Pub Date : 2025-02-21DOI: 10.1016/j.repc.2024.11.012
Isabel Cardoso, Sofia Nunes, Pedro Brás, José Miguel Viegas, Miguel Marques Antunes, André Ferreira, Inês Almeida, Inês Custódio, Conceição Trigo, Sérgio Laranjo, Rafael Graça, PRui Cruz Ferreira, Mário Oliveira, Sílvia Aguiar Rosa, Diana Antunes
Genetics has assumed a pivotal role in clarifying the pathophysiology of cardiomyopathies, facilitating molecular diagnosis, and enabling effective family screening. The advent of next-generation sequencing has revolutionized genetic testing by enabling cost-effective, high-throughput analysis. It is imperative for cardiovascular physicians to mainstream genetic testing into their clinical decision-making. Although a definitive genotype-phenotype correlation may not always be evident, several genotypes have emerged as valuable risk predictors for disease severity and progression. European guidelines emphasize the importance of genetic tests for predicting clinical outcome in cardiomyopathies. While further research is essential to bridge existing gaps in the genetic evidence on cardiomyopathies, there is considerable potential for significant advancements.
{"title":"The contribution of genetics to the understanding and management of cardiomyopathies: Part 1.","authors":"Isabel Cardoso, Sofia Nunes, Pedro Brás, José Miguel Viegas, Miguel Marques Antunes, André Ferreira, Inês Almeida, Inês Custódio, Conceição Trigo, Sérgio Laranjo, Rafael Graça, PRui Cruz Ferreira, Mário Oliveira, Sílvia Aguiar Rosa, Diana Antunes","doi":"10.1016/j.repc.2024.11.012","DOIUrl":"https://doi.org/10.1016/j.repc.2024.11.012","url":null,"abstract":"<p><p>Genetics has assumed a pivotal role in clarifying the pathophysiology of cardiomyopathies, facilitating molecular diagnosis, and enabling effective family screening. The advent of next-generation sequencing has revolutionized genetic testing by enabling cost-effective, high-throughput analysis. It is imperative for cardiovascular physicians to mainstream genetic testing into their clinical decision-making. Although a definitive genotype-phenotype correlation may not always be evident, several genotypes have emerged as valuable risk predictors for disease severity and progression. European guidelines emphasize the importance of genetic tests for predicting clinical outcome in cardiomyopathies. While further research is essential to bridge existing gaps in the genetic evidence on cardiomyopathies, there is considerable potential for significant advancements.</p>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143484402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-18DOI: 10.1016/j.repc.2024.11.011
José Silva-Cardoso, Emília Moreira, Rachel Tavares de Melo, Pedro Moraes-Sarmento, Nuno Cardim, Mário Oliveira, Cristina Gavina, Brenda Moura, Inês Araújo, Paulo Santos, Marisa Peres, Cândida Fonseca, João Pedro Ferreira, Irene Marques, Aurora Andrade, Rui Baptista, Dulce Brito, Rui Cernadas, Jonathan Dos Santos, Adelino Leite-Moreira, Lino Gonçalves, Jorge Ferreira, Carlos Aguiar, Manuela Fonseca, Ricardo Fontes-Carvalho, Fátima Franco, Carolina Lourenço, Elisabete Martins, Hélder Pereira, Mário Santos, Joana Pimenta
Heart failure (HF) with preserved ejection fraction (HFpEF) affects more than 50% of HF patients worldwide, and more than 70% of HF patients aged over 65. This is a complex syndrome with a clinically heterogeneous presentation and a multifactorial pathophysiology, both of which make its diagnosis and treatment challenging. A Portuguese HF expert panel convened to address HFpEF pathophysiology and therapy, as well as appropriate management within the Portuguese context. This initiative resulted in two position papers that examine the most recently published literature in the field. The present Part I includes a review of the HFpEF literature covering pathophysiology, clinical presentation, diagnosis and treatment, including pharmacological and non-pharmacological strategies. Part II, the second paper, addresses the development of a holistic and integrated HFPEF clinical care system within the Portuguese context that is capable of reducing morbidity and mortality and improving patients' functional capacity and quality of life.
{"title":"A Portuguese expert panel position paper on the management of heart failure with preserved ejection fraction - Part I: Pathophysiology, diagnosis and treatment.","authors":"José Silva-Cardoso, Emília Moreira, Rachel Tavares de Melo, Pedro Moraes-Sarmento, Nuno Cardim, Mário Oliveira, Cristina Gavina, Brenda Moura, Inês Araújo, Paulo Santos, Marisa Peres, Cândida Fonseca, João Pedro Ferreira, Irene Marques, Aurora Andrade, Rui Baptista, Dulce Brito, Rui Cernadas, Jonathan Dos Santos, Adelino Leite-Moreira, Lino Gonçalves, Jorge Ferreira, Carlos Aguiar, Manuela Fonseca, Ricardo Fontes-Carvalho, Fátima Franco, Carolina Lourenço, Elisabete Martins, Hélder Pereira, Mário Santos, Joana Pimenta","doi":"10.1016/j.repc.2024.11.011","DOIUrl":"https://doi.org/10.1016/j.repc.2024.11.011","url":null,"abstract":"<p><p>Heart failure (HF) with preserved ejection fraction (HFpEF) affects more than 50% of HF patients worldwide, and more than 70% of HF patients aged over 65. This is a complex syndrome with a clinically heterogeneous presentation and a multifactorial pathophysiology, both of which make its diagnosis and treatment challenging. A Portuguese HF expert panel convened to address HFpEF pathophysiology and therapy, as well as appropriate management within the Portuguese context. This initiative resulted in two position papers that examine the most recently published literature in the field. The present Part I includes a review of the HFpEF literature covering pathophysiology, clinical presentation, diagnosis and treatment, including pharmacological and non-pharmacological strategies. Part II, the second paper, addresses the development of a holistic and integrated HFPEF clinical care system within the Portuguese context that is capable of reducing morbidity and mortality and improving patients' functional capacity and quality of life.</p>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-18DOI: 10.1016/j.repc.2024.11.013
Inês Ferreira Neves, Francisco Barbas de Albuquerque, Ruben Ramos, Rui Rodrigues, Ana Galrinho
{"title":"An unusual finding in severe mitral regurgitation complicated with hypoxemia: The importance of three-dimensional echocardiography.","authors":"Inês Ferreira Neves, Francisco Barbas de Albuquerque, Ruben Ramos, Rui Rodrigues, Ana Galrinho","doi":"10.1016/j.repc.2024.11.013","DOIUrl":"https://doi.org/10.1016/j.repc.2024.11.013","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-15DOI: 10.1016/j.repc.2025.02.003
Nuno Cortez-Dias
{"title":"Revolutionizing atrial fibrillation treatment: Early results and future prospects for pulsed field ablation.","authors":"Nuno Cortez-Dias","doi":"10.1016/j.repc.2025.02.003","DOIUrl":"https://doi.org/10.1016/j.repc.2025.02.003","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-10DOI: 10.1016/j.repc.2025.02.002
Graça Nogueira
{"title":"The Role of Commissural Malalignment on Echocardiography as a Predictor of Coronary Anomalies in Transposition of the Great Arteries.","authors":"Graça Nogueira","doi":"10.1016/j.repc.2025.02.002","DOIUrl":"https://doi.org/10.1016/j.repc.2025.02.002","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-08DOI: 10.1016/j.repc.2025.02.001
Rui Cerejo
{"title":"When Acute Respiratory Distress Syndrome further complicates the prognosis of Type A Aortic Dissection.","authors":"Rui Cerejo","doi":"10.1016/j.repc.2025.02.001","DOIUrl":"https://doi.org/10.1016/j.repc.2025.02.001","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.repc.2024.06.006
Francisco Barbas de Albuquerque , Inês Neves , Rita Teixeira , Tânia Mano , Tiago Rito , Pedro O. Costa , Rui Ferreira , Lídia de Sousa , Fátima Pinto
Introduction and objective
Congenital heart disease (CHD) is a complex condition requiring a multidisciplinary approach. It is crucial that adults with CHD (CHD) have adequate knowledge of their condition, enabling them to engage in their healthcare decisions and self-management. We aimed to investigate knowledge and perception among adults of their CHD.
Methods
Single-center, observational, cross-sectional study. A 25-item adapted survey of Leuven Questionnaire for CHD was used to assess four main domains: (1) disease and treatment, (2) endocarditis and preventive measures, (3) physical activity and (4) reproductive issues.
Results
One hundred forty-eight patients participated in the study. Patients had a significant lack of knowledge localizing their heart defect, recognizing drug side effects, acting in case of experiencing drug side effects, recognizing at least two symptoms of clinical deterioration, to adequately define endocarditis and most typical signs and risk factors, to acknowledge the hereditary nature of their CHD and risk of clinical deterioration during pregnancies. Patients with an education level ≥12th grade have higher knowledge in various items and, overall, the complexity of CHD was not associated with a better performance.
Conclusion
This study highlights the existing knowledge gaps among adults with CHD. It underscores the need for tailored information and structured educational programs to improve management. By addressing these challenges, healthcare providers can enhance patient outcomes, improve quality of life, and promote long-term well-being for individuals with CHD.
{"title":"Knowledge and perception among adults of their congenital heart disease: A single center cross-sectional study","authors":"Francisco Barbas de Albuquerque , Inês Neves , Rita Teixeira , Tânia Mano , Tiago Rito , Pedro O. Costa , Rui Ferreira , Lídia de Sousa , Fátima Pinto","doi":"10.1016/j.repc.2024.06.006","DOIUrl":"10.1016/j.repc.2024.06.006","url":null,"abstract":"<div><h3>Introduction and objective</h3><div>Congenital heart disease (CHD) is a complex condition requiring a multidisciplinary approach. It is crucial that adults with CHD (CHD) have adequate knowledge of their condition, enabling them to engage in their healthcare decisions and self-management. We aimed to investigate knowledge and perception among adults of their CHD.</div></div><div><h3>Methods</h3><div>Single-center, observational, cross-sectional study. A 25-item adapted survey of Leuven Questionnaire for CHD was used to assess four main domains: (1) disease and treatment, (2) endocarditis and preventive measures, (3) physical activity and (4) reproductive issues.</div></div><div><h3>Results</h3><div>One hundred forty-eight patients participated in the study. Patients had a significant lack of knowledge localizing their heart defect, recognizing drug side effects, acting in case of experiencing drug side effects, recognizing at least two symptoms of clinical deterioration, to adequately define endocarditis and most typical signs and risk factors, to acknowledge the hereditary nature of their CHD and risk of clinical deterioration during pregnancies. Patients with an education level ≥12th grade have higher knowledge in various items and, overall, the complexity of CHD was not associated with a better performance.</div></div><div><h3>Conclusion</h3><div>This study highlights the existing knowledge gaps among adults with CHD. It underscores the need for tailored information and structured educational programs to improve management. By addressing these challenges, healthcare providers can enhance patient outcomes, improve quality of life, and promote long-term well-being for individuals with CHD.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 2","pages":"Pages 95-103"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299203","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 : 2025-02-01DOI: 10.1016/j.repc.2024.04.006
Daniel Inácio Cazeiro , Miguel Azaredo Raposo , Tatiana Guimarães , Nuno Lousada , David Jenkins , João R. Inácio , Susana Moreira , Ana Mineiro , Céline Freitas , Susana Martins , Ricardo Ferreira , Rita Luís , Nuno Cardim , Fausto J. Pinto , Rui Plácido
Chronic thromboembolic pulmonary hypertension (CTEPH) is part of group 4 of the pulmonary hypertension (PH) classification and generally affects more than a third of patients referred to PH centers. It is a three-compartment disease involving proximal (lobar-to-segmental) and distal (subsegmental) pulmonary arteries that are obstructed by persistent fibrothrombotic material, and precapillary pulmonary arteries that can be affected as in pulmonary arterial hypertension. It is a rare complication of pulmonary embolism (PE), with an incidence of around 3% in PE survivors. The observed incidence of CTEPH in the general population is around six cases per million but could be three times higher than this, as estimated from PE incidence. However, a previous venous thromboembolic episode is not always documented. With advances in multimodality imaging and therapeutic management, survival for CTEPH has improved for both operable and inoperable patients. Advanced imaging with pulmonary angiography helps distinguish proximal from distal obstructive disease. However, right heart catheterization is of utmost importance to establish the diagnosis and hemodynamic severity of PH. The therapeutic strategy relies on a stepwise approach, starting with an operability assessment. Pulmonary endarterectomy (PEA), also known as pulmonary thromboendarterectomy, is the first-line treatment for operable patients. Growing experience and advances in surgical technique have enabled expansion of the distal limits of PEA and significant improvements in perioperative and mid- to long-term mortality. In patients who are inoperable or who have persistent/recurrent PH after PEA, medical therapy and/or balloon pulmonary angioplasty (BPA) are effective treatment options with favorable outcomes that are increasingly used. All treatment decisions should be made with a multidisciplinary team that includes a PEA surgeon, a BPA expert, and a chest radiologist.
慢性血栓栓塞性肺动脉高压（CTEPH）属于肺动脉高压（PH）分类的第 4 组，通常影响三分之一以上转诊至 PH 中心的患者。它是一种三腔疾病，涉及被持久性纤维血栓物质阻塞的近端（叶至节段）和远端（节段下）肺动脉，以及可能像肺动脉高压一样受影响的毛细血管前肺动脉。它是肺栓塞（PE）的一种罕见并发症，在 PE 存活者中的发病率约为 3%。在普通人群中，CTEPH 的观察发病率约为每百万人中有 6 例，但根据 PE 发病率估算，可能比这一数字高出三倍。然而，先前的静脉血栓栓塞发作并不总能被记录下来。随着多模式成像和治疗管理的进步，可手术和不可手术患者的 CTEPH 存活率都有所提高。先进的肺血管造影术有助于区分近端和远端阻塞性疾病。然而，右心导管检查对于确定 PH 的诊断和血液动力学严重程度至关重要。治疗策略采用循序渐进的方法，首先进行可手术性评估。肺动脉内膜切除术（PEA），又称肺血栓内膜切除术，是可手术患者的一线治疗方法。随着经验的积累和手术技术的进步，肺动脉内膜剥脱术的远端范围不断扩大，围手术期和中长期死亡率也有了显著改善。对于无法手术或 PEA 术后 PH 持续/复发的患者，药物治疗和/或球囊肺血管成形术（BPA）是有效的治疗方案，效果良好，越来越多地得到应用。所有治疗决定都应由一个多学科团队做出，该团队应包括一名 PEA 外科医生、一名 BPA 专家和一名胸部放射科医生。
{"title":"Chronic thromboembolic pulmonary hypertension: A comprehensive review of pathogenesis, diagnosis, and treatment strategies","authors":"Daniel Inácio Cazeiro , Miguel Azaredo Raposo , Tatiana Guimarães , Nuno Lousada , David Jenkins , João R. Inácio , Susana Moreira , Ana Mineiro , Céline Freitas , Susana Martins , Ricardo Ferreira , Rita Luís , Nuno Cardim , Fausto J. Pinto , Rui Plácido","doi":"10.1016/j.repc.2024.04.006","DOIUrl":"10.1016/j.repc.2024.04.006","url":null,"abstract":"<div><div>Chronic thromboembolic pulmonary hypertension (CTEPH) is part of group 4 of the pulmonary hypertension (PH) classification and generally affects more than a third of patients referred to PH centers. It is a three-compartment disease involving proximal (lobar-to-segmental) and distal (subsegmental) pulmonary arteries that are obstructed by persistent fibrothrombotic material, and precapillary pulmonary arteries that can be affected as in pulmonary arterial hypertension. It is a rare complication of pulmonary embolism (PE), with an incidence of around 3% in PE survivors. The observed incidence of CTEPH in the general population is around six cases per million but could be three times higher than this, as estimated from PE incidence. However, a previous venous thromboembolic episode is not always documented. With advances in multimodality imaging and therapeutic management, survival for CTEPH has improved for both operable and inoperable patients. Advanced imaging with pulmonary angiography helps distinguish proximal from distal obstructive disease. However, right heart catheterization is of utmost importance to establish the diagnosis and hemodynamic severity of PH. The therapeutic strategy relies on a stepwise approach, starting with an operability assessment. Pulmonary endarterectomy (PEA), also known as pulmonary thromboendarterectomy, is the first-line treatment for operable patients. Growing experience and advances in surgical technique have enabled expansion of the distal limits of PEA and significant improvements in perioperative and mid- to long-term mortality. In patients who are inoperable or who have persistent/recurrent PH after PEA, medical therapy and/or balloon pulmonary angioplasty (BPA) are effective treatment options with favorable outcomes that are increasingly used. All treatment decisions should be made with a multidisciplinary team that includes a PEA surgeon, a BPA expert, and a chest radiologist.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 2","pages":"Pages 121-137"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471850","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 : 2025-02-01DOI: 10.1016/j.repc.2024.12.002
Dulce Brito , João Agostinho , Carlos Aguiar , Sílvia Aguiar Rosa , Nuno Cardim , Cândida Fonseca , Nuno Marques , Pedro Moraes Sarmento , Patrícia Rodrigues , Jonathan Santos , Maria João Vidigal Ferreira , Olga Azevedo
Early diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) is crucial for better disease management and outcome. To ensure timely diagnosis, a multidisciplinary panel of Portuguese experts, including cardiologists, internal medicine specialists, and general practitioners, have developed a national consensus to aid physicians in enhancing the referral of patients with suspicion of ATTR-CM in Portugal.
A structured approach was used to develop the consensus: (1) an online survey aimed at identifying clinical red flags, patient journeys, and diagnostic tools related to ATTR-CM; (2) a face-to-face roundtable meeting where the survey findings were discussed and a consensus was reached on referral and diagnostic algorithms for ATTR-CM in Portugal; and (3) critical review of the proposed algorithms.
The referral and diagnostic algorithms for ATTR-CM in Portugal were developed considering current recommendations, but also the existence of a nationwide network of specialized cardiomyopathy clinics and national reference centers for familial amyloid polyneuropathy due to the endemic p.V50M variant.
This collaborative effort aims to enhance awareness, facilitate timely referrals and improve early diagnosis, ultimately ensuring better management of ATTR-CM patients in Portugal.
{"title":"Suspicion and referral of patients with transthyretin amyloid cardiomyopathy: Recommendations by a Portuguese multidisciplinary expert panel","authors":"Dulce Brito , João Agostinho , Carlos Aguiar , Sílvia Aguiar Rosa , Nuno Cardim , Cândida Fonseca , Nuno Marques , Pedro Moraes Sarmento , Patrícia Rodrigues , Jonathan Santos , Maria João Vidigal Ferreira , Olga Azevedo","doi":"10.1016/j.repc.2024.12.002","DOIUrl":"10.1016/j.repc.2024.12.002","url":null,"abstract":"<div><div>Early diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) is crucial for better disease management and outcome. To ensure timely diagnosis, a multidisciplinary panel of Portuguese experts, including cardiologists, internal medicine specialists, and general practitioners, have developed a national consensus to aid physicians in enhancing the referral of patients with suspicion of ATTR-CM in Portugal.</div><div>A structured approach was used to develop the consensus: (1) an online survey aimed at identifying clinical red flags, patient journeys, and diagnostic tools related to ATTR-CM; (2) a face-to-face roundtable meeting where the survey findings were discussed and a consensus was reached on referral and diagnostic algorithms for ATTR-CM in Portugal; and (3) critical review of the proposed algorithms.</div><div>The referral and diagnostic algorithms for ATTR-CM in Portugal were developed considering current recommendations, but also the existence of a nationwide network of specialized cardiomyopathy clinics and national reference centers for familial amyloid polyneuropathy due to the endemic p.V50M variant.</div><div>This collaborative effort aims to enhance awareness, facilitate timely referrals and improve early diagnosis, ultimately ensuring better management of ATTR-CM patients in Portugal.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 ","pages":"Pages 59-68"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143403334","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 : 2025-02-01DOI: 10.1016/j.repc.2024.10.002
João Freitas
{"title":"Sudden cardiac death in athletes – Addressing the silent threat","authors":"João Freitas","doi":"10.1016/j.repc.2024.10.002","DOIUrl":"10.1016/j.repc.2024.10.002","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 2","pages":"Pages 85-86"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401703","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号