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Primary and secondary cardiovascular prevention through life cycles in women. Consensus document of the SEC-WG CVD in Women, SEC-ACP, SEGO, AEEM, SEEN, semFYC, SEMERGEN, AEP, and AEM.
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-25 DOI: 10.1016/j.rec.2025.01.005
Antonia Sambola, Raquel Campuzano, Almudena Castro, María Goya, Pluvio Coronado, Rosa Fernández-Olmo, Miguel Ángel María-Tablado, Carolina Ortiz-Cortés, Xènia Ortolà, Vicente Pallarés-Carratalá, Antonia Pijuan, Rosa M Plata, Rosa María Sánchez-Hernández, José Manuel Siurana, Càtia Timoteo, Begoña Viejo-Hernández

This consensus document on cardiovascular disease in women summarizes the views of a panel of experts organized by the Working Group on Women and Cardiovascular Disease of the Spanish Society of Cardiology (SEC-WG CVD in Women), and the Association of Preventive Cardiology of the SEC (SEC-ACP). The document was developed in collaboration with experts from various Spanish societies and associations: the Spanish Society of Gynecology and Obstetrics (SEGO), the Spanish Society of Endocrinology and Nutrition (SEEN), the Spanish Association for the Study of Menopause (AEEM), the Spanish Association of Pediatrics (AEP), the Spanish Society of Primary Care Physicians (SEMERGEN), the Spanish Society of Family and Community Medicine (semFYC), and the Association of Spanish Midwives (AEM). The document received formal approval from the SEC. This consensus serves as a guide for the clinical community on the diagnostic approach and management of cardiovascular health during the stages or life cycles of women: adolescence, the menopausal transition, postpartum disorders, and other gynecologic conditions. It is based on current evidence and best available practices.

{"title":"Primary and secondary cardiovascular prevention through life cycles in women. Consensus document of the SEC-WG CVD in Women, SEC-ACP, SEGO, AEEM, SEEN, semFYC, SEMERGEN, AEP, and AEM.","authors":"Antonia Sambola, Raquel Campuzano, Almudena Castro, María Goya, Pluvio Coronado, Rosa Fernández-Olmo, Miguel Ángel María-Tablado, Carolina Ortiz-Cortés, Xènia Ortolà, Vicente Pallarés-Carratalá, Antonia Pijuan, Rosa M Plata, Rosa María Sánchez-Hernández, José Manuel Siurana, Càtia Timoteo, Begoña Viejo-Hernández","doi":"10.1016/j.rec.2025.01.005","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.005","url":null,"abstract":"<p><p>This consensus document on cardiovascular disease in women summarizes the views of a panel of experts organized by the Working Group on Women and Cardiovascular Disease of the Spanish Society of Cardiology (SEC-WG CVD in Women), and the Association of Preventive Cardiology of the SEC (SEC-ACP). The document was developed in collaboration with experts from various Spanish societies and associations: the Spanish Society of Gynecology and Obstetrics (SEGO), the Spanish Society of Endocrinology and Nutrition (SEEN), the Spanish Association for the Study of Menopause (AEEM), the Spanish Association of Pediatrics (AEP), the Spanish Society of Primary Care Physicians (SEMERGEN), the Spanish Society of Family and Community Medicine (semFYC), and the Association of Spanish Midwives (AEM). The document received formal approval from the SEC. This consensus serves as a guide for the clinical community on the diagnostic approach and management of cardiovascular health during the stages or life cycles of women: adolescence, the menopausal transition, postpartum disorders, and other gynecologic conditions. It is based on current evidence and best available practices.</p>","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053754","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Infective endocarditis: a growing threat despite medical progress. A look at trends in Spain.
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-25 DOI: 10.1016/j.rec.2025.01.006
Lucía Cayuela, Pablo Del Valle Loarte, Beatriz Valle Borrego, Aurelio Cayuela

Introduction and objectives: Infective endocarditis (IE) is a serious public health problem both in Spain and worldwide. This study aimed to analyze the trends in the incidence of IE in Spain from 1992 to 2021.

Methods: We used IE incidence data from the Global Health Data Exchange and population data from the Spanish National Statistics Institute to analyze changes in age-standardized incidence rates. Joinpoint and Age-Period-Cohort (A-P-C) models were applied to identify significant trend changes and the effects of age, period, and birth cohort.

Results: The age-standardized incidence rates of IE increased from 17.5 cases per 100 000 population in 1992 to 30.8 per 100,000 in 2021 among men and from 16.8 per 100 000 in 1992 to 22.9 per 100 000 in 2021 among women. Joinpoint analysis revealed distinct trend changes, with men having a faster rate of increase (1.9%) compared with women (1.1%). The male-to-female incidence rate ratio peaked at 1.4, indicating a higher risk of IE among men. The incidence of IE was significantly influenced by age, period, and cohort. Both sexes showed increasing risk with age. Risk increased in women born in the late 20th and early 21st centuries compared with earlier cohorts. Men in these later cohorts showed a decreasing risk. Period effects increased from the 1990s to the mid-2000s and then declined, especially among men.

Conclusions: This study reveals a significant increase in the incidence of IE in Spain, especially among older adults and men. These trends reflect demographic changes, medical advances, and changing risk factors.

{"title":"Infective endocarditis: a growing threat despite medical progress. A look at trends in Spain.","authors":"Lucía Cayuela, Pablo Del Valle Loarte, Beatriz Valle Borrego, Aurelio Cayuela","doi":"10.1016/j.rec.2025.01.006","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.006","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>Infective endocarditis (IE) is a serious public health problem both in Spain and worldwide. This study aimed to analyze the trends in the incidence of IE in Spain from 1992 to 2021.</p><p><strong>Methods: </strong>We used IE incidence data from the Global Health Data Exchange and population data from the Spanish National Statistics Institute to analyze changes in age-standardized incidence rates. Joinpoint and Age-Period-Cohort (A-P-C) models were applied to identify significant trend changes and the effects of age, period, and birth cohort.</p><p><strong>Results: </strong>The age-standardized incidence rates of IE increased from 17.5 cases per 100 000 population in 1992 to 30.8 per 100,000 in 2021 among men and from 16.8 per 100 000 in 1992 to 22.9 per 100 000 in 2021 among women. Joinpoint analysis revealed distinct trend changes, with men having a faster rate of increase (1.9%) compared with women (1.1%). The male-to-female incidence rate ratio peaked at 1.4, indicating a higher risk of IE among men. The incidence of IE was significantly influenced by age, period, and cohort. Both sexes showed increasing risk with age. Risk increased in women born in the late 20th and early 21st centuries compared with earlier cohorts. Men in these later cohorts showed a decreasing risk. Period effects increased from the 1990s to the mid-2000s and then declined, especially among men.</p><p><strong>Conclusions: </strong>This study reveals a significant increase in the incidence of IE in Spain, especially among older adults and men. These trends reflect demographic changes, medical advances, and changing risk factors.</p>","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Mediterranean diet intervention and coronary plaque progression after acute coronary syndrome. The MEDIMACS clinical trial. 地中海饮食干预与急性冠状动脉综合征后冠状动脉斑块的进展。MEDIMACS 临床试验。
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-25 DOI: 10.1016/j.rec.2025.01.008
Ana I Fernández-Ávila, Enrique Gutiérrez-Ibañes, Álvaro Gabaldón, Josep Gómez-Lara, Miguel Ángel Martínez-González, Javier Bermejo
{"title":"Mediterranean diet intervention and coronary plaque progression after acute coronary syndrome. The MEDIMACS clinical trial.","authors":"Ana I Fernández-Ávila, Enrique Gutiérrez-Ibañes, Álvaro Gabaldón, Josep Gómez-Lara, Miguel Ángel Martínez-González, Javier Bermejo","doi":"10.1016/j.rec.2025.01.008","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.008","url":null,"abstract":"","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Beyond the postmortem diagnosis of HCM: a genetic approach guided by clinical and morphological features in Noonan syndrome. 超越 HCM 的尸检诊断:以努南综合征的临床和形态特征为指导的遗传学方法。
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-25 DOI: 10.1016/j.rec.2025.01.007
Elena Sola-García, Birethine Sathiyanathan, Alba María García-García, Mary N Sheppard, María Teresa Tomé-Esteban
{"title":"Beyond the postmortem diagnosis of HCM: a genetic approach guided by clinical and morphological features in Noonan syndrome.","authors":"Elena Sola-García, Birethine Sathiyanathan, Alba María García-García, Mary N Sheppard, María Teresa Tomé-Esteban","doi":"10.1016/j.rec.2025.01.007","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.007","url":null,"abstract":"","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Risk factors for the progression of aortic regurgitation following surgical repair of sinus of Valsalva aneurysms. Analysis of 317 cases.
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-24 DOI: 10.1016/j.rec.2025.01.004
Tianyu Chen, Jianzheng Cen, Shusheng Wen, Jimei Chen, Jian Zhuang, Xiaobing Liu
{"title":"Risk factors for the progression of aortic regurgitation following surgical repair of sinus of Valsalva aneurysms. Analysis of 317 cases.","authors":"Tianyu Chen, Jianzheng Cen, Shusheng Wen, Jimei Chen, Jian Zhuang, Xiaobing Liu","doi":"10.1016/j.rec.2025.01.004","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.004","url":null,"abstract":"","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Machine learning prediction of in-hospital mortality and external validation in patients with cardiogenic shock: the RESCUE score.
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-22 DOI: 10.1016/j.rec.2025.01.003
Hyun Cha Ji, Hong Choi Ki, Chul-Min Ahn, Yu Cheol Woong, Hyun Park Ik, Woo Jin Jang, Hyun-Joong Kim, Jang-Whan Bae, Sung Uk Kwon, Hyun-Jong Lee, Wang Soo Lee, Jin-Ok Jeong, Sang-Don Park, Taek Kyu Park, Joo Myung Lee, Young Bin Song, Joo-Yong Hahn, Seung-Hyuk Choi, Hyeon-Cheol Gwon, Jeong Hoon Yang

Introduction and objectives: Despite advances in mechanical circulatory support, mortality rates in cardiogenic shock (CS) remain high. A reliable risk stratification system could serve as a valuable guide in the clinical management of patients with CS. This study aimed to develop and externally validate a risk prediction model for in-hospital mortality in CS patients using machine learning (ML) algorithms.

Methods: Data from 1247 patients with all-cause CS in the RESCUE registry (January 2014-December 2018) were analyzed. Key predictive variables were identified using 4 ML algorithms. A risk prediction model, the RESCUE score, was developed using logistic regression based on the selected variables. Internal validation was conducted within the RESCUE registry, and external validation was performed using an independent CS registry of 750 patients.

Results: The 4 ML models identified 7 predictors: age, vasoactive inotropic score, left ventricular ejection fraction, lactic acid level, in-hospital cardiac arrest at presentation, need for continuous renal replacement therapy, and mechanical ventilation. The RESCUE score demonstrated strong predictive performance, with an AUC of 0.86 (95%CI, 0.83-0.88) for in-hospital mortality. Ten-fold internal cross-validation yielded an AUC of 0.86 (95%CI, 0.77-0.95). External validation showed an AUC of 0.80 (95%CI, 0.76-0.84).

Conclusions: Our ML-based risk-scoring system, the RESCUE score, demonstrated excellent predictive performance for in-hospital mortality in all patients with CS patients, regardless of cause. The system could be a useful and reliable tool to estimate risk stratification of CS in everyday clinical practice.

Clinical trial registration: NCT02985008.

{"title":"Machine learning prediction of in-hospital mortality and external validation in patients with cardiogenic shock: the RESCUE score.","authors":"Hyun Cha Ji, Hong Choi Ki, Chul-Min Ahn, Yu Cheol Woong, Hyun Park Ik, Woo Jin Jang, Hyun-Joong Kim, Jang-Whan Bae, Sung Uk Kwon, Hyun-Jong Lee, Wang Soo Lee, Jin-Ok Jeong, Sang-Don Park, Taek Kyu Park, Joo Myung Lee, Young Bin Song, Joo-Yong Hahn, Seung-Hyuk Choi, Hyeon-Cheol Gwon, Jeong Hoon Yang","doi":"10.1016/j.rec.2025.01.003","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.003","url":null,"abstract":"<p><strong>Introduction and objectives: </strong>Despite advances in mechanical circulatory support, mortality rates in cardiogenic shock (CS) remain high. A reliable risk stratification system could serve as a valuable guide in the clinical management of patients with CS. This study aimed to develop and externally validate a risk prediction model for in-hospital mortality in CS patients using machine learning (ML) algorithms.</p><p><strong>Methods: </strong>Data from 1247 patients with all-cause CS in the RESCUE registry (January 2014-December 2018) were analyzed. Key predictive variables were identified using 4 ML algorithms. A risk prediction model, the RESCUE score, was developed using logistic regression based on the selected variables. Internal validation was conducted within the RESCUE registry, and external validation was performed using an independent CS registry of 750 patients.</p><p><strong>Results: </strong>The 4 ML models identified 7 predictors: age, vasoactive inotropic score, left ventricular ejection fraction, lactic acid level, in-hospital cardiac arrest at presentation, need for continuous renal replacement therapy, and mechanical ventilation. The RESCUE score demonstrated strong predictive performance, with an AUC of 0.86 (95%CI, 0.83-0.88) for in-hospital mortality. Ten-fold internal cross-validation yielded an AUC of 0.86 (95%CI, 0.77-0.95). External validation showed an AUC of 0.80 (95%CI, 0.76-0.84).</p><p><strong>Conclusions: </strong>Our ML-based risk-scoring system, the RESCUE score, demonstrated excellent predictive performance for in-hospital mortality in all patients with CS patients, regardless of cause. The system could be a useful and reliable tool to estimate risk stratification of CS in everyday clinical practice.</p><p><strong>Clinical trial registration: </strong>NCT02985008.</p>","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Temporal trends in implantable cardioverter defibrillator prescription as primary prevention in dilated cardiomyopathy.
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-22 DOI: 10.1016/j.rec.2024.11.017
Carlos Moliner-Abós, Meritxell Santaló-Corcoy, Javier Meseguer-Donlo, Andrea Crehuet-Llonch, Bieito Campos Garcia, Sònia Mirabet Pérez
{"title":"Temporal trends in implantable cardioverter defibrillator prescription as primary prevention in dilated cardiomyopathy.","authors":"Carlos Moliner-Abós, Meritxell Santaló-Corcoy, Javier Meseguer-Donlo, Andrea Crehuet-Llonch, Bieito Campos Garcia, Sònia Mirabet Pérez","doi":"10.1016/j.rec.2024.11.017","DOIUrl":"https://doi.org/10.1016/j.rec.2024.11.017","url":null,"abstract":"","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Risk assessment of pregnant patients with heart disease: mWHO vs CARPREG II risk scores.
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-22 DOI: 10.1016/j.rec.2025.01.002
Antonia Pijuan-Domenech, Laura Galian-Gay, Javier Cantalapiedra, Berta Serrano, Maria Goya, Nerea Maiz
{"title":"Risk assessment of pregnant patients with heart disease: mWHO vs CARPREG II risk scores.","authors":"Antonia Pijuan-Domenech, Laura Galian-Gay, Javier Cantalapiedra, Berta Serrano, Maria Goya, Nerea Maiz","doi":"10.1016/j.rec.2025.01.002","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.002","url":null,"abstract":"","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143042368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Frailty and invasive management of NSTEACS: lights and shadows. NSTEACS的脆弱性和侵入性治疗:光与影。
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-18 DOI: 10.1016/j.rec.2025.01.001
Francisco Buendía-Santiago, Antonio Meseguer-Hernández, José Manuel Andreu-Cayuelas, Juan Antonio Castillo-Moreno
{"title":"Frailty and invasive management of NSTEACS: lights and shadows.","authors":"Francisco Buendía-Santiago, Antonio Meseguer-Hernández, José Manuel Andreu-Cayuelas, Juan Antonio Castillo-Moreno","doi":"10.1016/j.rec.2025.01.001","DOIUrl":"https://doi.org/10.1016/j.rec.2025.01.001","url":null,"abstract":"","PeriodicalId":38430,"journal":{"name":"Revista española de cardiología (English ed.)","volume":" ","pages":""},"PeriodicalIF":7.2,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain. 西班牙Val142Ile变异引起的遗传性甲状腺转蛋白淀粉样变。
IF 7.2 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2025-01-17 DOI: 10.1016/j.rec.2024.12.012
Fernando de Frutos, Lorena Herrador, Belén Peiró-Aventín, Rocío Eiros, Javier Limeres Freire, Esther Zorio, Álvaro Carbayo, Pasqual Llongueras Espi, Ana García-Álvarez, Tomás Ripoll-Vera, Rosa Macías, Silvia Vilches, Sonia Ruiz-Bustillo, Xabier Arana-Achaga, Jara Gayán Ordás, Jesús Piqueras-Flores, María Ruiz-Cueto, Carlos Casasnovas, Coloma Tirón, Ricard Rojas-García, Teresa Sevilla, José Fernando Rodríguez-Palomares, Esther González-López, Eduardo Villacorta, Pablo García-Pavía, José González-Costello

Introduction and objectives: In recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to the p.Val142Ile variant have been described in patients without African ancestry. The aim of this study was to analyze the impact of ATTRv caused by p.Val142Ile in Spain, focusing on its phenotypic characteristics and its population frequency.

Methods: Patients diagnosed with ATTRv caused by p.Val142Ile, as well as carriers irrespective of their phenotype, were recruited from 16 centers in Spain. Baseline characteristics and events during follow-up were retrieved. Population frequency was assessed using data from the Spanish National DNA Bank (N = 3569) and the Catalan Health Databank (N = 790).

Results: The cohort included 164 participants: 75 probands (45.7%) and 89 relatives (54.3%). Among the probands, the mean age was 73.9 ± 8.5 years, and 47 (62.7%) were male. Sixty-seven probands (89.3%) reported European ancestry, while only 6 (8%) reported African ancestry. Cardiac symptoms were the most frequent reason for ATTRv diagnosis (n = 64; 85.3%). The median follow-up was 2.6 years [Interquartile range, 1.5-4.1]. Overall penetrance at ages 65, 75, and 85 years was 12.8%, 44.3%, and 94.2%, respectively. Tafamidis therapy was initiated during follow-up in 38 patients: after 1 year of treatment, 14 patients (38.9%) met the combined endpoint (12 experienced disease progression and 2 died from cardiovascular causes). Population frequency was estimated to range between 0.0% and 0.12%, based on data from the Spanish and Catalan databases, respectively.

Conclusions: ATTRv caused by p.Val142Ile has a significant prevalence in Spain. Its phenotypic features are characterized by late onset, male predominance, and cardiac involvement.

简介和目的:近年来,在没有非洲血统的患者中报道了几例由p.Val142Ile变异引起的遗传性甲状腺转蛋白淀粉样变性(ATTRv)。本研究的目的是分析p.Val142Ile在西班牙引起的ATTRv的影响,重点分析其表型特征和种群频率。方法:从西班牙的16个中心招募被诊断为p.Val142Ile引起的ATTRv的患者,以及无论其表型如何的携带者。检索随访期间的基线特征和事件。使用西班牙国家DNA银行(N = 3569)和加泰罗尼亚健康数据库(N = 790)的数据评估人群频率。结果:共纳入164名受试者,其中先证者75人(45.7%),亲属89人(54.3%)。先证者平均年龄73.9±8.5岁,男性47例(62.7%)。67名先证者(89.3%)报告了欧洲血统,而只有6名(8%)报告了非洲血统。心脏症状是诊断ATTRv最常见的原因(n = 64;85.3%)。中位随访时间为2.6年[四分位数间距,1.5-4.1]。65岁、75岁和85岁的总外显率分别为12.8%、44.3%和94.2%。38例患者在随访期间开始他法非地治疗:治疗1年后,14例患者(38.9%)达到联合终点(12例出现疾病进展,2例死于心血管原因)。根据分别来自西班牙和加泰罗尼亚数据库的数据,人口频率估计在0.0%至0.12%之间。结论:在西班牙由p.Val142Ile引起的ATTRv患病率较高。其表型特征为发病晚、男性为主、累及心脏。
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Revista española de cardiología (English ed.)
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