Revista Portuguesa De Cardiologia最新文献

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From low-density lipoprotein cholesterol lowering to mortality risk reduction: What can real-world evidence tell us and teach us? 从降低低密度脂蛋白胆固醇到降低死亡风险:现实世界的证据能告诉我们什么?
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-08 DOI: 10.1016/j.repc.2026.10.001
Pedro Alves da Silva, Fausto J Pinto
{"title":"From low-density lipoprotein cholesterol lowering to mortality risk reduction: What can real-world evidence tell us and teach us?","authors":"Pedro Alves da Silva, Fausto J Pinto","doi":"10.1016/j.repc.2026.10.001","DOIUrl":"https://doi.org/10.1016/j.repc.2026.10.001","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149138959","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
Low-density lipoprotein cholesterol reduction and its effect on all-cause death: A sub-analysis of the population-based cohort study LATINO. 低密度脂蛋白胆固醇降低及其对全因死亡的影响:拉丁裔人群队列研究的亚分析
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-07 DOI: 10.1016/j.repc.2026.04.009
Cristina Gavina, Daniel Seabra Carvalho, Marta Afonso Silva, Ana Sofia Freitas, Nuno Lourenço-Silva, Mariana Canelas-Pais, Cristina Jácome, Francisco Araújo
{"title":"Low-density lipoprotein cholesterol reduction and its effect on all-cause death: A sub-analysis of the population-based cohort study LATINO.","authors":"Cristina Gavina, Daniel Seabra Carvalho, Marta Afonso Silva, Ana Sofia Freitas, Nuno Lourenço-Silva, Mariana Canelas-Pais, Cristina Jácome, Francisco Araújo","doi":"10.1016/j.repc.2026.04.009","DOIUrl":"https://doi.org/10.1016/j.repc.2026.04.009","url":null,"abstract":"<p><strong>Introduction and objective: </strong>Reducing LDL-C is effective in reducing the risk of cardiovascular events, but its effect on all-cause mortality in real-world practice has yet to be estimated. We used a real-world evidence approach to analyze the impact of reducing LDL-C on all-cause mortality.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study using electronic health records from individuals aged 40-85 years in Matosinhos, Portugal, from 1/1/2000 to 31/12/2020. Patients with ≥2 LDL-C results one year apart were categorized into four LDL-C reduction cohorts ([0-10%[, [10-30%[, [30-50%[, ≥50%). The primary outcome was all-cause death at 1, 3 and 5 years in LDL-C reduction cohorts (0-10% as reference).</p><p><strong>Results: </strong>A total of 83,727 individuals were included: 19,177 in the [0-10%[LDL-C reduction cohort; 30,774 in the [10-30%[, 22,601 in the [30-50%[, and 11,175 in the ≥50%. At 1 year, those with ≥50% LDL-C reduction achieved a 42% decrease in the risk of death (HR 0.58, 95%CI 0.43-0.79) and those with [10-30%[or [30-50%[LDL-C reductions a 25% decrease (HR 0.75, 95%CI 0.59-0.97; HR 0.75, 95%CI 0.58-0.97, respectively). The protective effects of LDL-C reduction became more evident over time (HRs 0.52 to 0.65). Patients with LDL-C levels ≥150mg/dL benefited the most from more aggressive LDL-C reduction in the 3 follow-up periods (HRs 0.31 to 0.64).</p><p><strong>Conclusions: </strong>Higher reductions in LDL-C are associated with lower risk of all-cause mortality, especially in individuals with higher LDL-C levels. These findings underscore the relevance of LDL-C as a modifiable risk factor and the need for aggressive LDL-C reduction strategies.</p>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149129017","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
Feasibility and safety of oral propranolol for heart rate control in pre-TAVI cardiac CT in severe aortic stenosis: A prospective study. 口服心得安在严重主动脉瓣狭窄tavi前心脏CT中控制心率的可行性和安全性:一项前瞻性研究。
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-06 DOI: 10.1016/j.repc.2026.05.008
Gonçalo Costa, Ana Luísa Silva, Ana Rita Ramalho, Lino Gonçalves, Paulo Donato, Rogério Teixeira
{"title":"Feasibility and safety of oral propranolol for heart rate control in pre-TAVI cardiac CT in severe aortic stenosis: A prospective study.","authors":"Gonçalo Costa, Ana Luísa Silva, Ana Rita Ramalho, Lino Gonçalves, Paulo Donato, Rogério Teixeira","doi":"10.1016/j.repc.2026.05.008","DOIUrl":"https://doi.org/10.1016/j.repc.2026.05.008","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>Heart rate (HR) control may improve high-quality cardiac computed tomography angiography (CCTA) image quality in preprocedural planning for transcatheter aortic valve implantation (TAVI) in patients with severe aortic stenosis (AS). Beta-blockers, though useful for HR reduction, pose hemodynamic risks in AS patients. Propranolol, a non-selective beta blocker, may offer a safe and effective solution, but its role in this context remains uncertain. The aim of this paper is to assess the feasibility and safety of oral propranolol for HR control in severe AS patients undergoing pre-TAVI CCTA.</p><p><strong>Methods: </strong>This prospective, single-center study involved 113 severe AS patients scheduled for pre-TAVI CCTA. Oral propranolol was administered according to baseline HR and individualized clinical assessment: patients with HR 55-64 bpm were eligible for 5mg, while those with HR >65 bpm were eligible for 10mg. Propranolol was withheld in patients with lower baseline HR or clinical/hemodynamic features favoring avoidance of beta-blockade. The primary outcome was achieving HR <65 bpm at the time of CCTA. Secondary outcomes included HR reduction and adverse events.</p><p><strong>Results: </strong>Of 113 patients, 73 received propranolol and 40 were withheld propranolol. At admission, patients receiving propranolol had higher HR, whereas those not receiving propranolol more frequently had atrial fibrillation, coronary artery disease, and previous beta blocker use. Propranolol group showed significant HR reduction from 76.3 ± 11 bpm to a median HR of 66 bpm (p < 0.001). No HR reduction was noted in the non-propranolol group. At CCTA, 43.4% of propranolol patients met the target HR versus 43.3% of the non-propranolol group. No major adverse events were observed.</p><p><strong>Conclusion: </strong>In selected patients with severe AS undergoing pre-TAVI CCTA, oral propranolol was associated with significant within-group HR reduction and no major adverse events. However, target HR achievement was similar between groups, and this comparison is limited by non-randomized treatment allocation and baseline differences. These findings support the feasibility and preliminary safety of propranolol, while further studies are needed to establish its efficacy and impact on image quality.</p>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149117022","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
Medical education and disease awareness in transthyretin amyloid cardiomyopathy. 转甲状腺素淀粉样心肌病的医学教育和疾病意识。
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-06 DOI: 10.1016/j.repc.2026.05.009
Sara Maurício de Sousa, Daniela Mariana Zagalo, Isabel Freitas, Vanda Marques
{"title":"Medical education and disease awareness in transthyretin amyloid cardiomyopathy.","authors":"Sara Maurício de Sousa, Daniela Mariana Zagalo, Isabel Freitas, Vanda Marques","doi":"10.1016/j.repc.2026.05.009","DOIUrl":"https://doi.org/10.1016/j.repc.2026.05.009","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure, with diagnostic challenges often attributed to suboptimal physician awareness. This study aimed to evaluate awareness, knowledge, and clinical practices related to ATTR-CM across various medical specialties in Portugal.</p><p><strong>Methods: </strong>A cross-sectional online survey was conducted from November 2023 to February 2024 among Portuguese physicians in cardiology, internal medicine, and general practice. A 15-item questionnaire evaluated demographics, familiarity with ATTR-CM, disease exposure, recognition of diagnostic red flags, knowledge of diagnostic algorithms, referral patterns, and management challenges.</p><p><strong>Results: </strong>Of 1,268 physicians surveyed, 56.8% reported unfamiliarity with ATTR-CM, and 76.0% were unaware of the European Society of Cardiology (ESC) diagnostic guidelines. Awareness of diagnostic algorithms was significantly higher among cardiologists (97.8%) and internists (39.1%) compared to general practitioners (13.1%). Clinical suspicion of ATTR-CM was primarily triggered by imaging modalities, especially transthoracic echocardiography, supported by cardiac clinical signs and symptoms and patient history. Regarding diagnosis just 8% of respondents highlighted bone scintigraphy as essential. Referral patterns varied by specialty: cardiologists emphasized patient management and follow-up in a cardiomyopathy consultation, internal medicine bridged suspicion and specialist referral, and general practitioners frequently initiated referrals based on early suspicion and diagnostic confirmation. The principal challenges identified were initial clinical suspicion, selection of appropriate imaging exams, and knowledge of the referral pathways, with specialty-specific barriers influencing management strategies.</p><p><strong>Conclusions: </strong>Portuguese physicians exhibit specialty-specific differences in awareness and practices regarding ATTR-CM. Non-cardiologists focus on red flag recognition and structured referral, while cardiologists lead diagnosis and management. Role-adapted educational programs are warranted to optimize early recognition, appropriate referral, and effective multidisciplinary care.</p>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":" ","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149117016","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
Giant unruptured sinus of Valsalva aneurysm obstructing right ventricular outflow tract 巨大未破裂的血管瘤窦阻塞右心室流出道阻塞。
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.repc.2026.03.019
Leizhi Ku, Guan Cheng, Youping Chen, Xiaojing Ma
{"title":"Giant unruptured sinus of Valsalva aneurysm obstructing right ventricular outflow tract","authors":"Leizhi Ku,&nbsp;Guan Cheng,&nbsp;Youping Chen,&nbsp;Xiaojing Ma","doi":"10.1016/j.repc.2026.03.019","DOIUrl":"10.1016/j.repc.2026.03.019","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"45 10","pages":"Pages 609-610"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148814504","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
Successful extraction of a lumenless pacing lead three years after implantation 植入三年后成功取出无腔起搏导联。
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.repc.2026.02.009
Marta Catarina Bernardo, Bruno Valente, Mário Oliveira
{"title":"Successful extraction of a lumenless pacing lead three years after implantation","authors":"Marta Catarina Bernardo,&nbsp;Bruno Valente,&nbsp;Mário Oliveira","doi":"10.1016/j.repc.2026.02.009","DOIUrl":"10.1016/j.repc.2026.02.009","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"45 10","pages":"Pages 603-605"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148814512","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
Clinical pathway for patients with suspected heart failure in primary care: Recommendations guided by NT-proBNP testing 初级保健中疑似心力衰竭患者的临床路径:NT-proBNP检测指导的建议
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.repc.2026.05.006
Cristina Gavina, Elisabete Martins, Irene Marques, Joana Pimenta, Jonathan dos Santos, Maria José Rebocho
{"title":"Clinical pathway for patients with suspected heart failure in primary care: Recommendations guided by NT-proBNP testing","authors":"Cristina Gavina,&nbsp;Elisabete Martins,&nbsp;Irene Marques,&nbsp;Joana Pimenta,&nbsp;Jonathan dos Santos,&nbsp;Maria José Rebocho","doi":"10.1016/j.repc.2026.05.006","DOIUrl":"10.1016/j.repc.2026.05.006","url":null,"abstract":"<div><div>Heart failure (HF) is a highly prevalent condition that contributes significantly to morbidity, mortality, and healthcare burden worldwide. In Portugal, the PORTHOS study estimated that 16.5% of adults aged 50 years and older have HF, underscoring the urgent need for earlier detection and optimized care pathways. N-terminal pro-B-type natriuretic peptide (NT-proBNP) has emerged as a key biomarker for HF screening, diagnosis, and prognosis. The recent reimbursement of NT-proBNP testing in Portuguese primary care represents a critical opportunity to enhance HF detection and management. This position paper provides evidence-based recommendations for clinical pathways following an elevated NT-proBNP result. We advocate for NT-proBNP measurement in individuals over 50 years old with diabetes, diuretic use, or symptoms such as fatigue, dyspnea, or congestion. Age-specific cut-off values are recommended: ≥125 pg/mL for ages 50–79 and ≥250 pg/mL for those aged 80 and older. Confirmatory testing using echocardiography and electrocardiography is essential for diagnosis and management planning. Ensuring smooth transitions between primary and secondary care is vital to improving outcomes. We highlight challenges in continuity of care and emphasize the importance of multidisciplinary collaboration, along with the adoption of digital tools to strengthen communication. Integrating NT-proBNP testing into routine practice will enable earlier diagnosis, timely intervention, and more efficient healthcare delivery. A coordinated approach that combines clinical best practices, public health strategies, and active patient engagement is essential to reducing HF-related morbidity and mortality.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"45 10","pages":"Pages 591-599"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148814502","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
Massive pneumopericardium caused by perforated gastric ulcer 胃溃疡穿孔引起大量心包气肿。
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.repc.2026.03.021
Roberto Ramos Barbosa, Fernando Henrique Rabelo Abreu dos Santos, Guilherme Carvalho Moitinho, Marcio Rufino Barbosa Junior, Karolini Zambelli Marques Alves, Pamella Souza Macedo, Luiz Fernando Machado Barbosa
{"title":"Massive pneumopericardium caused by perforated gastric ulcer","authors":"Roberto Ramos Barbosa,&nbsp;Fernando Henrique Rabelo Abreu dos Santos,&nbsp;Guilherme Carvalho Moitinho,&nbsp;Marcio Rufino Barbosa Junior,&nbsp;Karolini Zambelli Marques Alves,&nbsp;Pamella Souza Macedo,&nbsp;Luiz Fernando Machado Barbosa","doi":"10.1016/j.repc.2026.03.021","DOIUrl":"10.1016/j.repc.2026.03.021","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"45 10","pages":"Pages 607-608"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148814492","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
Bridging the gap: Social inequalities of cardiovascular health in Portugal 缩小差距:葡萄牙心血管健康方面的社会不平等。
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-01 Epub Date: 2026-09-09 DOI: 10.1016/j.repc.2026.09.001
Emília Moreira
{"title":"Bridging the gap: Social inequalities of cardiovascular health in Portugal","authors":"Emília Moreira","doi":"10.1016/j.repc.2026.09.001","DOIUrl":"10.1016/j.repc.2026.09.001","url":null,"abstract":"","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"45 10","pages":"Pages 561-563"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148921485","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
Phenotype and outcome of patients with hypertrophic cardiomyopathy MYH7 variants: A longitudinal cohort study 肥厚性心肌病MYH7变异患者的表型和预后:一项纵向队列研究
IF 2 4区 医学
Revista Portuguesa De Cardiologia Pub Date : 2026-10-01 Epub Date: 2026-08-24 DOI: 10.1016/j.repc.2026.03.020
Catarina Gregório, Marta Vilela, Ana Beatriz Garcia, Oana Moldovan, Hugo Madeira, Fausto J. Pinto, Dulce Brito
{"title":"Phenotype and outcome of patients with hypertrophic cardiomyopathy MYH7 variants: A longitudinal cohort study","authors":"Catarina Gregório,&nbsp;Marta Vilela,&nbsp;Ana Beatriz Garcia,&nbsp;Oana Moldovan,&nbsp;Hugo Madeira,&nbsp;Fausto J. Pinto,&nbsp;Dulce Brito","doi":"10.1016/j.repc.2026.03.020","DOIUrl":"10.1016/j.repc.2026.03.020","url":null,"abstract":"<div><h3>Introduction and objectives</h3><div>Hypertrophic cardiomyopathy (HCM) is primarily caused by mutations in the <em>MYH7</em> and <em>MYBPC3</em> genes which exhibit diverse clinical expression and prognosis. This study aims to outline the clinical features and long-term cardiovascular outcome of patients with <em>MYH7</em>-related HCM, and to look for clinical and prognostic implications of specific variants.</div></div><div><h3>Methods</h3><div>A retrospective longitudinal analysis was conducted on 30 unrelated HCM families with pathogenic/likely pathogenic (P/LP) <em>MYH7</em> mutations. A composite endpoint encompassing hospitalisation for heart failure, cardiovascular admissions, or all-cause mortality was evaluated. Kaplan–Meier survival analysis was used to compare outcomes across prevalent variants and genetic profiles.</div></div><div><h3>Results</h3><div>Among 118 individuals (30 probands, 88 relatives), 77 were carriers of P/LP <em>MYH7</em> variants – 69% with HCM (G+/Ph+) at diagnosis and 31% P/LP <em>MYH7</em> variant carriers only (G+/Ph−). Thirteen different P/LP variants were identified in the 30 families, with four (p.Ile263Thr, p.Ala797Thr, p.Glu1356Lys, p.Arg663His) accounting for two-thirds of cases. HCM patients had a mean age at diagnosis of 40.4±18.1 years and 49% were male. Baseline maximal wall thickness (MWT) was 18.6±0.8 mm, left atrial diameter (LAD) was 41.3±9.4 mm, and 23% exhibited resting left ventricular outflow tract obstruction (LVOTO); 68% had abnormal ECGs, but only one patient had atrial fibrillation (AF). Probands showed significantly larger LAD than relatives (p=0.004). A history of premature familial sudden cardiac death (SCD) was reported in 43% families. During a median follow-up of 9.5 years (IQR 3.4–24.7, range 0.2–46.8 years), 35% of patients reached the composite endpoint, including 16 deaths (1 SCD) and 6 heart failure (HF)-related hospitalisations; 30% of patients developed AF, 17% received an ICD for primary prevention of SCD and 17% had a pacemaker implantation. Older age at diagnosis (p&lt;0.01) and increased LAD (p=0.048) predicted poorer outcomes. The composite endpoint was similar between probands and relatives with HCM (p=0.08) and across the main variants (p=0.06). Overall penetrance was 70%, with only one carrier progressing to mild HCM. ESC HCM risk-SCD scores were similar across variants, both at baseline (p=0.601) and at last follow-up (p=0.286).</div></div><div><h3>Conclusions</h3><div>Most patients with <em>MYH7</em>-related HCM presented with a benign phenotype over the long term. Nonetheless, the risks of AF, SCD, and worsening HF throughout life justify regular monitoring, and the need to look for particular genetic profiles that may potentially help tailored management strategies.</div></div>","PeriodicalId":48985,"journal":{"name":"Revista Portuguesa De Cardiologia","volume":"45 10","pages":"Pages 565-578"},"PeriodicalIF":2.0,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148814523","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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