Revista Portuguesa De Cardiologia最新文献

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Can my echo work as a crystal ball? – Echocardiographic parameters predicting residual pulmonary hypertension after pulmonary endarterectomy 我的回声能像水晶球一样工作吗?超声心动图参数预测肺动脉内膜切除术后残余肺动脉高压。
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-11 DOI: 10.1016/j.repc.2025.04.001
João Mirinha Luz , Filipa Ferreira , Sofia Alegria , Ana Cláudia Vieira , Bárbara Ferreira , Débora Repolho , Ana Rita Francisco , Bruno Neves , Isabel João , Hélder Pereira
{"title":"Can my echo work as a crystal ball? – Echocardiographic parameters predicting residual pulmonary hypertension after pulmonary endarterectomy","authors":"João Mirinha Luz ,&nbsp;Filipa Ferreira ,&nbsp;Sofia Alegria ,&nbsp;Ana Cláudia Vieira ,&nbsp;Bárbara Ferreira ,&nbsp;Débora Repolho ,&nbsp;Ana Rita Francisco ,&nbsp;Bruno Neves ,&nbsp;Isabel João ,&nbsp;Hélder Pereira","doi":"10.1016/j.repc.2025.04.001","DOIUrl":"10.1016/j.repc.2025.04.001","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Pulmonary endarterectomy should be considered in all patients with chronic thromboembolic pulmonary hypertension. Twenty five percent of patients maintain pulmonary hypertension after pulmonary endarterectomy, with therapeutic and prognostic implications. We aimed to evaluate echocardiographic parameters at diagnosis as predictors for development of residual pulmonary hypertension.</div></div><div><h3>Methods</h3><div>Retrospective, observational, unicentric study of patients with confirmed chronic thromboembolic pulmonary hypertension who underwent pulmonary endarterectomy between January 2010 and October 2024. All patients underwent transthoracic echocardiogram at diagnosis. After pulmonary endarterectomy, patients had a right heart catheterization to exclude residual pulmonary hypertension (mean pulmonary artery pressure ≥30 mmHg). Right heart echocardiographic parameters were assessed and compared.</div></div><div><h3>Results</h3><div>Thirty-nine patients had chronic thromboembolic pulmonary hypertension and underwent pulmonary endarterectomy during the follow-up period. Mean age at diagnosis was 57.3 years-old. Eighteen patients had documented residual pulmonary hypertension. Tricuspid annular plane systolic excursion (p=0.010), end-diastolic right ventricular area (p&lt;0.001), end-systolic right ventricular area (p&lt;0.001), fractional area change (p=0.006), tricuspid annular plane systolic excursion/pulmonary artery systolic pressure ratio (p=0.002), diastolic (p=0.002) and systolic eccentric ratio (p=0.036) were significantly different between the two groups. End-systolic right ventricular area and end-diastolic right ventricular area were independently associated with residual pulmonary hypertension (p=0.023 and p=0.013), and those with end-diastolic right ventricular area above 27.13 cm<sup>2</sup> (area under the curve [AUC] 0.88, sensitivity 89%, specificity 85%, odds ratio 44) and end-systolic right ventricular area &gt;19.54 cm<sup>2</sup> (AUC 0.875, sensitivity 88%, specificity 85%, odds ratio 38.5) had higher probability of developing residual pulmonary hypertension after pulmonary endarterectomy.</div></div><div><h3>Conclusion</h3><div>This study shows that certain echocardiographic parameters could be predictors of development of residual pulmonary hypertension after pulmonary endarterectomy; however, validation in larger cohorts is mandatory.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 8","pages":"Pages 469-477"},"PeriodicalIF":1.6,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005013","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}
引用次数: 0
Association of LDL-cholesterol with prognosis in patients admitted for acutely decompensated heart failure 急性失代偿性心力衰竭患者ldl -胆固醇与预后的关系
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 10.1016/j.repc.2024.09.004
Joana Brito , João Rin , Catarina Duarte , Sara Pereira , Pedro Morais , Nelson Cunha , Diogo Ferreira , Rafael Santos , Joana Rigueira , Fausto J. Pinto , Dulce Brito
{"title":"Association of LDL-cholesterol with prognosis in patients admitted for acutely decompensated heart failure","authors":"Joana Brito ,&nbsp;João Rin ,&nbsp;Catarina Duarte ,&nbsp;Sara Pereira ,&nbsp;Pedro Morais ,&nbsp;Nelson Cunha ,&nbsp;Diogo Ferreira ,&nbsp;Rafael Santos ,&nbsp;Joana Rigueira ,&nbsp;Fausto J. Pinto ,&nbsp;Dulce Brito","doi":"10.1016/j.repc.2024.09.004","DOIUrl":"10.1016/j.repc.2024.09.004","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>The association of low-density lipoprotein cholesterol (LDL-C) levels and prognosis in patients with heart failure (HF) remains uncertain. This study aimed to evaluate the prognostic significance of LDL-C in patients admitted for acutely decompensated HF and establish a safety cut-off value in this population.</div></div><div><h3>Methods</h3><div>This retrospective, observational study included 167 consecutive patients admitted for acute HF. LDL-C levels were measured on hospital admission, and patients were categorized according to their estimated cardiovascular (CV) risk. The primary endpoint was all-cause mortality at one-year, while secondary endpoints included HF hospitalizations, major thrombotic events, and net clinical benefit.</div></div><div><h3>Results</h3><div>During the follow-up period, 14.4% of patients died. Higher LDL-C levels were independently associated with improved survival, with a 4-fold increase in survival probability for each 1 mg/dL increase in serum LDL-C. The minimum LDL-C value not associated with increased mortality risk was 88 mg/dL. Patients with LDL-C below this cut-off had a significantly higher risk of mortality and a tendency for higher HF hospitalization risk. The net clinical benefit endpoint was also influenced by LDL-C levels, with LDL-C below 88 mg/dL associated with an increased risk of events.</div></div><div><h3>Conclusion</h3><div>In patients admitted for acutely decompensated HF, higher LDL-C levels were associated with reduced risk of mortality. An LDL-C value below 88 mg/dL was associated with increased mortality, suggesting the need for a more liberal LDL-C target in this specific patient population. These findings highlight the importance of considering LDL-C levels in the management and risk assessment of patients with HF.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 191-200"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014437","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}
引用次数: 0
Temporal trends and outcomes of rotational atherectomy: A single-centre experience 旋转动脉粥样硬化切除术的时间趋势和结果:单中心经验。
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 10.1016/j.repc.2024.09.005
Mafalda Griné , Manuel Oliveira-Santos , João Borges-Rosa , Joana Delgado Silva , Vítor Matos , Marco Costa , Lino Gonçalves
{"title":"Temporal trends and outcomes of rotational atherectomy: A single-centre experience","authors":"Mafalda Griné ,&nbsp;Manuel Oliveira-Santos ,&nbsp;João Borges-Rosa ,&nbsp;Joana Delgado Silva ,&nbsp;Vítor Matos ,&nbsp;Marco Costa ,&nbsp;Lino Gonçalves","doi":"10.1016/j.repc.2024.09.005","DOIUrl":"10.1016/j.repc.2024.09.005","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Rotational atherectomy (RA) is widely used for the management of calcified coronary stenoses. However, there is limited data on its use, trends, and outcomes. We sought to report our twelve-year experience with RA and explore the trends and outcomes of percutaneous coronary intervention (PCI) with this device.</div></div><div><h3>Methods</h3><div>Our institutional PCI database was queried to identify all cases of RA-PCI performed between January 2009 and December 2020. We analysed peri-procedural outcomes and major adverse cardiovascular events (MACE) during follow-up: cardiovascular death, myocardial infarction, and target lesion revascularization.</div></div><div><h3>Results</h3><div>Four hundred ten procedures (2.8% of total PCI volume) in 388 patients were included. Mean age was 72.3<!--> <!-->±<!--> <!-->9.3 years, 74.0% were male, 53.6% had diabetes, and 33.8% presented with acute coronary syndrome. There was a significant increase in median SYNTAX score (p<sub>trend</sub>=0.003) and the proportion of type B2/C lesions (p<sub>trend</sub>=0.003). Transradial access was preferred (60.0% overall) with a growing trend over time (p<sub>trend</sub>=0.003). Maximum burr size was &lt;1.75 mm in 88.0% of cases (burr-to-artery ratio of 0.49<!--> <!-->±<!--> <!-->0.07). Angiographic success rate was consistently high (96.6% overall). Complications were recorded in 9.0% of procedures, with a temporal decline (p<sub>trend</sub>=0.029). Clinical follow-up was available for 357 patients (median time of 40 months). At one year, MACE rate was 12.1% with no significant temporal changes.</div></div><div><h3>Conclusions</h3><div>RA-PCI was a safe and effective procedure with a high rate of angiographic success and few complications, particularly in recent years, in line with significant technical improvements. The MACE incidence is acceptable considering the clinical risk and angiographic complexity.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 205-214"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014350","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}
引用次数: 0
Rotational atherectomy. Is it still the main tool in hard rock combat? 旋转动脉粥样硬化切除术。它仍然是硬岩战斗的主要工具吗?
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 10.1016/j.repc.2025.02.004
Jorge Guardado
{"title":"Rotational atherectomy. Is it still the main tool in hard rock combat?","authors":"Jorge Guardado","doi":"10.1016/j.repc.2025.02.004","DOIUrl":"10.1016/j.repc.2025.02.004","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 215-217"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537975","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}
引用次数: 0
A Portuguese expert panel position paper on the management of heart failure with preserved ejection fraction – Part I: Pathophysiology, diagnosis and treatment 葡萄牙专家小组关于保留射血分数的心力衰竭管理的立场文件-第一部分:病理生理学,诊断和治疗。
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 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 , Joana Pimenta
{"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 ,&nbsp;Emília Moreira ,&nbsp;Rachel Tavares de Melo ,&nbsp;Pedro Moraes-Sarmento ,&nbsp;Nuno Cardim ,&nbsp;Mário Oliveira ,&nbsp;Cristina Gavina ,&nbsp;Brenda Moura ,&nbsp;Inês Araújo ,&nbsp;Paulo Santos ,&nbsp;Marisa Peres ,&nbsp;Cândida Fonseca ,&nbsp;João Pedro Ferreira ,&nbsp;Irene Marques ,&nbsp;Aurora Andrade ,&nbsp;Rui Baptista ,&nbsp;Dulce Brito ,&nbsp;Rui Cernadas ,&nbsp;Jonathan dos Santos ,&nbsp;Adelino Leite-Moreira ,&nbsp;Joana Pimenta","doi":"10.1016/j.repc.2024.11.011","DOIUrl":"10.1016/j.repc.2024.11.011","url":null,"abstract":"<div><div>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.</div><div>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.</div><div>The present Part I includes a review of the HFpEF literature covering pathophysiology, clinical presentation, diagnosis and treatment, including pharmacological and non-pharmacological strategies.</div><div>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.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 233-243"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An unusual finding in severe mitral regurgitation complicated with hypoxemia: The importance of three-dimensional echocardiography 严重二尖瓣返流合并低氧血症的不寻常发现:三维超声心动图的重要性。
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 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 ,&nbsp;Francisco Barbas de Albuquerque ,&nbsp;Ruben Ramos ,&nbsp;Rui Rodrigues ,&nbsp;Ana Galrinho","doi":"10.1016/j.repc.2024.11.013","DOIUrl":"10.1016/j.repc.2024.11.013","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 255-256"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aerobic fitness questionnaires – Still not enough to estimate VO2 peak in cardiac patients! 有氧健身问卷-仍然不足以估计心脏病患者的VO2峰值!
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 10.1016/j.repc.2025.03.001
Ana Abreu
{"title":"Aerobic fitness questionnaires – Still not enough to estimate VO2 peak in cardiac patients!","authors":"Ana Abreu","doi":"10.1016/j.repc.2025.03.001","DOIUrl":"10.1016/j.repc.2025.03.001","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 229-231"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587684","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}
引用次数: 0
Revisiting the “cholesterol paradox” in heart failure. Is LDL-cholesterol a target of treatment or a marker of risk? 重访心力衰竭的“胆固醇悖论”。低密度脂蛋白胆固醇是治疗的目标还是危险的标志?
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 10.1016/j.repc.2025.03.002
Rui Gomes, Carlos Aguiar
{"title":"Revisiting the “cholesterol paradox” in heart failure. Is LDL-cholesterol a target of treatment or a marker of risk?","authors":"Rui Gomes,&nbsp;Carlos Aguiar","doi":"10.1016/j.repc.2025.03.002","DOIUrl":"10.1016/j.repc.2025.03.002","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 201-203"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587690","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}
引用次数: 0
Validation of an Aerobic Fitness Questionnaire to estimate VO2 peak in a cohort of adult cardiac patients – Is it enough? 用有氧适能问卷估计成年心脏病患者VO2峰值的有效性——这是否足够?
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 10.1016/j.repc.2024.10.005
Maria Rita Lima , Rita Amador , João Presume , Gonçalo Cunha , Luís Moreno , Anaí Durazzo , Claudio Gil Araújo , Miguel Mendes
{"title":"Validation of an Aerobic Fitness Questionnaire to estimate VO2 peak in a cohort of adult cardiac patients – Is it enough?","authors":"Maria Rita Lima ,&nbsp;Rita Amador ,&nbsp;João Presume ,&nbsp;Gonçalo Cunha ,&nbsp;Luís Moreno ,&nbsp;Anaí Durazzo ,&nbsp;Claudio Gil Araújo ,&nbsp;Miguel Mendes","doi":"10.1016/j.repc.2024.10.005","DOIUrl":"10.1016/j.repc.2024.10.005","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Cardiopulmonary exercise testing (CPET) is the gold standard for quantifying aerobic functional capacity, yet it is costly and not widely available. The CLINIMEX Aerobic Fitness Questionnaire (C-AFQ) may be a practical alternative as it estimates oxygen consumption at peak exercise (VO<sub>2</sub> peak) based on patients’ responses to a list of activities with known energy requirements. However, its applicability in cardiac patients is unclear and has not yet been studied. This study aims to assess the C-AFQ performance in predicting VO<sub>2</sub> peak, measured via CPET, in adult patients with confirmed heart disease.</div></div><div><h3>Methods</h3><div>This was a single-center prospective study enrolling consecutive patients who underwent CPET from April/2022 to January/2023. The main indication for CPET was measuring aerobic functional capacity for cardiovascular risk stratification.</div></div><div><h3>Results</h3><div>A total of 124 patients (mean age 62<!--> <!-->±<!--> <!-->12 years, 75% male, 59% in the early phase post-myocardial infarction, 61% had heart failure, mean left ventricular ejection fraction 47<!--> <!-->±<!--> <!-->12%) with maximal CPET were included. Overall, a strong correlation was found between CPET and C-AFQ VO<sub>2</sub> peak values (r=0.723, p&lt;0.001). However, when performing a Bland–Altman plot analysis, we found a heightened confidence interval for the agreement between CPET and C-AFQ VO<sub>2</sub> peak: 0.62<!--> <!-->±<!--> <!-->6.93 (95% CI −12.96–14.21) mL kg<sup>−1</sup> min<sup>−1</sup>. CPET VO<sub>2</sub> peak and the VO<sub>2</sub> peak estimated by the exercise test protocol were related (r=0.777, p&lt;0.001).</div></div><div><h3>Conclusion</h3><div>Although cardiorespiratory fitness estimation from the C-AFQ performs well in a large population, the utility of this questionnaire to estimate cardiorespiratory fitness in this study's population sample has limited value. However, it may be useful to aid physicians in choosing the adequate exercise test protocol that best fits an individual patient.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 219-228"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014518","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}
引用次数: 0
The contribution of genetics to the understanding and management of cardiomyopathies: Part 1 遗传学对心肌病的理解和治疗的贡献:第1部分。
IF 1.6 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2025-04-01 DOI: 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 , Rui Cruz Ferreira , Mário Oliveira , Sílvia Aguiar Rosa , Diana Antunes
{"title":"The contribution of genetics to the understanding and management of cardiomyopathies: Part 1","authors":"Isabel Cardoso ,&nbsp;Sofia Nunes ,&nbsp;Pedro Brás ,&nbsp;José Miguel Viegas ,&nbsp;Miguel Marques Antunes ,&nbsp;André Ferreira ,&nbsp;Inês Almeida ,&nbsp;Inês Custódio ,&nbsp;Conceição Trigo ,&nbsp;Sérgio Laranjo ,&nbsp;Rafael Graça ,&nbsp;Rui Cruz Ferreira ,&nbsp;Mário Oliveira ,&nbsp;Sílvia Aguiar Rosa ,&nbsp;Diana Antunes","doi":"10.1016/j.repc.2024.11.012","DOIUrl":"10.1016/j.repc.2024.11.012","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"44 4","pages":"Pages 245-254"},"PeriodicalIF":1.6,"publicationDate":"2025-04-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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