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cardiomyopathy/dysplasia: an international task force consensus statement
Heart Failure Reviews, 2021
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-gene... more Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not explained by abnormal loading conditions or coronary artery disease. The clinical presentation can vary from asymptomatic to heart failure symptoms or sudden cardiac death (SCD) even in previously asymptomatic individuals. In the last 2 decades, there has been striking progress in the understanding of the complex genetic basis of DCM, with the discovery of additional genes and genotype-phenotype correlation studies. Rigorous clinical work-up of DCM patients, meticulous family screening, and the implementation of advanced imaging techniques pave the way for a more efficient and earlier diagnosis as well as more precise indications for implantable cardioverter defibrillator implantation and prevention of SCD. In the era of precision medicine, genotype-directed therapies have started to emerge. In this review, we focus on updates of the genetic background of DCM, characteristic phenotypes caused by recently described pathogenic variants, specific indications for prevention of SCD in those individuals and genotype-directed treatments under development. Finally, the latest developments in distinguishing athletic heart syndrome from subclinical DCM are described.
Circulation, 2010
Objective: Marathon running represents an aerobic, vigorous and competitive exercise. Aortic stif... more Objective: Marathon running represents an aerobic, vigorous and competitive exercise. Aortic stiffness and wave reflections are independent predictors of cardiovascular risk. Increased Intima Media...
European Heart Journal, 2011
Circulation: Genomic and Precision Medicine, 2020
Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsy... more Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe. Methods: Clinical and genetic data were collected in 16 cardiology centers from 8 European countries. Results: The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in me...
Journal of Electrocardiology, 2021
INTRODUCTION Data regarding the left atrial (LA) electroanatomical substrate in patients with hyp... more INTRODUCTION Data regarding the left atrial (LA) electroanatomical substrate in patients with hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF) are missing. In this electroanatomical mapping (EAM) study, we evaluated the extent of LA fibrosis and its impact on catheter ablation outcomes in patients with HCM and AF. MATERIALS AND METHODS High-density LA EAM was performed during AF in 28 consecutive patients with obstructive HCM and AF (42.9% displayed paroxysmal AF and 57.1% persistent AF). Propensity score (PS) matching analysis was performed to reduce the impact of potential confounding factors. PS were derived to match patients at a 1:1 ratio. Patients were matched according to age, sex and LA diameter. After PS, 28 non-HCM patients with AF were selected, and served as controls. Two different cut-off values of bipolar signal amplitude were investigated for fibrosis characterization (≤0.25 mV and ≤ 0.4 mV). HCM patients underwent pulmonary vein antral isolation (PVAI) and roof line, while non-HCM patients PVAI only. RESULTS After the 3-month blanking period, 10 HCM patients (35.7%) displayed atrial arrhythmia recurrence. HCM patients with arrhythmia recurrence showed significantly greater low voltage areas defined as either bipolar voltage ≤0.25 mV (22.5 ± 10% vs. 5.5 ± 6.4%, p = 0.001) or ≤ 0.4 mV (32 ± 13.9% vs. 5.9 ± 5.1%, p < 0.001). The presence of low voltage areas ≤0.4 mV greater than 14.1% of the total LA area also predicted arrhythmia recurrence with excellent sensitivity (100%) and specificity (100%). Univariate analysis revealed that the extent of LA fibrosis was the only predictor of AF recurrence. After PS matching with non-HCM patients, patients with HCM exhibited wider fibrotic regions ≤0.25 mV compared to non-HCM patients (p = 0.016). CONCLUSIONS High-density EAM reveals extensive LA fibrotic disease in patients with HCM, an event with certain implications in catheter ablation outcomes.
Trends in Cardiovascular Medicine, 2017
Publication of the DANISH randomized trial led to considerable debate, given that it demonstrated... more Publication of the DANISH randomized trial led to considerable debate, given that it demonstrated no survival benefit stemming from current implantable cardioverterdefibrillator (ICD) allocation criteria in patients with nonischemic dilated cardiomyopathy (NIDCM). Consequently, a thorough reconsideration of our approach to sudden cardiac death (SCD) risk stratification appears to be in order. NIDCM encompasses a wide spectrum of disease entities, often with differing arrhythmogenicity; however, in its kernel, is still defined by the fundamentals of electrophysiology that dictate that abnormal tissue, exhibiting altered electrophysiological properties is necessary for arrhythmogenesis, but not enough, given that formation of functional circuits is required. In this review article we will attempt a presentation of the current status in SCD risk stratification in NIDCM and introduce the concept of multifactorial tiered approach, bringing together noninvasive indices of arrhythmic potential and programmed ventricular stimulation, as an alternative approach, in order to finally delineate a potential basis for the design and realization of trials necessary to achieve a paradigm shift and improvement in NIDCM SCD risk stratification.
Cardiogenetics
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients ... more Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype–genotype correlations lead us towards more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD.
International Journal of Cardiology
Hellenic Journal of Cardiology
European Journal of Heart Failure
Hellenic Journal of Cardiology
International journal of cardiology, Mar 1, 2018
Sudden cardiac death (SCD) risk stratification in hypertrophic cardiomyopathy (HCM) in the contex... more Sudden cardiac death (SCD) risk stratification in hypertrophic cardiomyopathy (HCM) in the context of primary prevention remains suboptimal. The purpose of this study was to examine the additional contribution of programmed ventricular stimulation (PVS) on established risk assessment. Two-hundred-and-three consecutive patients with diagnosed HCM and ≥1 noninvasive risk factors were prospectively enrolled over 19years. Patients were risk stratified, submitted to PVS and received an implantable cardioverter-defibrillator (ICD) according to then-current American Heart Association (AHA) guidelines and inducibility. Participants were prospectively followed-up for primary endpoint occurrence (appropriate ICD therapy or SCD). Contemporary (2015) AHA and European Society of Cardiology (ESC) guidelines were retrospectively assessed. During a median follow-up period of 60months the primary endpoint occurred in 20 patients, 19 of whom were inducible and received an ICD. Overall, 79 patients (3...
International journal of cardiology, Apr 15, 2018
Dilated cardiomyopathy is part of the spectrum of heart failure which is a syndrome with certain ... more Dilated cardiomyopathy is part of the spectrum of heart failure which is a syndrome with certain morphological and functional characteristics. Although significant progress in the management of those patients has been achieved, seems that risk stratification and future treatments will be related to the specific pathological substrate.
cardiomyopathy/dysplasia: an international task force consensus statement
Heart Failure Reviews, 2021
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-gene... more Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not explained by abnormal loading conditions or coronary artery disease. The clinical presentation can vary from asymptomatic to heart failure symptoms or sudden cardiac death (SCD) even in previously asymptomatic individuals. In the last 2 decades, there has been striking progress in the understanding of the complex genetic basis of DCM, with the discovery of additional genes and genotype-phenotype correlation studies. Rigorous clinical work-up of DCM patients, meticulous family screening, and the implementation of advanced imaging techniques pave the way for a more efficient and earlier diagnosis as well as more precise indications for implantable cardioverter defibrillator implantation and prevention of SCD. In the era of precision medicine, genotype-directed therapies have started to emerge. In this review, we focus on updates of the genetic background of DCM, characteristic phenotypes caused by recently described pathogenic variants, specific indications for prevention of SCD in those individuals and genotype-directed treatments under development. Finally, the latest developments in distinguishing athletic heart syndrome from subclinical DCM are described.
Circulation, 2010
Objective: Marathon running represents an aerobic, vigorous and competitive exercise. Aortic stif... more Objective: Marathon running represents an aerobic, vigorous and competitive exercise. Aortic stiffness and wave reflections are independent predictors of cardiovascular risk. Increased Intima Media...
European Heart Journal, 2011
Circulation: Genomic and Precision Medicine, 2020
Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsy... more Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe. Methods: Clinical and genetic data were collected in 16 cardiology centers from 8 European countries. Results: The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in me...
Journal of Electrocardiology, 2021
INTRODUCTION Data regarding the left atrial (LA) electroanatomical substrate in patients with hyp... more INTRODUCTION Data regarding the left atrial (LA) electroanatomical substrate in patients with hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF) are missing. In this electroanatomical mapping (EAM) study, we evaluated the extent of LA fibrosis and its impact on catheter ablation outcomes in patients with HCM and AF. MATERIALS AND METHODS High-density LA EAM was performed during AF in 28 consecutive patients with obstructive HCM and AF (42.9% displayed paroxysmal AF and 57.1% persistent AF). Propensity score (PS) matching analysis was performed to reduce the impact of potential confounding factors. PS were derived to match patients at a 1:1 ratio. Patients were matched according to age, sex and LA diameter. After PS, 28 non-HCM patients with AF were selected, and served as controls. Two different cut-off values of bipolar signal amplitude were investigated for fibrosis characterization (≤0.25 mV and ≤ 0.4 mV). HCM patients underwent pulmonary vein antral isolation (PVAI) and roof line, while non-HCM patients PVAI only. RESULTS After the 3-month blanking period, 10 HCM patients (35.7%) displayed atrial arrhythmia recurrence. HCM patients with arrhythmia recurrence showed significantly greater low voltage areas defined as either bipolar voltage ≤0.25 mV (22.5 ± 10% vs. 5.5 ± 6.4%, p = 0.001) or ≤ 0.4 mV (32 ± 13.9% vs. 5.9 ± 5.1%, p < 0.001). The presence of low voltage areas ≤0.4 mV greater than 14.1% of the total LA area also predicted arrhythmia recurrence with excellent sensitivity (100%) and specificity (100%). Univariate analysis revealed that the extent of LA fibrosis was the only predictor of AF recurrence. After PS matching with non-HCM patients, patients with HCM exhibited wider fibrotic regions ≤0.25 mV compared to non-HCM patients (p = 0.016). CONCLUSIONS High-density EAM reveals extensive LA fibrotic disease in patients with HCM, an event with certain implications in catheter ablation outcomes.
Trends in Cardiovascular Medicine, 2017
Publication of the DANISH randomized trial led to considerable debate, given that it demonstrated... more Publication of the DANISH randomized trial led to considerable debate, given that it demonstrated no survival benefit stemming from current implantable cardioverterdefibrillator (ICD) allocation criteria in patients with nonischemic dilated cardiomyopathy (NIDCM). Consequently, a thorough reconsideration of our approach to sudden cardiac death (SCD) risk stratification appears to be in order. NIDCM encompasses a wide spectrum of disease entities, often with differing arrhythmogenicity; however, in its kernel, is still defined by the fundamentals of electrophysiology that dictate that abnormal tissue, exhibiting altered electrophysiological properties is necessary for arrhythmogenesis, but not enough, given that formation of functional circuits is required. In this review article we will attempt a presentation of the current status in SCD risk stratification in NIDCM and introduce the concept of multifactorial tiered approach, bringing together noninvasive indices of arrhythmic potential and programmed ventricular stimulation, as an alternative approach, in order to finally delineate a potential basis for the design and realization of trials necessary to achieve a paradigm shift and improvement in NIDCM SCD risk stratification.
Cardiogenetics
Genetic testing plays an increasing diagnostic and prognostic role in the management of patients ... more Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype–genotype correlations lead us towards more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD.
International Journal of Cardiology
Hellenic Journal of Cardiology
European Journal of Heart Failure
Hellenic Journal of Cardiology
International journal of cardiology, Mar 1, 2018
Sudden cardiac death (SCD) risk stratification in hypertrophic cardiomyopathy (HCM) in the contex... more Sudden cardiac death (SCD) risk stratification in hypertrophic cardiomyopathy (HCM) in the context of primary prevention remains suboptimal. The purpose of this study was to examine the additional contribution of programmed ventricular stimulation (PVS) on established risk assessment. Two-hundred-and-three consecutive patients with diagnosed HCM and ≥1 noninvasive risk factors were prospectively enrolled over 19years. Patients were risk stratified, submitted to PVS and received an implantable cardioverter-defibrillator (ICD) according to then-current American Heart Association (AHA) guidelines and inducibility. Participants were prospectively followed-up for primary endpoint occurrence (appropriate ICD therapy or SCD). Contemporary (2015) AHA and European Society of Cardiology (ESC) guidelines were retrospectively assessed. During a median follow-up period of 60months the primary endpoint occurred in 20 patients, 19 of whom were inducible and received an ICD. Overall, 79 patients (3...
International journal of cardiology, Apr 15, 2018
Dilated cardiomyopathy is part of the spectrum of heart failure which is a syndrome with certain ... more Dilated cardiomyopathy is part of the spectrum of heart failure which is a syndrome with certain morphological and functional characteristics. Although significant progress in the management of those patients has been achieved, seems that risk stratification and future treatments will be related to the specific pathological substrate.