Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae103
Marco Schiavone, Claudio Tondo
Pulsed field ablation (PFA) offers a novel approach to treating atrial fibrillation, demonstrating promising efficacy and safety. Unlike traditional thermal ablation techniques like radiofrequency or cryoablation, PFA uses non-thermal irreversible electroporation to selectively target myocardial tissue, minimizing damage to surrounding structures such as the oesophagus, phrenic nerve, and coronary arteries. Initial studies indicate that PFA is effective in achieving durable pulmonary vein isolation and posterior wall isolation, with a low incidence of serious complications. However, more long-term clinical data are needed to further confirm its efficacy.
{"title":"Pulsed field ablation in atrial fibrillation ablation: where are we and where are we going?","authors":"Marco Schiavone, Claudio Tondo","doi":"10.1093/eurheartjsupp/suae103","DOIUrl":"10.1093/eurheartjsupp/suae103","url":null,"abstract":"<p><p>Pulsed field ablation (PFA) offers a novel approach to treating atrial fibrillation, demonstrating promising efficacy and safety. Unlike traditional thermal ablation techniques like radiofrequency or cryoablation, PFA uses non-thermal irreversible electroporation to selectively target myocardial tissue, minimizing damage to surrounding structures such as the oesophagus, phrenic nerve, and coronary arteries. Initial studies indicate that PFA is effective in achieving durable pulmonary vein isolation and posterior wall isolation, with a low incidence of serious complications. However, more long-term clinical data are needed to further confirm its efficacy.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i167-i170"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Electrocardiogram (ECG) may play a crucial role in the diagnosis of left-sided variants of desmosomal arrhythmogenic cardiomyopathies. This article discusses the most common ECG changes, such as T-wave inversion and low QRS voltages, and new ECG signs such as Q-waves, low voltages in specific leads, posterior fascicle block, and R/S ratio ≥ 0.5 in V1. In addition, ventricular arrhythmias have peculiar features in these patients. Electrocardiogram may be an early marker of this insidious cardiomyopathy and allow to avoid sudden cardiac death often in young people. Electrocardiogram abnormalities may also be indicators of disease evolution over time.
{"title":"The diagnostic value of electrocardiogram in the left variants of desmosomal arrhythmogenic cardiomyopathy.","authors":"Leonardo Calò, Federica Toto, Germana Panattoni, Fabiana Romeo, Armando Fusco, Matteo Stefanini, Elisa Silvetti, Annamaria Martino, Elisa Fedele, Ludovica Danza, Chiara Lanzillo, Stefano Canestrelli, Emanuele Canali, Pellegrino Ciampi, Alessandro Politano, Cinzia Crescenzi","doi":"10.1093/eurheartjsupp/suae110","DOIUrl":"10.1093/eurheartjsupp/suae110","url":null,"abstract":"<p><p>Electrocardiogram (ECG) may play a crucial role in the diagnosis of left-sided variants of desmosomal arrhythmogenic cardiomyopathies. This article discusses the most common ECG changes, such as T-wave inversion and low QRS voltages, and new ECG signs such as Q-waves, low voltages in specific leads, posterior fascicle block, and R/S ratio ≥ 0.5 in V1. In addition, ventricular arrhythmias have peculiar features in these patients. Electrocardiogram may be an early marker of this insidious cardiomyopathy and allow to avoid sudden cardiac death often in young people. Electrocardiogram abnormalities may also be indicators of disease evolution over time.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i83-i87"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae108
Domenico Corrado, Francesca Graziano, Barbara Bauce, Maria Bueno Marinas, Chiara Calore, Rudy Celeghin, Alberto Cipriani, Monica De Gaspari, Manuel De Lazzari, Federico Migliore, Martina Perazzolo Marra, Kalliopi Pilichou, Ilaria Rigato, Stefania Rizzo, Annalisa Angelini, Alessandro Zorzi, Gaetano Thiene, Cristina Basso
The newly proposed classification of cardiomyopathies, referred to as 'the Padua Classification', is based on both pathobiological basis (genetics, molecular biology, and pathology) and clinical features (morpho-functional and structural ventricular remodelling as evidenced by cardiac magnetic resonance). Cardiomyopathies are grouped into tree main categories and characterized by a designation combining both 'anatomical' and 'functional' features: hypertrophic/restrictive, dilated/hypokinetic, and scarring/arrhythmogenic; each cardiomyopathy group includes either genetic or non-genetic aetiologic variants. This novel approach aims to enhance the diagnostic accuracy and to support 'disease-specific' therapeutic strategies, with the objective to improve patient management and outcome.
{"title":"The 'Padua classification' of cardiomyopathies into three groups: hypertrophic/restrictive, dilated/hypokinetic, and scarring/arrhythmogenic.","authors":"Domenico Corrado, Francesca Graziano, Barbara Bauce, Maria Bueno Marinas, Chiara Calore, Rudy Celeghin, Alberto Cipriani, Monica De Gaspari, Manuel De Lazzari, Federico Migliore, Martina Perazzolo Marra, Kalliopi Pilichou, Ilaria Rigato, Stefania Rizzo, Annalisa Angelini, Alessandro Zorzi, Gaetano Thiene, Cristina Basso","doi":"10.1093/eurheartjsupp/suae108","DOIUrl":"10.1093/eurheartjsupp/suae108","url":null,"abstract":"<p><p>The newly proposed classification of cardiomyopathies, referred to as 'the Padua Classification', is based on both pathobiological basis (genetics, molecular biology, and pathology) and clinical features (morpho-functional and structural ventricular remodelling as evidenced by cardiac magnetic resonance). Cardiomyopathies are grouped into tree main categories and characterized by a designation combining both 'anatomical' and 'functional' features: hypertrophic/restrictive, dilated/hypokinetic, and scarring/arrhythmogenic; each cardiomyopathy group includes either genetic or non-genetic aetiologic variants. This novel approach aims to enhance the diagnostic accuracy and to support 'disease-specific' therapeutic strategies, with the objective to improve patient management and outcome.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i73-i82"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae114
Andrea Mazzanti, Deni Kukavica, Alessandro Trancuccio, Gabriele G Scilabra, Lucia Coppini, Valerio Pergola, Erika Tempo, Gianluca Pili, Carlo Napolitano, Silvia G Priori
Advances in understanding the genetic architecture and novel imaging techniques have profoundly impacted research on arrhythmogenic right ventricular cardiomyopathy (ARVC). As knowledge of ARVC has evolved, so has its classification: originally termed "arrhythmogenic right ventricular dysplasia", it was later broadened to "arrhythmogenic cardiomyopathy" (ACM) to include left ventricular forms. However, the 2023 European Society of Cardiology guidelines advocate reintroducing ARVC for fibro-fatty right ventricular disease and adopting "non-dilated left ventricular cardiomyopathy" for left-sided phenotypes previously labelled as ACM variants. Genetic testing has become critical in ARVC diagnosis, particularly for identifying mutations in desmosomal genes (e.g., PKP2, PKP2, PKP2, PKP2, PKP2), which are the primary genetic contributors to ARVC and inform family screening and diagnostic decisions. Recent expert consensus confirmed that only PKP2, PKP2, and PKP2 gene mutations among non-desmosomal genes had sufficient evidence to suggest a causative relationship. While genotype-specific risk assessment models are being developed, at present, genetic background does not represent an independent risk factor for patients with ARVC. Novel gene therapies, particularly AAV-mediated PKP2 gene replacement, have recently been demonstrated to be useful in reversing ARVC phenotypes in preclinical models. FDA-approved trials are currently evaluating PKP2-targeted therapies, and CRISPR/Cas9 methods are being explored for PKP2-R14del mutations. Overall, current evidence supports distinct gene-specific manifestations within ARVC, aligning clinical phenotypes with specific genetic variants. This progress points to a future in which risk stratification and management are personalized through gene- and mutation-specific approaches, advancing the potential for precision medicine in ARVC care.
{"title":"Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?","authors":"Andrea Mazzanti, Deni Kukavica, Alessandro Trancuccio, Gabriele G Scilabra, Lucia Coppini, Valerio Pergola, Erika Tempo, Gianluca Pili, Carlo Napolitano, Silvia G Priori","doi":"10.1093/eurheartjsupp/suae114","DOIUrl":"10.1093/eurheartjsupp/suae114","url":null,"abstract":"<p><p>Advances in understanding the genetic architecture and novel imaging techniques have profoundly impacted research on arrhythmogenic right ventricular cardiomyopathy (ARVC). As knowledge of ARVC has evolved, so has its classification: originally termed \"arrhythmogenic right ventricular dysplasia\", it was later broadened to \"arrhythmogenic cardiomyopathy\" (ACM) to include left ventricular forms. However, the 2023 European Society of Cardiology guidelines advocate reintroducing ARVC for fibro-fatty right ventricular disease and adopting \"non-dilated left ventricular cardiomyopathy\" for left-sided phenotypes previously labelled as ACM variants. Genetic testing has become critical in ARVC diagnosis, particularly for identifying mutations in desmosomal genes (e.g., <i>PKP2</i>, <i>PKP2</i>, <i>PKP2</i>, <i>PKP2</i>, <i>PKP2</i>), which are the primary genetic contributors to ARVC and inform family screening and diagnostic decisions. Recent expert consensus confirmed that only <i>PKP2</i>, <i>PKP2</i>, and <i>PKP2</i> gene mutations among non-desmosomal genes had sufficient evidence to suggest a causative relationship. While genotype-specific risk assessment models are being developed, at present, genetic background does not represent an independent risk factor for patients with ARVC. Novel gene therapies, particularly AAV-mediated <i>PKP2</i> gene replacement, have recently been demonstrated to be useful in reversing ARVC phenotypes in preclinical models. FDA-approved trials are currently evaluating <i>PKP2</i>-targeted therapies, and CRISPR/Cas9 methods are being explored for <i>PKP2</i>-R14del mutations. Overall, current evidence supports distinct gene-specific manifestations within ARVC, aligning clinical phenotypes with specific genetic variants. This progress points to a future in which risk stratification and management are personalized through gene- and mutation-specific approaches, advancing the potential for precision medicine in ARVC care.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i98-i102"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae097
Francesco Cicogna, Emanuele Canali, Oreste Lanza, Ilaria Jacomelli, Germana Panattoni, Alessandro Fagagnini, Ermenegildo De Ruvo, Leonardo Calò
The use of implantable cardiac monitors (ICMs) has gradually entered clinical practice in various fields. In addition to the consolidated indications in the study of syncope, cryptogenic stroke and in the management of patients with arrhythmias (suspected or defined), today a possible role for these devices in patients with heart failure (HF) is emerging. The rationale for the use of these devices in HF can be identified in three key areas: (i) identification of silent atrial fibrillation and reduction of the risk of stroke, (ii) stratification of the risk of brady-tachy arrhythmias and consequent reduction of the risk of sudden death, and (iii) identification of patients at risk of imminent exacerbation of HF and their early management with reduction of hospitalizations and episodes of clinical deterioration. For each of these areas, there are conflicting data regarding the real usefulness of ICMs; however, it is reasonable to hypothesize that the use of these devices, under certain conditions, may be useful in patients with HF. The adequate selection of patients to be candidates for this strategy is important. The choice of tools and the availability of an organization that allows the possibility of managing these patients remotely also play an essential role. In any case, case-control studies are needed to establish whether this tool can be truly useful in HF.
{"title":"Implantable cardiac monitor in heart failure: just a toy or a useful tool?","authors":"Francesco Cicogna, Emanuele Canali, Oreste Lanza, Ilaria Jacomelli, Germana Panattoni, Alessandro Fagagnini, Ermenegildo De Ruvo, Leonardo Calò","doi":"10.1093/eurheartjsupp/suae097","DOIUrl":"10.1093/eurheartjsupp/suae097","url":null,"abstract":"<p><p>The use of implantable cardiac monitors (ICMs) has gradually entered clinical practice in various fields. In addition to the consolidated indications in the study of syncope, cryptogenic stroke and in the management of patients with arrhythmias (suspected or defined), today a possible role for these devices in patients with heart failure (HF) is emerging. The rationale for the use of these devices in HF can be identified in three key areas: (i) identification of silent atrial fibrillation and reduction of the risk of stroke, (ii) stratification of the risk of brady-tachy arrhythmias and consequent reduction of the risk of sudden death, and (iii) identification of patients at risk of imminent exacerbation of HF and their early management with reduction of hospitalizations and episodes of clinical deterioration. For each of these areas, there are conflicting data regarding the real usefulness of ICMs; however, it is reasonable to hypothesize that the use of these devices, under certain conditions, may be useful in patients with HF. The adequate selection of patients to be candidates for this strategy is important. The choice of tools and the availability of an organization that allows the possibility of managing these patients remotely also play an essential role. In any case, case-control studies are needed to establish whether this tool can be truly useful in HF.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i122-i125"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae100
Germana Panattoni, Pietro Desimone, Federica Toto, Federica Meringolo, Ilaria Jacomelli, Marco Rebecchi, Francesco Cicogna, Leonardo Calò
Cardiovascular diseases (CVDs) remain a major cause of morbidity and mortality worldwide. The European Society of Cardiology Guidelines encourage the use of risk prediction models to enhance an adequate management of cardiovascular risk factors and the implementation of healthy behaviours. In primary prevention, estimating CVD risk is used to identify patients at high risk in order to enhance preventive strategies and decrease the incidence of unfavourable events and pre-mature cardiovascular deaths. Risk models integrate information on several conventional risk factors and estimate individual risk over a 10-year period. In addition to conventional risk factors, emerging non-traditional markers should be considered and mentioned in risk stratification. In secondary prevention, optimal management of patients include evaluation of residual CVD risk. The 10-year risk of recurrent events is not the same for all patients. The identification of high-risk patients is mandatory to prevent recurrent events and to allow to engage intensive treatments and follow-up strategies, representing an opportunity for major public health gain. This review provides a guide to evaluate which CVD risk score is appropriate for use in different settings in clinical practice.
{"title":"Cardiovascular risk assessment in daily clinical practice: when and how to use a risk score.","authors":"Germana Panattoni, Pietro Desimone, Federica Toto, Federica Meringolo, Ilaria Jacomelli, Marco Rebecchi, Francesco Cicogna, Leonardo Calò","doi":"10.1093/eurheartjsupp/suae100","DOIUrl":"10.1093/eurheartjsupp/suae100","url":null,"abstract":"<p><p>Cardiovascular diseases (CVDs) remain a major cause of morbidity and mortality worldwide. The European Society of Cardiology Guidelines encourage the use of risk prediction models to enhance an adequate management of cardiovascular risk factors and the implementation of healthy behaviours. In primary prevention, estimating CVD risk is used to identify patients at high risk in order to enhance preventive strategies and decrease the incidence of unfavourable events and pre-mature cardiovascular deaths. Risk models integrate information on several conventional risk factors and estimate individual risk over a 10-year period. In addition to conventional risk factors, emerging non-traditional markers should be considered and mentioned in risk stratification. In secondary prevention, optimal management of patients include evaluation of residual CVD risk. The 10-year risk of recurrent events is not the same for all patients. The identification of high-risk patients is mandatory to prevent recurrent events and to allow to engage intensive treatments and follow-up strategies, representing an opportunity for major public health gain. This review provides a guide to evaluate which CVD risk score is appropriate for use in different settings in clinical practice.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i16-i21"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae106
Gaetano Thiene
Telling story of myocarditis is characterized by discoveries and inventions. The invention of the microscope opened new avenues in medicine, with the observation of myocardial inflammation by Carl Ludwig Alfred Fiedler. Rudolph Virchow discovered that cells are the elementary units. Karl Albert Ludwig Aschoff first reported rheumatic pancarditis. Gilbert Dallford found enterovirus in the faeces of children, who died suddenly in the village of Coxsackie. Werner Forssmann entered in his own right ventricle with a urologic catheter via the left radial vein. Endomyocardial biopsy, via the femoral or jugular veins, made possible to take away myocardial samples in vivo, for diagnosis of myocarditis or cardiac rejection of transplanted heart. The invention of polymerase chain reaction by Kary Mullis allowed to achieve diagnosis of concealed infections and genetically determined cardiomyopathies. Myocarditis, a significant cause of sudden death, was found to be frequently ascribed to viruses. Cytotoxicity of Coxsackievirus B was proved to consist on released protease 2, encoded by virus genome and cleaving dystrophin. RNA (Coxsackie) and DNA (adenovirus) viruses share a common receptor. Cardiac magnetic resonance revealed to be sensitive and specific in the diagnosis of myocarditis by detecting myocardial oedema. However, it is unable to establish the histotype. The onset of myocarditis may be fulminant; however, extracorporeal membrane oxygenation, invented by Robert Bartlett, allows heart rest, while replacing cardiac contractility. High rates of survival have been achieved, probably because of mild myocardial damage.
{"title":"Myocarditis diagnosis: From light microscope to molecular analysis and cardiac magnetic resonance.","authors":"Gaetano Thiene","doi":"10.1093/eurheartjsupp/suae106","DOIUrl":"10.1093/eurheartjsupp/suae106","url":null,"abstract":"<p><p>Telling story of myocarditis is characterized by discoveries and inventions. The invention of the microscope opened new avenues in medicine, with the observation of myocardial inflammation by Carl Ludwig Alfred Fiedler. Rudolph Virchow discovered that cells are the elementary units. Karl Albert Ludwig Aschoff first reported rheumatic pancarditis. Gilbert Dallford found enterovirus in the faeces of children, who died suddenly in the village of Coxsackie. Werner Forssmann entered in his own right ventricle with a urologic catheter via the left radial vein. Endomyocardial biopsy, via the femoral or jugular veins, made possible to take away myocardial samples <i>in vivo</i>, for diagnosis of myocarditis or cardiac rejection of transplanted heart. The invention of polymerase chain reaction by Kary Mullis allowed to achieve diagnosis of concealed infections and genetically determined cardiomyopathies. Myocarditis, a significant cause of sudden death, was found to be frequently ascribed to viruses. Cytotoxicity of Coxsackievirus B was proved to consist on released protease 2, encoded by virus genome and cleaving dystrophin. RNA (Coxsackie) and DNA (adenovirus) viruses share a common receptor. Cardiac magnetic resonance revealed to be sensitive and specific in the diagnosis of myocarditis by detecting myocardial oedema. However, it is unable to establish the histotype. The onset of myocarditis may be fulminant; however, extracorporeal membrane oxygenation, invented by Robert Bartlett, allows heart rest, while replacing cardiac contractility. High rates of survival have been achieved, probably because of mild myocardial damage.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i61-i66"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836729/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae098
Marika Martini, Ilaria Rigato, Marta Masini, Manuel De Lazzari, Giulia Mattesi, Kalliopi Pilichou, Raimondo Pittorru, Federico Migliore, Barbara Bauce
Almost 40 years after the description of arrhythmogenic cardiomyopathy (ACM), arrhythmic risk stratification remains central to patient management. Antiarrhythmic therapy may involve the use of antiarrhythmic drugs as well as invasive tools such as catheter ablation, with the implantation of an implantable cardioverter defibrillator being of utmost importance. Given the wide phenotypic variability of ACM, the first step in arrhythmic risk stratification requires a thorough assessment of clinical, morphological, and electrical parameters. Moreover, in the last years, genetic testing has become increasingly important, not only for family screening but also in determining prognosis. Finally, data from large series of ACM patients have led to the creation of risk calculators, which are now available online for the medical community. While newly available methods for stratifying arrhythmic risk can be useful, the thoughtful clinical decision-making by clinicians with specific expertise in cardiomyopathies remains of fundamental importance. Additionally, as ACM is a progressive disease, arrhythmic risk stratification should be periodically revised based on newly emerging clinical and instrumental parameters.
{"title":"Risk stratification in arrhythmogenic cardiomyopathy: scoring or personalized medicine?","authors":"Marika Martini, Ilaria Rigato, Marta Masini, Manuel De Lazzari, Giulia Mattesi, Kalliopi Pilichou, Raimondo Pittorru, Federico Migliore, Barbara Bauce","doi":"10.1093/eurheartjsupp/suae098","DOIUrl":"10.1093/eurheartjsupp/suae098","url":null,"abstract":"<p><p>Almost 40 years after the description of arrhythmogenic cardiomyopathy (ACM), arrhythmic risk stratification remains central to patient management. Antiarrhythmic therapy may involve the use of antiarrhythmic drugs as well as invasive tools such as catheter ablation, with the implantation of an implantable cardioverter defibrillator being of utmost importance. Given the wide phenotypic variability of ACM, the first step in arrhythmic risk stratification requires a thorough assessment of clinical, morphological, and electrical parameters. Moreover, in the last years, genetic testing has become increasingly important, not only for family screening but also in determining prognosis. Finally, data from large series of ACM patients have led to the creation of risk calculators, which are now available online for the medical community. While newly available methods for stratifying arrhythmic risk can be useful, the thoughtful clinical decision-making by clinicians with specific expertise in cardiomyopathies remains of fundamental importance. Additionally, as ACM is a progressive disease, arrhythmic risk stratification should be periodically revised based on newly emerging clinical and instrumental parameters.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i36-i39"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae107
Mario Urtis, Marilena Tagliani, Davide Bondavalli, Chiara Paganini, Claudia Cavaliere, Viviana Vilardo, Edward Buccieri, Antonio Tescari, Michela Ferrari, Eloisa Arbustini
The diagnostic work-up of cardiovascular genetic diseases is emerging as a reference model for precision (cause and phenotype) and personalized medicine (tailored individual management). This approach is expanding across all areas of cardiovascular medicine, ranging from monogenic diseases to multifactorial disorders where 'risk factors' such as familial hypercholesterolaemia may play a role in the risk profile. In this context, cardiomyopathies provide an ideal reference because they are monogenic yet genetically heterogeneous diseases, much like many other cardiovascular genetic disorders. In this model, the genetic path starts with deep phenotyping of the patient and relatives and progresses with genetic testing including extensive multigene panels, up to whole-exome sequencing and whole-genome sequencing. Although genetic work-ups are increasingly successful, several unresolved challenges and limitations remain. These include the interpretation and reinterpretation of variants, as many pre-American College of Medical Genetics variants previously classified as likely pathogenic or pathogenic are now recognized as variants of uncertain significance or benign/likely benign; pathogenic variants missed with short-read next generation sequencing (NGS) technologies (e.g. deep intronic variants or Copy Number Variations); gene-specific issues such as pseudogenes and pseudo-exons; and differing interpretations of pathogenicity for the same gene defects by commercial pipelines. Despite widespread NGS-based testing, about half of suspected Mendelian conditions still lack a precise molecular diagnosis. New organizational models are needed to integrate emerging knowledge and innovations incorporating both clinical and genetic data into intelligent platforms that may support shared management pathways.
{"title":"The contemporary role of genetics in cardiovascular medicine: from phenotypes to precision diagnoses.","authors":"Mario Urtis, Marilena Tagliani, Davide Bondavalli, Chiara Paganini, Claudia Cavaliere, Viviana Vilardo, Edward Buccieri, Antonio Tescari, Michela Ferrari, Eloisa Arbustini","doi":"10.1093/eurheartjsupp/suae107","DOIUrl":"10.1093/eurheartjsupp/suae107","url":null,"abstract":"<p><p>The diagnostic work-up of cardiovascular genetic diseases is emerging as a reference model for precision (cause and phenotype) and personalized medicine (tailored individual management). This approach is expanding across all areas of cardiovascular medicine, ranging from monogenic diseases to multifactorial disorders where 'risk factors' such as familial hypercholesterolaemia may play a role in the risk profile. In this context, cardiomyopathies provide an ideal reference because they are monogenic yet genetically heterogeneous diseases, much like many other cardiovascular genetic disorders. In this model, the genetic path starts with deep phenotyping of the patient and relatives and progresses with genetic testing including extensive multigene panels, up to whole-exome sequencing and whole-genome sequencing. Although genetic work-ups are increasingly successful, several unresolved challenges and limitations remain. These include the interpretation and reinterpretation of variants, as many pre-American College of Medical Genetics variants previously classified as likely pathogenic or pathogenic are now recognized as variants of uncertain significance or benign/likely benign; pathogenic variants missed with short-read next generation sequencing (NGS) technologies (e.g. deep intronic variants or Copy Number Variations); gene-specific issues such as pseudogenes and pseudo-exons; and differing interpretations of pathogenicity for the same gene defects by commercial pipelines. Despite widespread NGS-based testing, about half of suspected Mendelian conditions still lack a precise molecular diagnosis. New organizational models are needed to integrate emerging knowledge and innovations incorporating both clinical and genetic data into intelligent platforms that may support shared management pathways.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i67-i72"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-19eCollection Date: 2025-02-01DOI: 10.1093/eurheartjsupp/suae092
Giovanna Manzi, Tommaso Recchioni, Alexandra Mihai, Paolo Severino, Lucia Ilaria Birtolo, Domenico Filomena, Andrea D'Amato, Massimo Mancone, Silvia Papa, Roberto Badagliacca, Carmine Dario Vizza
The natural history of patients with heart failure (HF), mainly affecting the left ventricle in the initial stages, is marked by the progressive involvement of the right ventricle (RV), which in the advanced stages of the disease becomes dilated and dysfunctional. The geometrical, functional, and pathological interdependence binding the two ventricles underlies this progressive path. Researchers' and clinicians' efforts must be aimed at interrupting the inevitable trajectory of HF, by preventing the development of pulmonary hypertension (PH) and RV dysfunction or the transition from isolated post-capillary PH to combined pre- and post-capillary PH. The search for drugs targeting the pulmonary circulation is another goal of PH researchers. Studies conducted so far on drugs currently approved for patients with pulmonary arterial hypertension have yielded contradictory results; an in-depth analysis of these trials could help researchers profile the patients with HF who might benefit from these treatments.
{"title":"The right ventricle: the co-star in the complex history of heart failure.","authors":"Giovanna Manzi, Tommaso Recchioni, Alexandra Mihai, Paolo Severino, Lucia Ilaria Birtolo, Domenico Filomena, Andrea D'Amato, Massimo Mancone, Silvia Papa, Roberto Badagliacca, Carmine Dario Vizza","doi":"10.1093/eurheartjsupp/suae092","DOIUrl":"10.1093/eurheartjsupp/suae092","url":null,"abstract":"<p><p>The natural history of patients with heart failure (HF), mainly affecting the left ventricle in the initial stages, is marked by the progressive involvement of the right ventricle (RV), which in the advanced stages of the disease becomes dilated and dysfunctional. The geometrical, functional, and pathological interdependence binding the two ventricles underlies this progressive path. Researchers' and clinicians' efforts must be aimed at interrupting the inevitable trajectory of HF, by preventing the development of pulmonary hypertension (PH) and RV dysfunction or the transition from isolated post-capillary PH to combined pre- and post-capillary PH. The search for drugs targeting the pulmonary circulation is another goal of PH researchers. Studies conducted so far on drugs currently approved for patients with pulmonary arterial hypertension have yielded contradictory results; an in-depth analysis of these trials could help researchers profile the patients with HF who might benefit from these treatments.</p>","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":"27 Suppl 1","pages":"i109-i114"},"PeriodicalIF":1.7,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11836718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}