, Di Toro A, Giuliani L, Urtis M, Ferrari M, Cattadori B, Serio A, Pellegrini C, and Arbustini E
- Abstract
In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as 'myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease sufficient to cause the observed myocardial abnormality'. They are morpho-functionally classified as hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy with the addition of the left ventricular non-dilated cardiomyopathy that describes intermediate phenotypes not fulfilling standard disease definitions despite the presence of myocardial disease on cardiac imaging or tissue analysis. The new ESC guidelines provide 'a guide to the diagnostic approach to cardiomyopathies, highlight general evaluation and management issues, and signpost the reader to the relevant evidence base for the recommendations'. The recommendations and suggestions included in the document provide the tools to build up pathways tailored to specific cardiomyopathy (phenotype and cause) and define therapeutic indications, including target therapies where possible. The impact is on clinical cardiology, where disease-specific care paths can be assisted by the guidelines, and on genetics, both clinics and testing, where deep phenotyping and participated multi-disciplinary evaluation provide a unique tool for validating the pathogenicity of variants. The role of endomyocardial biopsy remains underexploited and confined to particular forms of restrictive cardiomyopathy, myocarditis, and amyloidosis. New research and development will be needed to cover the gaps between science and clinics. Finally, the opening up to disciplines such as bioinformatics, bioengineering, mathematics, and physics will support clinical cardiologists in the best governance of the novel artificial intelligence-assisted resources., Competing Interests: Conflict of interest: none declared., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2024
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4. Coronary 'microevagination' in intact fibrous cap acute coronary syndromes: another piece of the puzzle.
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Prati F and Arbustini E
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- Humans, Prospective Studies, Heart, Fibrosis, Acute Coronary Syndrome diagnostic imaging, Plaque, Atherosclerotic, Coronary Artery Disease
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Competing Interests: Conflict of interest: None declared.
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- 2024
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5. 2023 ESC Guidelines for the management of cardiomyopathies.
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Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, and Kaski JP
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- Humans, Death, Sudden, Cardiac, Cardiomyopathies diagnosis, Cardiomyopathies therapy, Arrhythmogenic Right Ventricular Dysplasia, Defibrillators, Implantable
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- 2023
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6. Sudden cardiac death in ischaemic heart disease: coronary thrombosis or myocardial fibrosis?
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Prati F, Gurguglione G, Biccire F, Cipolloni L, Ferrari M, Di Toro A, and Arbustini E
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The mechanisms underlying sudden cardiac death (SCD) in patients with ischaemic heart disease (IHD) caused by coronary atherosclerosis are not yet clarified. For decades, acute coronary causes have been sought as the main triggers of SCD in these patients. In fact, angiographic and pathological studies in cardiac arrest survivors and SCD victims, respectively, consistently show that acute plaque events occur in ∼50% of SCD of patients with IHD. Among the acute events, plaque rupture and erosion triggering acute coronary thrombosis remain the main substrates; however, a significant percentage of plaque haemorrhage (20%) is identified by pathological studies. Its role in acute coronary thrombosis is unknown and deserves future intravascular imaging developments. In the remaining 50% of SCD, the atherosclerotic coronary disease shows the characteristics of structural stability. More recent studies have focused attention not only on the coronary tree and on the search for acute complications of atherosclerotic plaques but also on myocardial tissue, identifying replacement and patchy fibrosis as the most frequent findings in the post-mortem hearts of these patients, a feature followed by cardiac hypertrophy, as assessed by the heart weight, usually associated with fibrosis. The possibility of characterizing myocardial fibrosis in vivo , besides confirming the pathological data, now offers new risk stratification perspectives to prevent SCD in IHD, alongside the consolidated secondary prevention criteria based on left ventricular dysfunction., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2023
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7. Spontaneous coronary artery dissection: an unpredictable event.
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Smirnova A, Aliberti F, Cavaliere C, Gatti I, Vilardo V, Giorgianni C, Cassani C, Repetto A, Narula N, Giuliani L, Urtis M, Ozaki Y, Prati F, Arbustini E, and Ferrari M
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Spontaneous coronary artery dissection (SCAD) is an under-recognized cause of acute coronary syndrome that predominantly affects women in adulthood and is the leading cause of acute myocardial infarction in pregnancy. The most common clinical presentation is ST-segment elevation myocardial infarction (STEMI) or non-STEMI, followed by cardiogenic shock (∼2%), sudden cardiac death (0.8% in autopsy series), cardiac arrest, ventricular arrhythmias (∼5%), and Takotsubo syndrome. The prevalence of SCAD in the general population is largely uncertain due to underdiagnosis. Oral contraceptives, post-menopausal therapy, and infertility treatments are recognized associated factors. The pathological substrates (fibromuscular dysplasia) and triggers (especially emotional stress) are commonly present in affected women. The few cases with a precise genetic aetiology occur in the context of syndromic and non-syndromic connective tissue diseases. The only true certainty in SCAD is the overwhelming prevalence in women. The first event as well as the recurrence (up to 30%, which varies depending on the definition) is largely unpredictable. The treatment strategy is highly individualized and requires extensive additional study in order to optimize outcomes and prevent major adverse cardiovascular events in affected individuals. We have known about SCAD for nearly a century, but we still do not know how best to prevent, diagnose, and treat it, making SCAD a highly important and unmet clinical need., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2023
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8. Optical coherence tomography-derived lipid core burden index and clinical outcomes: results from the CLIMA registry.
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Biccirè FG, Budassi S, Ozaki Y, Boi A, Romagnoli E, Di Pietro R, Bourantas CV, Marco V, Paoletti G, Debelak C, Sammartini E, Versaci F, Fabbiocchi F, Burzotta F, Pastori D, Crea F, Arbustini E, Alfonso F, and Prati F
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- Humans, Predictive Value of Tests, Fibrosis, Lipids, Registries, Tomography, Optical Coherence methods, Plaque, Atherosclerotic diagnostic imaging
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Aims: The aim of this study was to assess the morphological characteristics and prognostic implications of the optical coherence tomography (OCT)-derived lipid core burden index (LCBI)., Methods and Results: OCT-LCBI was assessed in 1003 patients with 1-year follow-up from the CLIMA multicentre registry using a validated software able to automatically obtain a maximum OCT-LCBI in 4 mm (maxOCT-LCBI4mm). Primary composite clinical endpoint included cardiac death, myocardial infarction, and target-vessel revascularization. A secondary analysis using clinical outcomes of CLIMA study was performed. Patients with a maxOCT-LCBI4mm ≥ 400 showed higher prevalence of fibrous cap thickness (FCT) <75 μm [odds ratio (OR) 1.43, 95% confidence interval (CI) 1.03-1.99; P = 0.034], lipid pool arc >180° (OR 3.93, 95%CI 2.97-5.21; P < 0.001), minimum lumen area <3.5 mm2 (OR 1.5, 95%CI 1.16-1.94; P = 0.002), macrophage infiltration (OR 2.38, 95%CI 1.81-3.13; P < 0.001), and intra-plaque intimal vasculature (OR 1.34, 95%CI 1.05-1.72; P = 0.021). A maxOCT-LCBI4mm ≥400 predicted the primary endpoint [adjusted hazard ratio (HR) 1.86, 95%CI 1.1-3.2; P = 0.019] as well as the CLIMA endpoint (HR 2.56, 95%CI 1.24-5.29; P = 0.011). Patients with high lipid content and thin FCT < 75 µm were at higher risk for adverse events (HR 4.88, 95%CI 2.44-9.72; P < 0.001)., Conclusions: A high maxOCT-LCBI4mm was related to poor outcome and vulnerable plaque features. This study represents a step further in the automated assessment of the coronary plaque risk profile., Competing Interests: Conflicts of interest: Francesco Burzotta received speaker's fees from Terumo, Abiomed, Abbott, Medtronic. The other Authors declare no conflicts of interest., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
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- 2023
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9. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry.
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Lopes LR, Losi MA, Sheikh N, Laroche C, Charron P, Gimeno J, Kaski JP, Maggioni AP, Tavazzi L, Arbustini E, Brito D, Celutkiene J, Hagege A, Linhart A, Mogensen J, Garcia-Pinilla JM, Ripoll-Vera T, Seggewiss H, Villacorta E, Caforio A, and Elliott PM
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- Female, Humans, Risk Factors, Obesity complications, Obesity epidemiology, Heart Disease Risk Factors, Cardiovascular Diseases epidemiology, Cardiovascular Diseases genetics, Cardiovascular Diseases complications, Cardiomyopathy, Hypertrophic complications, Cardiomyopathy, Hypertrophic epidemiology, Cardiomyopathy, Hypertrophic genetics, Cardiomyopathies complications, Ventricular Dysfunction, Left complications, Hypertension complications
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Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry., Methods and Results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI), and clinical traits was analysed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene. The prevalence of HT, DM, and obesity (Ob) was 37, 10, and 21%, respectively. HT, DM, and Ob were associated with older age (P<0.001), less family history of HCM (HT and DM P<0.001), higher New York Heart Association (NYHA) class (P<0.001), atrial fibrillation (HT and DM P<0.001; Ob p = 0.03) and LV (left ventricular) diastolic dysfunction (HT and Ob P<0.001; DM P = 0.003). Stroke was more frequent in HT (P<0.001) and mutation-positive patients with DM (P = 0.02). HT and Ob were associated with higher provocable LV outflow tract gradients (HT P<0.001, Ob P = 0.036). LV hypertrophy was more severe in Ob (P = 0.018). HT and Ob were independently associated with NYHA class (OR 1.419, P = 0.017 and OR 1.584, P = 0.004, respectively). Other associations, including a higher proportion of females in HT and of systolic dysfunction in HT and Ob, were observed only in mutation-positive patients., Conclusion: Common CVRF are associated with a more severe HCM phenotype, suggesting a proactive management of CVRF should be promoted. An interaction between genotype and CVRF was observed for some traits., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2022
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10. Genetics and clinics: together to diagnose cardiomyopathies.
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Urtis M, Di Toro A, Osio R, Giuliani L, Serio A, Grasso M, Fergnani V, Smirnova A, Aliberti F, and Arbustini E
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The diagnostic paths of hereditary cardiomyopathies (CMPs) include both clinical and molecular genetics. The first step is the clinical diagnosis that guides the decisions about treatments, monitoring, prognostic stratification, and prevention of major events. The type of CMP [hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy (ARVC)] is defined by the phenotype, and the genetic testing may identify the precise cause. Furthermore, genetic testing provides a pre-clinical diagnosis in unaffected family members and the basis for prenatal diagnosis. It can contribute to risk stratification (e.g. LMNA) and can be a major diagnostic criterion (e.g. ARVC). The test can be limited to a single gene when the pre-test diagnostic hypothesis is based on proven clinical evidence (e.g. GLA for Fabry disease). Alternatively, it can be expanded from a multigene panel to a whole exome or whole genome sequencing when the pre-test hypothesis is a genetically heterogeneous disease. In the last decade, the study of larger genomic targets led to the identification of numerous gene variants not only pathogenic (clinically actionable) but also of uncertain clinical significance (not actionable). For the latter, the pillar of the genetic diagnosis is the correct interpretation of the pathogenicity of genetic variants, which is evaluated using both bioinformatics and clinical-genetic criteria about the patient and family. In this context, cardiologists play a central role in the interpretation of genetic tests, performing the deep-phenotyping of variant carriers and establishing the co-segregation of the genotype with the phenotype in families., Competing Interests: Conflict of interest: None declared., (© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2022
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11. Interpretation of genetic variants depends on a clinically guided integration of phenotype and molecular data.
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Arbustini E, Urtis M, and Elliott P
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- Consensus, Genomics, Humans, Phenotype, Cardiology, Cardiomyopathies, Genetics, Medical
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- 2022
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12. Epidemiology of cardiomyopathies: essential context knowledge for a tailored clinical work-up.
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Pasqualucci D, Iacovoni A, Palmieri V, De Maria R, Iacoviello M, Battistoni I, Macera F, Olivotto I, Arbustini E, and Mortara A
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- Adolescent, Adult, Humans, Incidence, Middle Aged, Prevalence, Young Adult, Cardiomyopathies diagnosis, Cardiomyopathies epidemiology, Cardiomyopathies genetics, Heart Defects, Congenital, Hypertension
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Cardiomyopathies (CMPs) are primary disorders of myocardial structure and function in the absence of coronary artery disease, hypertension, valvular disease, and congenital heart disease. Knowledge of the incidence and prevalence of CMPs may help clinicians to compare their observations in clinical practice with expected cases per person-year and to avoid under-reporting in clinical context. Currently, available estimates of prevalence and incidence of CMPs are based on clinical data, collected with a wide variability in population-source, and before the genetic testing evolved as a standard diagnostic tool. This review focuses on the epidemiology of CMPs in subjects aged between 18 and 55 years. A structured up-to-date diagnostic flow-chart for CMPs diagnosis and assessment is proposed to avoid misdiagnosis of CMPs in the young population and in subjects with unexplained cardiac disorders., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2020. For permissions, please email: journals.permissions@oup.com.)
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- 2022
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13. Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
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Arbustini E, Behr ER, Carrier L, van Duijn C, Evans P, Favalli V, van der Harst P, Haugaa KH, Jondeau G, Kääb S, Kaski JP, Kavousi M, Loeys B, Pantazis A, Pinto Y, Schunkert H, Di Toro A, Thum T, Urtis M, Waltenberger J, and Elliott P
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- Genetic Predisposition to Disease genetics, Genetic Testing, Genomics, Humans, Phenotype, Cardiology, Cardiomyopathies genetics
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This document describes the contribution of clinical criteria to the interpretation of genetic variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist cardiologists in defining the clinical contribution to a genetic diagnosis and the interpretation of molecular genetic reports. The identification of a genetic variant of unknown or uncertain significance is a limitation of genetic testing, but current guidelines for the interpretation of genetic variants include essential contributions from clinical family screening that can establish a de novo assignment of the variant or its segregation with the phenotype in the family. A partnership between clinicians and patients helps to solve major uncertainties and provides reliable and clinically actionable information., (© Crown copyright 2022.)
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- 2022
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14. Long COVID: long-term effects?
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Di Toro A, Bozzani A, Tavazzi G, Urtis M, Giuliani L, Pizzoccheri R, Aliberti F, Fergnani V, and Arbustini E
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The term Long COVID (or Post COVID) describes a condition characterized by persistence of symptoms for at least 12 weeks after the onset of COVID-19. It may last several months but the duration is still matter of observation. The symptoms and the clinical manifestations are clinically heterogeneous and suggesting involvement of multi-organs/systems, including the cardiovascular system. The general recurrent symptoms include fatigue, breathlessness, myalgia, headache, loss of memory, and impaired concentration. Patients report loss of their previous psychophysical performance. Cardiovascular involvement manifests with common symptoms such as palpitations and chest pain, and, less commonly, with events such as late arterial and venous thromboembolisms, heart failure episodes, strokes or transient ischaemic attack, 'myo-pericarditis'. The diagnostic criteria are mainly based on the narrative of the patients. Measurable biomarkers or instrumental findings or clinical events are not yet framed in a shared diagnostic framework. The open question for clinicians and researchers is whether biomarkers, electrocardiogram, non-invasive imaging, and clinical monitoring should be included in a shared diagnostic protocol aimed at defining the diagnostic path and protecting patients at risk of unexpected events., (Published on behalf of the European Society of Cardiology. © The Author(s) 2021.)
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- 2021
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15. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
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Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Müller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Völker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanché H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dörr M, Asselbergs FW, Villard E, Trégouët DA, and Charron P
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- Adaptor Proteins, Signal Transducing genetics, Animals, Apoptosis Regulatory Proteins, Chromosomes, Genetic Predisposition to Disease genetics, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide genetics, Cardiomyopathy, Dilated genetics, Heart Failure, Systolic genetics
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Aims: Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure., Methods and Results: We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10-11 and 7.7 × 10-4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10-8 and 1.4 × 10-3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit gene., Conclusion: This study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2021. For permissions, please email: journals.permissions@oup.com.)
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- 2021
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16. Prospective follow-up in various subtypes of cardiomyopathies: insights from the ESC EORP Cardiomyopathy Registry.
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Gimeno JR, Elliott PM, Tavazzi L, Tendera M, Kaski JP, Laroche C, Barriales-Villa R, Seferovic P, Biagini E, Arbustini E, Lopes LR, Linhart A, Mogensen J, Hagege A, Espinosa MA, Saad A, Maggioni AP, Caforio ALP, and Charron PH
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- Adolescent, Adult, Follow-Up Studies, Humans, Prospective Studies, Registries, Atrial Fibrillation, Cardiology, Cardiomyopathies epidemiology
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Aims: The European Society of Cardiology (ESC) European Observational Research Programme (EORP) Cardiomyopathy Registry is a prospective multinational registry of consecutive patients with cardiomyopathies. The objective of this report is to describe the short-term outcomes of adult patients (≥18 years old)., Methods and Results: Out of 3208 patients recruited, follow-up data at 1 year were obtained in 2713 patients (84.6%) [1420 with hypertrophic (HCM); 1105 dilated (DCM); 128 arrhythmogenic right ventricular (ARVC); and 60 restrictive (RCM) cardiomyopathies]. Improvement of symptoms (dyspnoea, chest pain, and palpitations) was globally observed over time (P < 0.05 for each). Additional invasive procedures were performed: prophylactic implantation of implantable cardioverter-defibrillator (ICD) (5.2%), pacemaker (1.2%), heart transplant (1.1%), ablation for atrial or ventricular arrhythmia (0.5% and 0.1%). Patients with atrial fibrillation increased from 28.7% to 32.2% of the cohort. Ventricular arrhythmias (VF/ventricular tachycardias) in ICD carriers (primary prevention) at 1 year were more frequent in ARVC, then in DCM, HCM, and RCM (10.3%, 8.2%, 7.5%, and 0%, respectively). Major cardiovascular events (MACE) occurred in 29.3% of RCM, 10.5% of DCM, 5.3% of HCM, and 3.9% of ARVC (P < 0.001). MACE were more frequent in index patients compared to relatives (10.8% vs. 4.4%, P < 0.001), more frequent in East Europe centres (13.1%) and least common in South Europe (5.3%) (P < 0.001). Subtype of cardiomyopathy, geographical region, and proband were predictors of MACE on multivariable analysis., Conclusions: Despite symptomatic improvement, patients with cardiomyopathies remain prone to major clinical events in the short term. Outcomes were different not only according to cardiomyopathy subtypes but also in relatives vs. index patients, and according to European regions., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author(s) 2020. For permissions, please email: journals.permissions@oup.com.)
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- 2021
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17. Myths to debunk: the non-compacted myocardium.
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Di Toro A, Giuliani L, Smirnova A, Favalli V, Serio A, Urtis M, Grasso M, and Arbustini E
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Left ventricular non-compaction (LVNC) is defined by the triad: prominent trabecular anatomy, thin compacted layer, and deep inter-trabecular recesses. No person, sick or healthy, demonstrates identical anatomy of the trabeculae; their configuration represents a sort of individual dynamic 'cardiac fingerprinting'. LVNC can be observed in healthy subjects with normal left ventricular (LV) size and function, in athletes, in pregnant women, as well as in patients with haematological disorders, neuromuscular diseases, and chronic renal failure; it can be acquired and potentially reversible. When LVNC is observed in patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy, restrictive cardiomyopathy, or arrhythmogenic cardiomyopathy, the risk exists of misnaming the cardiomyopathy as 'LVNC cardiomyopathy' rather than properly describe, i.e. a 'DCM associated with LVNC'. In rare infantile CMPs (the paradigm is tafazzinopathy or Barth syndrome), the non-compaction (NC) is intrinsically part of the cardiac phenotype. The LVNC is also common in congenital heart disease (CHD) as well as in chromosomal disorders with systemic manifestations. The high prevalence of LVNC in healthy athletes, its possible reversibility or regression, and the increasing detection in healthy subjects suggest a cautious use of the term 'LVNC cardiomyopathy', which describes the morphology, but not the functional profile of the cardiac disease. Genetic testing, when positive, usually reflects the genetic causes of an underlying cardiomyopathy rather than that of the NC, which often does not segregate with CMP phenotype in families. Therefore, when associated with LV dilation and dysfunction, hypertrophy, or CHD, the leading diagnosis is cardiomyopathy or CHD followed by the descriptor LVNC., (Published on behalf of the European Society of Cardiology. © The Author(s) 2020.)
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- 2020
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18. Multivessel endovascular therapy for undiagnosed vascular type Ehlers-Danlos syndrome. Successful percutaneous transcatheter coil embolization of hepatic artery pseudoaneurysm with stenting of right renal and iliac arteries in emergency setting.
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Moramarco LP, Capodaglio CA, Quaretti P, Cionfoli N, Fiorina I, Disabella E, D'agostino AM, Urtis M, and Arbustini E
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Among Ehlers-Danlos syndromes, the vascular type is the most severe because of its vascular complications. Transcatheter embolization of medium-sized arteries has become the first-line therapy for life-threatening hemorrhage. Ongoing multiple lesions causing hemorrhagic or ischemic complications in the acute phase can challenge patient management. Multivessel endovascular treatment has never been reported. In this study, we report successful single-session treatment by coiling of a ruptured pseudoaneurysm of the hepatic artery with stenting of dissected right renal and iliac arteries in a 46-year-old female. Percutaneous transfemoral approach was gained and sealed with a plug-based closure device. Genetic disease was subsequently confirmed by molecular analysis., (© 2020 The Authors. Published by the British Institute of Radiology.)
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- 2020
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19. Hereditary muscle diseases and the heart: the cardiologist's perspective.
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Giuliani L, Di Toro A, Urtis M, Smirnova A, Concardi M, Favalli V, Serio A, Grasso M, and Arbustini E
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- 2020
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20. Relationship between coronary plaque morphology of the left anterior descending artery and 12 months clinical outcome: the CLIMA study.
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Prati F, Romagnoli E, Gatto L, La Manna A, Burzotta F, Ozaki Y, Marco V, Boi A, Fineschi M, Fabbiocchi F, Taglieri N, Niccoli G, Trani C, Versaci F, Calligaris G, Ruscica G, Di Giorgio A, Vergallo R, Albertucci M, Biondi-Zoccai G, Tamburino C, Crea F, Alfonso F, and Arbustini E
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- Aged, Aged, 80 and over, Coronary Angiography, Female, Follow-Up Studies, Humans, Male, Middle Aged, Predictive Value of Tests, Prognosis, Prospective Studies, Risk Factors, Time Factors, Coronary Artery Disease diagnosis, Coronary Vessels diagnostic imaging, Plaque, Atherosclerotic diagnosis, Tomography, Optical Coherence methods
- Abstract
Aims: The CLIMA study, on the relationship between coronary plaque morphology of the left anterior descending artery and twelve months clinical outcome, was designed to explore the predictive value of multiple high-risk plaque features in the same coronary lesion [minimum lumen area (MLA), fibrous cap thickness (FCT), lipid arc circumferential extension, and presence of optical coherence tomography (OCT)-defined macrophages] as detected by OCT. Composite of cardiac death and target segment myocardial infarction was the primary clinical endpoint., Methods and Results: From January 2013 to December 2016, 1003 patients undergoing OCT evaluation of the untreated proximal left anterior descending coronary artery in the context of clinically indicated coronary angiogram were prospectively enrolled at 11 independent centres (clinicaltrial.gov identifier NCT02883088). At 1-year, the primary clinical endpoint was observed in 37 patients (3.7%). In a total of 1776 lipid plaques, presence of MLA <3.5 mm2 [hazard ratio (HR) 2.1, 95% confidence interval (CI) 1.1-4.0], FCT <75 µm (HR 4.7, 95% CI 2.4-9.0), lipid arc circumferential extension >180° (HR 2.4, 95% CI 1.2-4.8), and OCT-defined macrophages (HR 2.7, 95% CI 1.2-6.1) were all associated with increased risk of the primary endpoint. The pre-specified combination of plaque features (simultaneous presence of the four OCT criteria in the same plaque) was observed in 18.9% of patients experiencing the primary endpoint and was an independent predictor of events (HR 7.54, 95% CI 3.1-18.6)., Conclusion: The simultaneous presence of four high-risk OCT plaque features was found to be associated with a higher risk of major coronary events., (© The Author(s) 2019. Published by Oxford University Press on behalf of the European Society of Cardiology.)
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- 2020
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21. Introductory editorial.
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Prati F, Arbustini E, and Albertucci M
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- 2019
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22. Genetics and clinics: current applications, limitations, and future developments.
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Di Toro A, Giuliani L, Favalli V, Di Giovannantonio M, Smirnova A, Grasso M, and Arbustini E
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- 2019
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23. RE: BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.
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Arbustini E, Sgarella A, Ferrari A, Grasso D, Cassani C, Lucioni M, Di Giulio G, and Grasso M
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- BRCA2 Protein genetics, Breast, Breast Neoplasms genetics, Female, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Humans, Male, Ovarian Neoplasms genetics, Codon, Terminator, Prostate
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- 2016
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24. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases.
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Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, Duboc D, Gimeno J, de Groote P, Imazio M, Heymans S, Klingel K, Komajda M, Limongelli G, Linhart A, Mogensen J, Moon J, Pieper PG, Seferovic PM, Schueler S, Zamorano JL, Caforio AL, and Charron P
- Subjects
- Cardiomyopathies etiology, Cardiomyopathies therapy, Cardiomyopathy, Dilated diagnosis, Cardiomyopathy, Dilated etiology, Cardiomyopathy, Dilated therapy, Diagnosis, Differential, Early Diagnosis, Humans, Multimodal Imaging methods, Myocarditis diagnosis, Pedigree, Risk Factors, Cardiomyopathies diagnosis
- Abstract
In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis and the institution of potential preventative measures. We also provide practical hints to identify subsets of the DCM syndrome where aetiology directed management has great clinical relevance., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2016. For permissions please email: journals.permissions@oup.com.)
- Published
- 2016
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25. Identification and quantification of macrophage presence in coronary atherosclerotic plaques by optical coherence tomography.
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Di Vito L, Agozzino M, Marco V, Ricciardi A, Concardi M, Romagnoli E, Gatto L, Calogero G, Tavazzi L, Arbustini E, and Prati F
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- Aged, Female, Humans, Immunohistochemistry, Male, Plaque, Atherosclerotic pathology, ROC Curve, Sampling Studies, Sensitivity and Specificity, Tissue and Organ Harvesting, Ultrasonography, Coronary Vessels pathology, Coronary Vessels ultrastructure, Macrophages ultrastructure, Plaque, Atherosclerotic diagnostic imaging, Tomography, Optical Coherence methods
- Abstract
Aims: Vulnerable plaques are characterized by a high macrophage content. We investigated the optical coherence tomography (OCT) capability of identifying coronary plaque macrophage presence using tissue property indexes., Methods and Results: Fifteen epicardial coronary arteries were imaged by OCT and subsequently analysed by histology. Correlating OCT-histological sections were identified and regions of interest (ROIs) were selected on both atherosclerotic plaques and normal appearing vessel tracts. OCT-derived tissue property indexes named normalized standard deviation (NSD), signal attenuation, and granulometry index were applied on ROIs to identify inflamed ROIs defined as a macrophage percentage >10 by histology. Forty-three paired samples (OCT frame and histology section) were considered suitable as ROIs for analysis. Eleven out of 43 ROIs were considered inflamed and the remaining 32 ROIs were non-inflamed on the basis of histological count of macrophage percentage. All OCT-derived tissue property indexes were positively correlated with macrophage percentage (P = 0.0001 for all). Receiver operating characteristic curve analysis showed that NSD, granulometry index, and signal attenuation had a significant area under the curve (area = 0.906, 0.804, and 0.793, respectively). A two-step algorithm requiring to first apply NSD with a cut-off value of 0.0570 followed by granulometry index was able to identify an inflamed ROI with a sensitivity of 100% and a specificity of 96.8%., Conclusion: OCT was able to identify and quantify macrophage presence in coronary artery specimens using tissue property indexes. NSD and granulometry index showed the highest accuracy in identifying a significant plaque inflammation, especially if used together in a two-step algorithm., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.)
- Published
- 2015
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26. Atlas of the clinical genetics of human dilated cardiomyopathy.
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Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, and Meder B
- Subjects
- Cardiomyopathy, Dilated diagnosis, Europe, Feasibility Studies, Female, Genetic Markers genetics, Genotype, Heterozygote, Humans, Male, Mutation genetics, Phenotype, Residence Characteristics, Cardiomyopathy, Dilated genetics, Sequence Analysis, DNA methods
- Abstract
Aim: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome these limitations and screened all DCM disease genes in a large cohort., Methods and Results: In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samples, we applied a standardized protocol for ultra-high coverage next-generation sequencing of 84 genes, leading to 99.1% coverage of the target region with at least 50-fold and a mean read depth of 2415. In this well characterized cohort, we find the highest number of known cardiomyopathy mutations in plakophilin-2, myosin-binding protein C-3, and desmoplakin. When we include yet unknown but predicted disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations is considerably high. Of note, we find that >38% of patients have compound or combined mutations and 12.8% have three or even more mutations. When comparing patients recruited in the eight participating European countries we find remarkably little differences in mutation frequencies and affected genes., Conclusion: This is to our knowledge, the first study that comprehensively investigated the genetics of DCM in a large-scale cohort and across a broad gene panel of the known DCM genes. Our results underline the high analytical quality and feasibility of Next-Generation Sequencing in clinical genetic diagnostics and provide a sound database of the genetic causes of DCM., (Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.)
- Published
- 2015
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27. A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
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Meder B, Rühle F, Weis T, Homuth G, Keller A, Franke J, Peil B, Lorenzo Bermejo J, Frese K, Huge A, Witten A, Vogel B, Haas J, Völker U, Ernst F, Teumer A, Ehlermann P, Zugck C, Friedrichs F, Kroemer H, Dörr M, Hoffmann W, Maisch B, Pankuweit S, Ruppert V, Scheffold T, Kühl U, Schultheiss HP, Kreutz R, Ertl G, Angermann C, Charron P, Villard E, Gary F, Isnard R, Komajda M, Lutz M, Meitinger T, Sinner MF, Wichmann HE, Krawczak M, Ivandic B, Weichenhan D, Gelbrich G, El-Mokhtari NE, Schreiber S, Felix SB, Hasenfuß G, Pfeufer A, Hübner N, Kääb S, Arbustini E, Rottbauer W, Frey N, Stoll M, and Katus HA
- Subjects
- Cardiomyopathy, Dilated physiopathology, Case-Control Studies, Female, Genetic Predisposition to Disease genetics, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Stroke Volume physiology, Cardiomyopathy, Dilated genetics, Chromosomes, Human, Pair 6 genetics, HLA-C Antigens genetics, Polymorphism, Single Nucleotide genetics
- Abstract
Aims: Dilated cardiomyopathy (DCM) is one of the leading causes for cardiac transplantations and accounts for up to one-third of all heart failure cases. Since extrinsic and monogenic causes explain only a fraction of all cases, common genetic variants are suspected to contribute to the pathogenesis of DCM, its age of onset, and clinical progression. By a large-scale case-control genome-wide association study we aimed here to identify novel genetic risk loci for DCM., Methods and Results: Applying a three-staged study design, we analysed more than 4100 DCM cases and 7600 controls. We identified and successfully replicated multiple single nucleotide polymorphism on chromosome 6p21. In the combined analysis, the most significant association signal was obtained for rs9262636 (P = 4.90 × 10(-9)) located in HCG22, which could again be replicated in an independent cohort. Taking advantage of expression quantitative trait loci (eQTL) as molecular phenotypes, we identified rs9262636 as an eQTL for several closely located genes encoding class I and class II major histocompatibility complex heavy chain receptors., Conclusion: The present study reveals a novel genetic susceptibility locus that clearly underlines the role of genetically driven, inflammatory processes in the pathogenesis of idiopathic DCM.
- Published
- 2014
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28. The need to modify patient selection to improve the benefits of implantable cardioverter-defibrillator for primary prevention of sudden death in non-ischaemic dilated cardiomyopathy.
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Disertori M, Quintarelli S, Mazzola S, Favalli V, Narula N, and Arbustini E
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- Algorithms, Cardiomyopathy, Dilated diagnosis, Cardiomyopathy, Dilated genetics, Cardiomyopathy, Dilated mortality, Cardiomyopathy, Dilated physiopathology, DNA Mutational Analysis, Death, Sudden, Cardiac etiology, Decision Support Techniques, Electric Countershock adverse effects, Electric Countershock mortality, Electrocardiography, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Practice Guidelines as Topic, Predictive Value of Tests, Risk Assessment, Risk Factors, Stroke Volume, Treatment Outcome, Ventricular Function, Left, Cardiomyopathy, Dilated therapy, Death, Sudden, Cardiac prevention & control, Defibrillators, Implantable, Electric Countershock instrumentation, Patient Selection, Primary Prevention instrumentation
- Abstract
Left ventricular ejection fraction (LVEF) ≤35% is a major determinant for implantable cardioverter-defibrillator (ICD) therapy for primary prevention of sudden death (SD) in patients with non-ischaemic dilated cardiomyopathy (DCM). However, as a risk marker for SD, low LVEF has limited sensibility and specificity. Selecting patients according to the current guidelines shows that most DCM patients do not actually benefit from ICD implantation and may suffer collateral effects and that many patients who are at risk of SD are not identified because a large proportion of SD patients exhibit only mildly depressed LVEF. Identifying patients who are at risk of SD on the sole basis of LVEF appears to be an over-simplification which does not maximize the benefit of ICD therapy. Owing to the complexity of the substrates underlying SD, multiple risk factors used in combination could probably predict the risk of SD better than any individual risk marker. Among non-invasive tests, microvolt T-wave alternans and cardiac magnetic resonance with late gadolinium enhancement may contribute to a better SD risk stratification by their high negative predictive value. Genetics may further contribute because approximately one-third of DCM patients have evidence of familial disease, and mutations in some known disease genes, including LMNA, have been associated with a high risk of SD. In this review, we critically analyse the current indications for ICD implantation and we explore existing knowledge about potentially predicting markers for selecting DCM patients who are at high and low risk of SD.
- Published
- 2013
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29. Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
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Caforio AL, Pankuweit S, Arbustini E, Basso C, Gimeno-Blanes J, Felix SB, Fu M, Heliö T, Heymans S, Jahns R, Klingel K, Linhart A, Maisch B, McKenna W, Mogensen J, Pinto YM, Ristic A, Schultheiss HP, Seggewiss H, Tavazzi L, Thiene G, Yilmaz A, Charron P, and Elliott PM
- Subjects
- Biomarkers blood, Biopsy methods, Diagnostic Imaging methods, Humans, Immunosuppressive Agents therapeutic use, Long-Term Care methods, Myocarditis etiology, Myocarditis therapy, Referral and Consultation, Myocarditis diagnosis
- Abstract
In this position statement of the ESC Working Group on Myocardial and Pericardial Diseases an expert consensus group reviews the current knowledge on clinical presentation, diagnosis and treatment of myocarditis, and proposes new diagnostic criteria for clinically suspected myocarditis and its distinct biopsy-proven pathogenetic forms. The aims are to bridge the gap between clinical and tissue-based diagnosis, to improve management and provide a common reference point for future registries and multicentre randomised controlled trials of aetiology-driven treatment in inflammatory heart muscle disease.
- Published
- 2013
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30. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases.
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Rapezzi C, Arbustini E, Caforio AL, Charron P, Gimeno-Blanes J, Heliö T, Linhart A, Mogensen J, Pinto Y, Ristic A, Seggewiss H, Sinagra G, Tavazzi L, and Elliott PM
- Subjects
- Age of Onset, Arrhythmias, Cardiac diagnosis, Atrioventricular Block diagnosis, Autoimmune Diseases genetics, Cardiomegaly diagnosis, Cardiomyopathies classification, Cardiomyopathies genetics, Clinical Laboratory Techniques methods, Creatine Kinase metabolism, Diagnostic Imaging methods, Electrocardiography, Genetic Predisposition to Disease genetics, Genetic Testing, Humans, Myocardial Infarction diagnosis, Paraproteinemias diagnosis, Pedigree, Phenotype, Physical Examination, Cardiomyopathies diagnosis
- Abstract
In 2008, The ESC Working Group on Myocardial and Pericardial Diseases proposed an updated classification of cardiomyopathies based on morphological and functional phenotypes and subcategories of familial/genetic and non-familial/non-genetic disease. In this position statement, we propose a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic 'red flags' that can be used to guide rational selection of specialized tests including genetic analysis. The basic premise is that the adoption of a cardiomyopathy-specific mindset which combines conventional cardiological assessment with non-cardiac and molecular parameters increases diagnostic accuracy and thus improves advice and treatment for patients and families.
- Published
- 2013
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31. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
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Villard E, Perret C, Gary F, Proust C, Dilanian G, Hengstenberg C, Ruppert V, Arbustini E, Wichter T, Germain M, Dubourg O, Tavazzi L, Aumont MC, DeGroote P, Fauchier L, Trochu JN, Gibelin P, Aupetit JF, Stark K, Erdmann J, Hetzer R, Roberts AM, Barton PJ, Regitz-Zagrosek V, Aslam U, Duboscq-Bidot L, Meyborg M, Maisch B, Madeira H, Waldenström A, Galve E, Cleland JG, Dorent R, Roizes G, Zeller T, Blankenberg S, Goodall AH, Cook S, Tregouet DA, Tiret L, Isnard R, Komajda M, Charron P, and Cambien F
- Subjects
- Adult, Apoptosis Regulatory Proteins, Chloride Channels genetics, Female, Genome-Wide Association Study, HSP27 Heat-Shock Proteins genetics, Heterozygote, Humans, Male, Middle Aged, Mutation, Missense genetics, Polymorphism, Single Nucleotide genetics, Adaptor Proteins, Signal Transducing genetics, Cardiomyopathy, Dilated genetics, Chromosomes, Human, Pair 1 genetics, Chromosomes, Human, Pair 10 genetics, Genetic Loci genetics, Heart Failure genetics
- Abstract
Aims: Dilated cardiomyopathy (DCM) is a major cause of heart failure with a high familial recurrence risk. So far, the genetics of DCM remains largely unresolved. We conducted the first genome-wide association study (GWAS) to identify loci contributing to sporadic DCM., Methods and Results: One thousand one hundred and seventy-nine DCM patients and 1108 controls contributed to the discovery phase. Pools of DNA stratified on disease status, population, age, and gender were constituted and used for testing association of DCM with 517 382 single nucleotide polymorphisms (SNPs). Three DCM-associated SNPs were confirmed by individual genotyping (P < 5.0 10(-7)), and two of them, rs10927875 and rs2234962, were replicated in independent samples (1165 DCM patients and 1302 controls), with P-values of 0.002 and 0.009, respectively. rs10927875 maps to a region on chromosome 1p36.13 which encompasses several genes among which HSPB7 has been formerly suggested to be implicated in DCM. The second identified locus involves rs2234962, a non-synonymous SNP (c.T757C, p. C151R) located within the sequence of BAG3 on chromosome 10q26. To assess whether coding mutations of BAG3 might cause monogenic forms of the disease, we sequenced BAG3 exons in 168 independent index cases diagnosed with familial DCM and identified four truncating and two missense mutations. Each mutation was heterozygous, present in all genotyped relatives affected by the disease and absent in a control group of 347 healthy individuals, strongly suggesting that these mutations are causing the disease., Conclusion: This GWAS identified two loci involved in sporadic DCM, one of them probably implicates BAG3. Our results show that rare mutations in BAG3 contribute to monogenic forms of the disease, while common variant(s) in the same gene are implicated in sporadic DCM.
- Published
- 2011
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32. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
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Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, and Tavazzi L
- Subjects
- Cardiomyopathies diagnosis, Cardiomyopathies prevention & control, Female, Humans, Mutation genetics, Pedigree, Pregnancy, Prenatal Diagnosis methods, Prognosis, Recurrence, Cardiomyopathies genetics, Genetic Counseling methods, Genetic Testing methods
- Abstract
Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family screening and genetic testing in families with a cardiomyopathy, and to provide key messages and suggestions for clinicians involved in their management.
- Published
- 2010
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33. Cardiovascular manifestations in men and women carrying a FBN1 mutation.
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Détaint D, Faivre L, Collod-Beroud G, Child AH, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Plauchu H, Robinson PN, Kiotsekoglou A, De Backer J, Adès L, Francke U, De Paepe A, Boileau C, and Jondeau G
- Subjects
- Adolescent, Adult, Child, Female, Fibrillin-1, Fibrillins, Genotype, Humans, Kaplan-Meier Estimate, Male, Middle Aged, Phenotype, Young Adult, Aortic Dissection genetics, Aortic Aneurysm genetics, Marfan Syndrome genetics, Microfilament Proteins genetics, Mitral Valve Prolapse genetics, Mutation genetics
- Abstract
Aims: In patients with Marfan syndrome and other type-1 fibrillinopathies, genetic testing is becoming more easily available, leading to the identification of mutations early in the course of the disease. This study evaluates the cardiovascular (CV) risk associated with the discovery of a fibrillin-1 (FBN1) mutation., Methods and Results: A total of 1,013 probands with pathogenic FBN1 mutations were included, among whom 965 patients [median age: 22 years (11-34), male gender 53%] had data suitable for analysis. The percentage of patients with an ascending aortic (AA) dilatation increased steadily with increasing age and reached 96% (95% CI: 94-97%) by 60 years. The presence of aortic events (dissection or prophylactic surgery) was rare before 20 years and then increased progressively, reaching 74% (95% CI: 67-81%) by 60 years. Compared with women, men were at higher risk for AA dilatation [≤ 30 years: 57% (95% CI: 52-63) vs. 50% (95% CI: 45-55), P = 0.0076] and aortic events [≤ 30 years: 21% (95% CI: 17-26) vs. 11% (95% CI: 8-16), P < 0.0001; adjusted HR: 1.4 (1.1-1.8), P = 0.005]. The prevalence of mitral valve (MV) prolapse [≤ 60 years: 77% (95% CI: 72-82)] and MV regurgitation [≤ 60 years: 61% (95% CI: 53-69)] also increased steadily with age, but surgery limited to the MV remained rare [≤ 60 years: 13% (95% CI: 8-21)]. No difference between genders was observed (for all P> 0.20). From 1985 to 2005 the prevalence of AA dilatation remained stable (P for trend = 0.88), whereas the percentage of patients with AA dissection significantly decreased (P for trend = 0.01)., Conclusion: The CV risk remains important in patients with an FBN1 gene mutation and is present throughout life, justifying regular aortic monitoring. Aortic dilatation or dissection should always trigger suspicion of a genetic background leading to thorough examination for extra-aortic features and comprehensive pedigree investigation.
- Published
- 2010
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34. Expert review document on methodology, terminology, and clinical applications of optical coherence tomography: physical principles, methodology of image acquisition, and clinical application for assessment of coronary arteries and atherosclerosis.
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Prati F, Regar E, Mintz GS, Arbustini E, Di Mario C, Jang IK, Akasaka T, Costa M, Guagliumi G, Grube E, Ozaki Y, Pinto F, and Serruys PW
- Subjects
- Calcinosis pathology, Calibration, Feasibility Studies, Humans, Plaque, Atherosclerotic pathology, Tomography, Optical Coherence adverse effects, Coronary Artery Disease pathology, Coronary Vessels pathology, Tomography, Optical Coherence methods
- Abstract
Optical coherence tomography (OCT) is a novel intravascular imaging modality, based on infrared light emission, that enables a high resolution arterial wall imaging, in the range of 10-20 microns. This feature of OCT allows the visualization of specific components of the atherosclerotic plaques. The aim of the present Expert Review Document is to address the methodology, terminology and clinical applications of OCT for qualitative and quantitative assessment of coronary arteries and atherosclerosis.
- Published
- 2010
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35. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.
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Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, and Villard E
- Subjects
- Adult, Animals, Cardiomyopathy, Hypertrophic genetics, Cells, Cultured, Female, Gene Expression, Heart Failure genetics, Heterozygote, Humans, Male, Myocytes, Cardiac, Pedigree, Rats, Transfection, Cardiomyopathy, Dilated genetics, Muscle Proteins genetics, Mutation, Missense genetics, Nuclear Proteins genetics, Repressor Proteins genetics
- Abstract
Aims: Dilated cardiomyopathy (DCM) is familial in approximately 30% of cases, and mutations have been identified in several genes. However, in a majority of familial cases, the responsible genes are still to be discovered. The ANKRD1 gene is over-expressed in heart failure in human and animal models. The encoded protein CARP interacts with partners such as myopalladin or titin, previously shown to be involved in DCM. We hypothesized that mutations in ANKRD1 could be responsible for DCM., Methods and Results: We sequenced the coding region of ANKRD1 from 231 independent DCM cases. We identified five missense mutations (three sporadic and two familial) absent from 400 controls and affecting highly conserved residues. Expression of the mutant CARP proteins after transfection in rat neonate cardiomyocytes indicated that most of them led to both significantly less repressor activity measured in a reporter gene assay and greater phenylephrin-induced hypertrophy, suggesting altered function of CARP mutant proteins., Conclusion: On the basis of genetic and functional analysis of CARP mutations, we have identified ANKRD1 as a new gene associated with DCM, accounting for approximately 2% of cases.
- Published
- 2009
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36. Usefulness of cardiac magnetic resonance in assessing the risk of ventricular arrhythmias and sudden death in patients with hypertrophic cardiomyopathy.
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Leonardi S, Raineri C, De Ferrari GM, Ghio S, Scelsi L, Pasotti M, Tagliani M, Valentini A, Dore R, Raisaro A, and Arbustini E
- Subjects
- Adult, Cardiomyopathy, Hypertrophic genetics, Female, Humans, Male, Middle Aged, Mutation, Retrospective Studies, Risk Assessment methods, Risk Factors, Tachycardia, Ventricular genetics, Cardiomyopathy, Hypertrophic complications, Death, Sudden, Cardiac prevention & control, Magnetic Resonance Angiography methods, Tachycardia, Ventricular diagnosis
- Abstract
Aims: To assess the relationship between cardiovascular magnetic resonance (CMR) parameters and both spontaneous ventricular tachycardia (VT) and risk of sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) patients., Methods and Results: One hundred and eight consecutive HCM patients (mean age 42 +/- 15 years, 76% males) underwent CMR evaluation and risk assessment. Delayed contrast enhancement (DCE) was quantified with a specifically designed score. Endpoints were either the presence of clinical VT/ventricular fibrillation (VF) or of acknowledged risk factors for SCD. Compared to patients without arrhythmia, those with VT/VF (n = 33) had a higher DCE score [median 8 (2-13) vs. 11 (6-20); P = 0.01]; DCE score was also the only independent predictor of VT/VF in the multivariable model. DCE score [median 6 (1-10.5) vs. 12 (6-18); P = 0.001], mean and maximal left ventricular (LV) wall thickness (MaxLVWT), as well as LV mass index were significantly greater among patients at risk for SCD (n = 51) compared with the remaining 57 patients at low risk. DCE score and MaxLVWT were independent predictors of SCD risk., Conclusion: In HCM patients several CMR parameters are associated with risk for SCD. A semi-quantitative index of DCE is a significant multivariable predictor of both clinical VT/VF and of risk for SCD and may contribute to risk assessment in borderline or controversial cases.
- Published
- 2009
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37. A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy.
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Friedrich FW, Bausero P, Sun Y, Treszl A, Krämer E, Juhr D, Richard P, Wegscheider K, Schwartz K, Brito D, Arbustini E, Waldenström A, Isnard R, Komajda M, Eschenhagen T, and Carrier L
- Subjects
- Adult, Age Distribution, Aged, Animals, Base Sequence, Calmodulin metabolism, Cardiomyopathy, Hypertrophic, Familial metabolism, Female, Gene Frequency, Genotype, Heterozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Myocytes, Cardiac metabolism, Polymorphism, Genetic, Promoter Regions, Genetic genetics, Rats, Transfection, Calmodulin genetics, Cardiomyopathy, Hypertrophic, Familial genetics
- Abstract
Aims: Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding sarcomeric proteins. Incomplete penetrance suggests the existence of modifier genes. Calmodulin (CaM) could be of importance given the key role of Ca(2+) for cardiac contractile function and growth. Any variant that affects CaM expression and/or function may impact on FHC clinical expression., Methods and Results: We screened the promoter region of human calmodulin III gene (CALM3) and identified a new -34T>A polymorphism with a T-allele frequency of 0.70. The distribution of CALM3 genotypes differed in 180 unrelated FHC patients carrying a known FHC mutation compared with 134 controls, with higher TT-genotype frequency (0.73 vs. 0.51) and lower frequencies of AT- (0.24 vs. 0.37) and AA genotypes (0.03 vs. 0.11; P = 0.0005). To study whether the -34T>A polymorphism could play a modifier role, patients' relatives including both affected and healthy carriers were added. Affected carriers had a 0.56 times higher odds of carrying a T allele than healthy carriers (P = 0.053). We then investigated whether the -34T>A polymorphism affects the promoter activity using luciferase reporter vectors containing either CALM3-T or CALM3-A promoters. The activity of CALM3-T was lower than CALM3-A in HEK293 cells (1.00 +/- 0.19 vs. 2.31 +/- 0.13, P = 0.00001) and in cardiomyocytes (0.96 +/- 0.10 vs. 1.33 +/- 0.08, P = 0.00727)., Conclusion: These data suggest that the -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy.
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- 2009
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38. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases.
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Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, and Keren A
- Subjects
- Europe, Humans, Societies, Medical, Cardiomyopathies classification, Cardiomyopathies diagnosis, Ventricular Dysfunction classification
- Abstract
In biology, classification systems are used to promote understanding and systematic discussion through the use of logical groups and hierarchies. In clinical medicine, similar principles are used to standardise the nomenclature of disease. For more than three decades, heart muscle diseases have been classified into primary or idiopathic myocardial diseases (cardiomyopathies) and secondary disorders that have similar morphological appearances, but which are caused by an identifiable pathology such as coronary artery disease or myocardial infiltration (specific heart muscle diseases). In this document, The European Society of Cardiology Working Group on Myocardial and Pericardial Diseases presents an update of the existing classification scheme. The aim is to help clinicians look beyond generic diagnostic labels in order to reach more specific diagnoses.
- Published
- 2008
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39. Obstructive intramural coronary amyloidosis: a distinct phenotype of cardiac amyloidosis that can cause acute heart failure.
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Pasotti M, Agozzino M, Concardi M, Merlini G, Rapezzi C, and Arbustini E
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- Aged, Amyloidosis pathology, Cardiomyopathy, Dilated pathology, Diagnostic Errors, Fatal Outcome, Humans, Male, Myocarditis diagnosis, Amyloidosis complications, Cardiomyopathy, Dilated complications, Heart Failure etiology
- Published
- 2006
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40. Enormous bi-atrial enlargement in a persistent idiopathic atrial standstill.
- Author
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Disertori M, Marini M, Cristoforetti A, Dallafior D, Nollo G, Centonze M, Ravelli F, Zeni P, Del Greco M, Gramegna L, Pasotti M, and Arbustini E
- Subjects
- Cardiomegaly pathology, Female, Heart Atria diagnostic imaging, Heart Atria pathology, Humans, Middle Aged, Radiography, Cardiomegaly diagnostic imaging, Mitral Valve Insufficiency diagnostic imaging
- Published
- 2005
- Full Text
- View/download PDF
41. Coronary atherosclerosis in end-stage idiopathic dilated cardiomyopathy: an innocent bystander?
- Author
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Repetto A, Dal Bello B, Pasotti M, Agozzino M, Viganò M, Klersy C, Tavazzi L, and Arbustini E
- Subjects
- Adult, Aged, Cardiomyopathy, Dilated pathology, Cardiomyopathy, Dilated surgery, Coronary Artery Disease pathology, Coronary Artery Disease surgery, Female, Heart Transplantation, Humans, Hyperlipidemias complications, Hyperlipidemias pathology, Male, Middle Aged, Prospective Studies, Risk Factors, Sex Factors, Cardiomyopathy, Dilated etiology, Coronary Artery Disease complications
- Abstract
Aims: Coronary atherosclerosis is occasionally found in the hearts of patients diagnosed with idiopathic dilated cardiomyopathy (IDCM), who have undergone heart transplantation (HTx). This study investigates the pathology of coronary trees in IDCM patients and correlates the findings with risk factors for atherosclerosis., Methods and Results: The coronary trees of hearts excised at transplantation from 55 IDCM patients [43 males, mean (+/-SD) age at diagnosis and HTx: 37.4+/-13.4 and 42.1+/-14.6 years, respectively] underwent systematic pathological investigation. The inclusion criteria were: interval between the last pre-HTx angiography and the HTx of <10 years and the absence of ischaemic events in between; the absence of ventricular scars at pathological study; optimal pre-HTx medical treatment, and no ventricular assist devices. The median time between the pre-HTx angiography and the HTx was 13 months (range: 1-93). Fifteen of the 55 patients (27%) had critical plaques in at least one of the 70 segments of the epicardial coronary tree. A multivariate statistical analysis showed that male sex, age, and dyslipidaemia were independent predictors of critical atherosclerosis., Conclusion: One-fourth of the patients with end-stage IDCM hearts excised at HTx (all with angiographically normal coronary arteries at first diagnosis) have bystander critical coronary atherosclerosis whose functional role (if any) deserves investigation.
- Published
- 2005
- Full Text
- View/download PDF
42. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology.
- Author
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Pelliccia A, Fagard R, Bjørnstad HH, Anastassakis A, Arbustini E, Assanelli D, Biffi A, Borjesson M, Carrè F, Corrado D, Delise P, Dorwarth U, Hirth A, Heidbuchel H, Hoffmann E, Mellwig KP, Panhuyzen-Goedkoop N, Pisani A, Solberg EE, van-Buuren F, Vanhees L, Blomstrom-Lundqvist C, Deligiannis A, Dugmore D, Glikson M, Hoff PI, Hoffmann A, Hoffmann E, Horstkotte D, Nordrehaug JE, Oudhof J, McKenna WJ, Penco M, Priori S, Reybrouck T, Senden J, Spataro A, and Thiene G
- Subjects
- Cardiovascular Diseases physiopathology, Humans, Medical History Taking methods, Physical Examination methods, Risk Assessment methods, Risk Factors, Cardiac Rehabilitation, Sports
- Published
- 2005
- Full Text
- View/download PDF
43. Cardiovascular pre-participation screening of young competitive athletes for prevention of sudden death: proposal for a common European protocol. Consensus Statement of the Study Group of Sport Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology.
- Author
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Corrado D, Pelliccia A, Bjørnstad HH, Vanhees L, Biffi A, Borjesson M, Panhuyzen-Goedkoop N, Deligiannis A, Solberg E, Dugmore D, Mellwig KP, Assanelli D, Delise P, van-Buuren F, Anastasakis A, Heidbuchel H, Hoffmann E, Fagard R, Priori SG, Basso C, Arbustini E, Blomstrom-Lundqvist C, McKenna WJ, and Thiene G
- Subjects
- Adolescent, Adult, Cardiomyopathy, Hypertrophic epidemiology, Child, Clinical Protocols, Death, Sudden, Cardiac epidemiology, Electrocardiography methods, Europe, Forecasting, Humans, Incidence, Medical History Taking methods, Physical Examination methods, Sex Distribution, Socioeconomic Factors, Cardiomyopathy, Hypertrophic diagnosis, Death, Sudden, Cardiac prevention & control, Mass Screening methods, Sports
- Abstract
The 1996 American Heart Association consensus panel recommendations stated that pre-participation cardiovascular screening for young competitive athletes is justifiable and compelling on ethical, legal, and medical grounds. The present article represents the consensus statement of the Study Group on Sports Cardiology of the Working Group on Cardiac Rehabilitation and Exercise Physiology and the Working Group on Myocardial and Pericardial diseases of the European Society of Cardiology, which comprises cardiovascular specialists and other physicians from different European countries with extensive clinical experience with young competitive athletes, as well as with pathological substrates of sudden death. The document takes note of the 25-year Italian experience on systematic pre-participation screening of competitive athletes and focuses on relevant issues, mostly regarding the relative risk, causes, and prevalence of sudden death in athletes; the efficacy, feasibility, and cost-effectiveness of population-based pre-participation cardiovascular screening; the key role of 12-lead ECG for identification of cardiovascular diseases such as cardiomyopathies and channelopathies at risk of sudden death during sports; and the potential of preventing fatal events. The main purpose of the consensus document is to reinforce the principle of the need for pre-participation medical clearance of all young athletes involved in organized sports programmes, on the basis of (i) the proven efficacy of systematic screening by 12-lead ECG (in addition to history and physical examination) to identify hypertrophic cardiomyopathy-the leading cause of sports-related sudden death-and to prevent athletic field fatalities; (ii) the potential screening ability in detecting other lethal cardiovascular diseases presenting with ECG abnormalities. The consensus document recommends the implementation of a common European screening protocol essentially based on 12-lead ECG.
- Published
- 2005
- Full Text
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44. Celiac disease in patients with sporadic and inherited cardiomyopathies and in their relatives.
- Author
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Not T, Faleschini E, Tommasini A, Repetto A, Pasotti M, Baldas V, Spano A, Sblattero D, Marzari R, Campana C, Gavazzi A, Tavazzi L, Biagi F, Roberto Corazza G, Ventura A, and Arbustini E
- Subjects
- Adolescent, Adult, Aged, Antibodies blood, Enzyme-Linked Immunosorbent Assay, Female, Humans, Immunoglobulin A blood, Immunoglobulin G blood, Male, Middle Aged, Pedigree, Cardiomyopathies genetics, Celiac Disease genetics, Transglutaminases immunology
- Abstract
Aims: To investigate celiac disease (CD) and related co-morbidity in patients with familial and sporadic cardiomyopathy and in their relatives., Methods and Results: We screened anti-human-tissue-transglutaminase (IgA and IgG anti-h-tTG) and anti-endomysial antibodies (AEAs) in 238 consecutive adult patients with inherited or sporadic dilated cardiomyopathy (DCM), 418 relatives, and 2000 healthy blood donors. HLADQ2-DQ8 was tested in tTG-positive subjects. The IgA-tTG-positive patients with cardiomyopathy underwent duodenal biopsy. Twenty-six subjects were tTG-positive: five DCM patients (2.1%), two of 28 (7.1%) and three of 390 (0.7%) relatives with and without echocardiographic abnormalities respectively, and 16 controls (0.8%). Twenty-two of 26 subjects were AEA-positive, and 25 HLA-positive. Of the five patients with cardiomyopathy and biopsy-proven CD, four suffered iron-deficiency anaemia. Two CD-positive DCM patients and two tTG-positive relatives were from families with inherited disease in which CD did not co-segregate with DCM. CONCLUSIONS; The higher prevalence of CD in patients with sporadic or inherited DCM, and of tTG-positive serology in relatives with echocardiographic abnormalities, suggests that immune-mediated mechanisms are active in subsets of patients/families. However, gluten intolerance cannot be considered causative since CD seems to be associated but not co-segregated with DCM in familial cases.
- Published
- 2003
- Full Text
- View/download PDF
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