المؤلفون: Segovia-Cubero, Javier, Ruiz-Bautista, Lorena, Maiz-Carro, Luis, Girón-Moreno, Rosa M., Prados-Sánchez, M. Concepción, Martínez-Martínez, M. Teresa, González-Estecha, Montserrat, Mingo-Santos, Susana, Gómez-Bueno, Manuel, Salas-Antón, Clara, Cavero-Gibanel, Miguel A., Pastrana-Ledesma, Miguel, García-Pavía, Pablo, Laporta-Hernández, Rosalía, Sánchez-Ortiz, David, Alonso-Pulpón, Luis

المصدر: Frontiers in Cardiovascular Medicine ; volume 11 ; ISSN 2297-055X

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الوصف: Introduction We conducted a study to determine the prevalence of structural heart disease in patients with CF, the characteristics of a cardiomyopathy not previously described in this population, and its possible relationship with nutritional deficiencies in CF. Methods We studied 3 CMP CF patients referred for heart-lung transplantation and a prospective series of 120 adult CF patients. All patients underwent a clinical examination, blood tests including levels of vitamins and trace elements, and echocardiography with evaluation of myocardial strain. Cardiac magnetic resonance imaging (CMR) was performed in patients with CMP and in a control group. Histopathological study was performed on hearts obtained in transplant or necropsy. Results We found a prevalence of 10% (CI 4.6%–15.4%) of left ventricular (LV) dysfunction in the prospective cohort. Myocardial strain parameters were already altered in CF patients with otherwise normal hearts. Histopathological examination of 4 hearts from CF CMP patients showed a unique histological pattern of multifocal myocardial fibrosis similar to Keshan disease. Four of the five CF CMP patients undergoing CMR showed late gadolinium uptake, with a characteristic patchy pattern in 3 cases ( p < 0.001 vs. CF controls). Selenium deficiency (Se < 60 µg/L) was associated with more severe LV dysfunction, higher prevalence of CF CMP, higher NTproBNP levels, and more severe pulmonary and digestive involvement. Conclusion 10% of adults with CF showed significant cardiac involvement, with histological and imaging features resembling Keshan disease. Selenium deficiency was associated with the presence and severity of LV dysfunction in these patients.

الإتاحة: https://doi.org/10.3389/fcvm.2024.1285223Test

المؤلفون: Gutiérrez-Landaluce, Carlos, Aceña Navarro, Álvaro, Pello, Ana, Martínez-Milla, Juan, González-Lorenzo, Óscar, Tarín, Nieves, Cristóbal, Carmen, Blanco-Colio, Luis M., Martín Ventura, José Luis, Huelmos, Ana, López-Castillo, Marta, Alonso, Joaquín, López Bescós, Lorenzo, Alonso-Pulpón, Luis, González-Parra, Emilio, Egido, Jesús, Mahíllo-Fernández, Ignacio, Lorenzo González, Óscar, González-Casaus, María Luisa, Tuñón Fernández, José Luis

المساهمون: UAM. Departamento de Medicina

مصطلحات موضوعية: Coronary artery disease, Fibroblast growth factor-23, Mineral metabolism, Parathormone, Medicina

الوصف: Aims: There are controversial data on the ability of the components of mineral metabolism (vitamin D, phosphate, parathormone [PTH], fibroblast growth factor-23 [FGF23], and klotho) to predict cardiovascular events. In addition, it is unknown whether they add any prognostic value to other well-known biomarkers. Methods and results: In 969 stable coronary patients, we determined plasma levels of all the aforementioned components of mineral metabolism with a complete set of clinical and biochemical variables, including N-terminal pro-brain natriuretic peptide (NT-proBNP), high-sensitivity troponin I (hs-TnI), and high-sensitivity C-reactive protein. Secondary outcomes were ischaemic events (any acute coronary syndrome, stroke, or transient ischaemic attack) and heart failure or death. The primary outcome was a composite of the secondary outcomes. Median follow-up was 5.39 years. Age was 60 (52–72) years. Median glomerular filtration rate was 80.4 (65.3–93.1) mL/min/1.73 m2. One-hundred and eighty-five patients developed the primary outcome. FGF23, PTH, hs-TnI, and NT-proBNP were directly related with the primary outcome on univariate Cox analysis, while Klotho and calcidiol were inversely related. On multivariate analysis, only PTH (HR 1.058 [CI 1.021–1.097]; P = 0.002) and NT-proBNP (HR 1.020 [CI 1.012–1.028]; P < 0.001) were independent predictors of the primary outcome but also for the secondary outcome of heart failure or death (HR 1.066 [CI 1.016–1.119]; P = 0.009 and HR 1.024 [CI 1.014–1.034]; P < 0.001, respectively). PTH was the only biomarker that predicted ischaemic events (HR 1.052 [1.010–1.096]; P = 0.016). Patients were divided in two subgroups according to FGF23 plasma levels. PTH retained its prognostic value only in patients with FGF23 levels above the median (>85.5 RU/mL) (P < 0.001) but not in patients with low FGF23 levels (P = 0.551). There was a significant interaction between FGF23 and PTH (P = 0.002). However, there was no significant interaction between PTH and both klotho and ...

وصف الملف: application/pdf

العلاقة: ESC Heart Failure; Gobierno de España. PI05/0451; Gobierno de España. PI14/1567; Gobierno de España. PI17/01615; Gobierno de España. PI17/01495; Gobierno de España. RD06/0014/0035; Gobierno de España. RD09/0076/00101; ESC Heart Failure 8.4 (2021): 2713-2722; http://hdl.handle.net/10486/705140Test; 2713; 2722

الإتاحة: https://doi.org/10.1002/ehf2.13331Test
http://hdl.handle.net/10486/705140Test

المؤلفون: Seidman, Christine E, Ware, James S, Ky, Bonnie, Seidman, Jonathan G, Aplenc, Richard, Barton, Paul J R, DePalma, Steven R, Cook, Stuart A, Alonso-Pulpon, Luis, Lyon, Alexander R, Provencio, Mariano, Lara-Pezzi, Enrique, Prasad, Sanjay K, Rosen, Stuart D, O'Regan, Declan P, Baksi, A John, Dominguez, Fernando, Pantazis, Antonis, Manuel Garcia-Pinilla, Jose, Ahmad, Mian, de Marvao, Antonio, Pascual-Figal, Domingo A, Tayal, Upasana, Buchan, Rachel, Ingold, Nathan, Bardaji, Alfredo, Wilk, Alicja, Midwinter, William, Serrano, Isabel, Whiffin, Nicola, Lupon, Josep, Finkelman, Brian, Walsh, Roddy, Bayes-Genis, Antoni, Mazaika, Erica, Nunez, Beatriz, Govind, Risha, Owens, Anjali T, Li, Jian, Arany, Zoltan, Willcox, Jonathan A, Ito, Kaoru, Patel, Parth, Gorham, Joshua, Getz, Kelly, Toepfer, Christopher N, Smith, Amanda M, Wakimoto, Hiroko, Lunde, Ida G, Alejandra Restrepo-Cordoba, Maria, Kim, Yuri, Garcia-Pavia, Pablo

المساهمون: Universitat Rovira i Virgili

المصدر: Circulation ; 10.1161/CIRCULATIONAHA.118.037934 ; Circulation. 140 (1): 31-41

مصطلحات موضوعية: Cardiac & Cardiovascular Systems,Cardiology and Cardiovascular Medicine,Hematology,Peripheral Vascular Disease,Physiology (Medical), Titin, Polymorphisms, Mutations, Medical oncology, Genetics, Familial dilated cardiomyopathy, Echocardiography, Drug therapy, Congestive-heart-failure, Chemotherapy, Cardiotoxicity, Cardiomyopathies, American society, A-band truncation, Saúde coletiva, Physiology (medical), Peripheral vascular disease, Nutrição, Medicina iii, Medicina ii, Medicina i, Interdisciplinar, Hematology, General medicine, Farmacia, Ensino, Engenharias iv, Engenharias ii, Enfermagem

الوصف: Background: Cancer therapy-induced cardiomyopathy (CCM) is associated with cumulative drug exposures and preexisting cardiovascular disorders. These parameters incompletely account for substantial interindividual susceptibility to CCM. We hypothesized that rare variants in cardiomyopathy genes contribute to CCM. Methods: We studied 213 patients with CCM from 3 cohorts: retrospectively recruited adults with diverse cancers (n=99), prospectively phenotyped adults with breast cancer (n=73), and prospectively phenotyped children with acute myeloid leukemia (n=41). Cardiomyopathy genes, including 9 prespecified genes, were sequenced. The prevalence of rare variants was compared between CCM cohorts and The Cancer Genome Atlas participants (n=2053), healthy volunteers (n=445), and an ancestry-matched reference population. Clinical characteristics and outcomes were assessed and stratified by genotypes. A prevalent CCM genotype was modeled in anthracycline-treated mice. Results: CCM was diagnosed 0.4 to 9 years after chemotherapy; 90% of these patients received anthracyclines. Adult patients with CCM had cardiovascular risk factors similar to the US population. Among 9 prioritized genes, patients with CCM had more rare protein-altering variants than comparative cohorts (P <= 1.98e-04). Titin-truncating variants (TTNtvs) predominated, occurring in 7.5% of patients with CCM versus 1.1% of The Cancer Genome Atlas participants (P=7.36e-08), 0.7% of healthy volunteers (P=3.42e-06), and 0.6% of the reference population (P=5.87e-14). Adult patients who had CCM with TTNtvs experienced more heart failure and atrial fibrillation (P=0.003) and impaired myocardial recovery (P=0.03) than those without. Consistent with human data, anthracycline-treated TTNtv mice and isolated TTNtv cardiomyoc

العلاقة: http://hdl.handle.net/20.500.11797/imarina5761447Test

الإتاحة: https://doi.org/20.500.11797/imarina5761447Test
https://doi.org/10.1161/CIRCULATIONAHA.118.037934Test
https://hdl.handle.net/20.500.11797/imarina5761447Test

المؤلفون: Restrepo-Cordoba, M. Alejandra, Campuzano, Oscar, Ripoll-Vera, Tomás, Cobo-Marcos, Marta, Mademont-Soler, Irene, Gámez, José M., Dominguez, Fernando, Gonzalez-Lopez, Esther, Padron-Barthe, Laura, Lara-Pezzi, Enrique, Alonso-Pulpon, Luis, Brugada, Ramon, García Pavía, Pablo

الوصف: post-print ; 123 KB

العلاقة: https://link.springer.com/article/10.1007/s12265-019-09901-5Test; http://hdl.handle.net/10641/2233Test

الإتاحة: https://doi.org/10.1007/s12265-017-9730-8Test
http://hdl.handle.net/10641/2233Test

المؤلفون: Garcia-Pavia, Pablo, Kim, Yuri, Restrepo-Cordoba, Maria Alejandra, Lunde, Ida G, Wakimoto, Hiroko, Smith, Amanda M, Toepfer, Christopher N, Getz, Kelly, Gorham, Joshua, Patel, Parth, Ito, Kaoru, Willcox, Jonathan A, Arany, Zoltan, Li, Jian, Owens, Anjali T, Govind, Risha, Nuñez, Beatriz, Mazaika, Erica, Bayes-Genis, Antoni, Walsh, Roddy, Finkelman, Brian, Lupon, Josep, Whiffin, Nicola, Serrano, Isabel, Midwinter, William, Wilk, Alicja, Bardaji, Alfredo, Ingold, Nathan, Buchan, Rachel, Tayal, Upasana, Pascual-Figal, Domingo A, de Marvao, Antonio, Ahmad, Mian, Garcia-Pinilla, Jose Manuel, Pantazis, Antonis, Dominguez, Fernando, John Baksi, A, O'Regan, Declan P, Rosen, Stuart D, Prasad, Sanjay K, Lara-Pezzi, Enrique, Provencio, Mariano, Lyon, Alexander R, Alonso-Pulpon, Luis, Cook, Stuart A, DePalma, Steven R, Barton, Paul J R, Aplenc, Richard, Seidman, Jonathan G, Ky, Bonnie, Ware, James S, Seidman, Christine E

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Wellcome Trust, Medical Research Council (Reino Unido), National Institute for Health Research (Reino Unido), Imperial College London (Reino Unido), Fondation Leducq, British Heart Foundation, National Institutes of Health (Estados Unidos), Howard Hughes Medical Institute, Fundación ProCNIC, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)

مصطلحات موضوعية: Cardiomyopathies, Drug therapy, Genetics, Medical oncology, Titin

الوصف: BACKGROUND: Cancer therapy-induced cardiomyopathy (CCM) is associated with cumulative drug exposures and preexisting cardiovascular disorders. These parameters incompletely account for substantial interindividual susceptibility to CCM. We hypothesized that rare variants in cardiomyopathy genes contribute to CCM. METHODS: We studied 213 patients with CCM from 3 cohorts: retrospectively recruited adults with diverse cancers (n=99), prospectively phenotyped adults with breast cancer (n=73), and prospectively phenotyped children with acute myeloid leukemia (n=41). Cardiomyopathy genes, including 9 prespecified genes, were sequenced. The prevalence of rare variants was compared between CCM cohorts and The Cancer Genome Atlas participants (n=2053), healthy volunteers (n=445), and an ancestry-matched reference population. Clinical characteristics and outcomes were assessed and stratified by genotypes. A prevalent CCM genotype was modeled in anthracycline-treated mice. RESULTS: CCM was diagnosed 0.4 to 9 years after chemotherapy; 90% of these patients received anthracyclines. Adult patients with CCM had cardiovascular risk factors similar to the US population. Among 9 prioritized genes, patients with CCM had more rare protein-altering variants than comparative cohorts ( P≤1.98e-04). Titin-truncating variants (TTNtvs) predominated, occurring in 7.5% of patients with CCM versus 1.1% of The Cancer Genome Atlas participants ( P=7.36e-08), 0.7% of healthy volunteers ( P=3.42e-06), and 0.6% of the reference population ( P=5.87e-14). Adult patients who had CCM with TTNtvs experienced more heart failure and atrial fibrillation ( P=0.003) and impaired myocardial recovery ( P=0.03) than those without. Consistent with human data, anthracycline-treated TTNtv mice and isolated TTNtv cardiomyocytes showed sustained contractile dysfunction unlike wild-type ( P=0.0004 and P<0.002, respectively). CONCLUSIONS: Unrecognized rare variants in cardiomyopathy-associated genes, particularly TTNtvs, increased the risk for CCM in children and ...

العلاقة: https://doi.org/10.1161/CIRCULATIONAHA.118.037934Test; info:eu-repo/grantAgreement/ES/SEV-2015-0505; info:eu-repo/grantAgreement/ES/PI15/01551; info:eu-repo/grantAgreement/ES/PI17/01941; info:eu-repo/grantAgreement/ES/CB16/11/00432; info:eu-repo/grantAgreement/ES/SAF2015-71863-REDT; Circulation. 2019; 140(1):31-41; http://hdl.handle.net/10668/13834Test; http://hdl.handle.net/20.500.12105/7992Test; Circulation

الإتاحة: https://doi.org/20.500.12105/7992Test
https://doi.org/10.1161/CIRCULATIONAHA.118.037934Test
http://hdl.handle.net/10668/13834Test
https://hdl.handle.net/20.500.12105/7992Test

المؤلفون: Amor Salamanca, Almudena, Guzzo Merelloa, Gonzalo, González López, Esther, Domínguez, Fernando, Restrepo Córdoba, Alejandra, Cobo Marcos, Marta, Gómez Bueno, Manuel, Segovia Cubero, Javier, Alonso Pulpón, Luis, García Pavía, Pablo

مصطلحات موضوعية: Miocardiopatía alcohólica, Alcohol, Miocardiopatía dilatada, Fracción de eyección del ventrículo izquierdo

الوصف: Introducción y objetivos: La recuperación de la fracción de eyección del ventrículo izquierdo (FEVI) está descrita en la miocardiopatía alcohólica (MCA) tras la abstinencia alcohólica. Sin embargo, se desconoce el impacto pronóstico de esta recuperación y los factores a los que se asocia. Nuestro objetivo es definir el papel pronóstico a largo plazo de la mejoría de la FEVI en la MCA e identificar sus predictores. Métodos: Se evaluaron 101 pacientes con MCA con una mediana de seguimiento de 82 meses [rango intercuartílico 36–134]. Resultados: Al final del seguimiento, 42 pacientes (42%) mostraron una recuperación significativa de la FEVI, definida como un incremento absoluto ≥ 10% y FEVI final ≥ 40%. Estos pacientes mostraron mejor pronóstico que aquellos sin recuperación de la FEVI (trasplante cardiaco o muerte cardiovascular 1 frente al 30%; p < 0,001). La duración del QRS < 120 ms (OR = 6,68; IC95%, 2,30-19,41), el tratamiento bloqueador beta (OR = 3,01; IC95%, 1,09-8,28), y no necesitar diuréticos (OR = 3,35; IC95%, 1,08-10,42) predijeron la recuperación de la FEVI en el análisis multivariado. Aunque el cese del consumo de alcohol no fue predictor, ninguno de los pacientes (n = 6) que mantuvo un consumo excesivo recuperaron la FEVI. El número de pacientes que recuperaron la FEVI entre los abstemios y aquellos que mantuvieron un consumo moderado fue similar (44 frente al 45%; p = 0,9). Conclusiones: La recuperación de la FEVI se asocia con un excelente pronóstico en la MCA. El tratamiento betabloqueante, un QRS < 120 ms y no tomar diuréticos son predictores independientes de esta recuperación. La recuperación de la FEVI es similar entre bebedores moderados y abstemios. ; pre-print ; 388 KB

العلاقة: https://www.revespcardiol.org/es-impacto-pronostico-factores-predictores-recuperacion-articulo-S0300893217307558?redirect=trueTest; http://hdl.handle.net/10641/1777Test

الإتاحة: https://doi.org/10.1016/j.recesp.2017.11.021Test
http://hdl.handle.net/10641/1777Test

المؤلفون: González-Vílchez, Francisco, Almenar-Bonet, Luis, Crespo-Leiro, María Generosa, Alonso-Pulpón, Luis, González-Costello, José, Sobrino-Márquez, José Manuel, Arizón-del-Prado, José M., Sousa-Casasnovas, Iago, Delgado-Jiménez, Juan F., Pérez-Villa, Félix

مصطلحات موضوعية: Trasplante cardiaco, Registro, Supervivencia

الوصف: [Resumen] Introducción y objetivos. Se actualizan las características clínicas y los resultados de los trasplantes cardiacos realizados en España en el periodo 2008-2017. Métodos. Se describen las características de los receptores, los donantes, los procedimientos quirúrgicos y los resultados de los trasplantes realizados en 2017 y se ponen en contexto respecto a los del periodo 2008-2016. Resultados. En 2017 se realizaron 304 trasplantes. Desde 1984, se han realizado 8.173 trasplantes, 2.689 de ellos desde 2008. Para el periodo 2008-2017, se observan tendencias temporales significativas en las características del receptor (menores resistencias vasculares pulmonares, menos ventilación mecánica previa al trasplante, mayor tasa de diabéticos y cirugía cardiaca previa), el donante (de más edad, más donantes mujeres y más donantes con parada cardiaca) y el procedimiento (menos tiempo de isquemia). En 2017, el 27% de los trasplantes se realizaron previa asistencia ventricular mecánica (p < 0,001 para la tendencia). En la última década, se observa una tendencia a una mejor supervivencia. Conclusiones. La actividad de trasplante cardiaco se estabiliza en alrededor de 300 procedimientos al año. Se extiende el uso de dispositivos de asistencia ventricular antes del trasplante, con tendencia a la mejora de la supervivencia.

العلاقة: http://dx.doi.org/10.1016/j.recesp.2018.07.020Test; González-Vílchez F, Almenar-Bonet L, Crespo-Leiro MG, et al. Registro Español de Trasplante Cardiaco: XXIX Informe Oficial de la Sección de Insuficiencia Cardiaca de la Sociedad Española de Cardiología (1984-2017). Rev Esp Cardiol. 2018; 71(11): 952-960; http://hdl.handle.net/2183/21660Test

الإتاحة: https://doi.org/10.1016/j.recesp.2018.07.020Test
http://hdl.handle.net/2183/21660Test

المؤلفون: Ware, James S, Amor-Salamanca, Almudena, Tayal, Upasana, Govind, Risha, Serrano, Isabel, Salazar-Mendiguchía, Joel, García-Pinilla, Jose Manuel, Pascual-Figal, Domingo A, Nuñez, Julio, Guzzo-Merello, Gonzalo, Gonzalez-Vioque, Emiliano, Bardaji, Alfredo, Manito, Nicolas, López-Garrido, Miguel A, Padron-Barthe, Laura, Edwards, Elizabeth, Whiffin, Nicola, Walsh, Roddy, Buchan, Rachel J, Midwinter, William, Wilk, Alicja, Prasad, Sanjay, Pantazis, Antonis, Baski, John, O'Regan, Declan P, Alonso-Pulpon, Luis, Cook, Stuart A, Lara-Pezzi, Enrique, Barton, Paul J, Garcia-Pavia, Pablo

مصطلحات موضوعية: alcohol, dilated cardiomyopathy, genetics, titin, variant, Adult, Aged, Cardiomyopathy, Alcoholic, Cardiotoxicity, Cohort Studies, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Prospective Studies, Self Report

الوصف: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. This study sought to evaluate the role of variation in cardiomyopathy-associated genes in the pathophysiology of ACM, and to examine the effects of alcohol intake and genotype on dilated cardiomyopathy (DCM) severity. The authors characterized 141 ACM cases, 716 DCM cases, and 445 healthy volunteers. The authors compared the prevalence of rare, protein-altering variants in 9 genes associated with inherited DCM. They evaluated the effect of genotype and alcohol consumption on phenotype in DCM. Variants in well-characterized DCM-causing genes were more prevalent in patients with ACM than control subjects (13.5% vs. 2.9%; p = 1.2 ×10-5), but similar between patients with ACM and DCM (19.4%; p = 0.12) and with a predominant burden of titin truncating variants (TTNtv) (9.9%). Separately, we identified an interaction between TTN genotype and excess alcohol consumption in a cohort of DCM patients not meeting ACM criteria. On multivariate analysis, DCM patients with a TTNtv who consumed excess alcohol had an 8.7% absolute reduction in ejection fraction (95% confidence interval: -2.3% to -15.1%; p TTNtv represent a prevalent genetic predisposition for ACM, and are also associated with a worse left ventricular ejection fraction in DCM patients who consume alcohol above recommended levels. Familial evaluation and genetic testing should be considered in patients presenting with ACM.

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/12481Test; PMC5957753; https://doi.org/10.1016/j.jacc.2018.03.462Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5957753/pdfTest

الإتاحة: https://doi.org/10.1016/j.jacc.2018.03.462Test
http://hdl.handle.net/10668/12481Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5957753/pdfTest

المؤلفون: Domínguez, Fernando, Cuenca, Sofía, Bilińska, Zofia, Toro, Rocío, Villard, Eric, Barriales-Villa, Roberto, Ochoa, Juan Pablo, Asselbergs, Folkert, Sammani, Arjan, Franaszczyk, Maria, Akhtar, Mohammed, Coronado-Albi, Maria José, Rangel-Sousa, Diego, Rodriguez-Palomares, Jose F., Jiménez-Jáimez, Juan, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomás, Mogollón-Jiménez, Maria Victoria, Fontalba-Romero, Ana, Garcia-Medina, Dolores, Palomino-Doza, Julian, de Gonzalo-Calvo, David, Cicerchia, Marcos, Salazar-Mendiguchia, Joel, Salas, Clara, Pankuweit, Sabine, Hey, Thomas Morris, Mogensen, Jens, Barton, Paul J., Charron, Philippe, Elliott, Perry, Garcia-Pavia, Pablo, Eiskjær, Hans, Barriales, Roberto, Fernández Fernández, Xusto, Monserrat, Lorenzo, Mogollón, Maria Victoria, Ripoll, Tomás, Richard, Pascale, Palomino Doza, Julian, Fontalba, Ana, Alonso-Pulpón, Luis, Cobo-Marcos, Marta

المصدر: Journal of the American College of Cardiology ; volume 72, issue 20, page 2471-2481 ; ISSN 0735-1097

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الإتاحة: https://doi.org/10.1016/j.jacc.2018.08.2181Test
https://api.elsevier.com/content/article/PII:S0735109718385176?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0735109718385176?httpAccept=text/plainTest

المؤلفون: González López, Esther, Gagliardi, Christian, Domínguez, Fernando, Quarta, Cristina Candida, De Haro del Moral, Francisco Javier, Milandri, Agnese, Salas, Clara, Cinelli, Mario, Cobo Marcos, Marta, Lorenzini, Massimiliano, Lara Pezzi, Enrique, Foffi, Serena, Alonso Pulpón, Luis, Rapezzi, Claudio, García Pavía, Pablo

مصطلحات موضوعية: Amiloidosis cardiaca, Transtiretina, Gammagrafía Tc-DPD

الوصف: Aims: Wild-type transthyretin amyloidosis (ATTRwt) is mostly considered a disease predominantly of elderly male, characterised by concentric LV hypertrophy, preserved LVEF and low QRS voltages. We sought to describe the characteristics of a large cohort of ATTRwt patients to better define the disease. Methods and Results: Clinical findings of consecutive ATTRwt patients diagnosed at 2 centres were reviewed. ATTRwt was diagnosed histologically or non-invasively (LV hypertrophy 12mm, intense cardiac uptake at 99mTc-DPD scintigraphy and AL exclusion). Mutations in TTR were excluded in all cases. The study cohort comprised 108 patients (78.68 years); 67 (62%) diagnosed invasively and 41 (38%) non-invasively. Twenty patients (19%) were females. An asymmetric hypertrophy pattern was observed in 25 (23%) patients. Mean LVEF was 5214%, with 39 patients (37%) showing a LVEF<50%. Atrial fibrillation (56%) and a pseudo-infarct pattern (63%) were the commonest ECG findings. Only 22 patients fulfilled QRS low-voltage criteria while 10 showed LV hypertrophy on ECG. Although heart failure was the most frequent profile leading to diagnosis (68%), 7% of individuals presented with atrioventricular block and 11% were diagnosed incidentally. Almost one third (35; 32%) were previously misdiagnosed. Conclusion: The clinical spectrum of ATTRwt is heterogeneous and differs from the classic phenotype: women are affected in a significant proportion; asymmetric LV hypertrophy and impaired LVEF are not rare and only a minority have low QRS voltages. Clinicians should be aware of the broad clinical spectrum of ATTRwt to correctly identify an entity for which a number of disease-modifying treatments are under investigation. ; pre-print ; 833 KB

العلاقة: http://hdl.handle.net/10641/1295Test

الإتاحة: http://hdl.handle.net/10641/1295Test