Article
Medicine, Research & Experimental
Hong Lian, Shen Song, Wenzheng Chen, Anteng Shi, Haobin Jiang, Shengshou Hu
Summary: This study aimed to characterize the genetic basis of dilated cardiomyopathy (DCM) in heart transplantation (HTx) patients in the Chinese population. The results showed that TTN and FLNC genes harbored a significant number of pathogenic and likely pathogenic variants, and FLNC truncation could lead to severe clinical symptoms in DCM patients.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Yi-Han Chang, Pei Lin, Jia-Ling Lin, Hsin-Yu Huang, Chao-Kai Hsu, Chih-Hsin Hsu
Summary: Approximately one-third of cases of dilated cardiomyopathy are familial, and a novel desmoplakin mutation was found in two individuals of a Taiwanese family. The patient recovered well after heart transplantation and medical control, while her son underwent different treatment.
FRONTIERS IN GENETICS
(2022)
Review
Cardiac & Cardiovascular Systems
Upasana Tayal, James S. Ware, Neal K. Lakdawala, Stephane Heymans, Sanjay K. Prasad
Summary: This review provides a practical primer for clinicians on the genetic basis of dilated cardiomyopathy, including the clinical relevance, key genetic concepts, which patients may benefit from genetic testing, common genetic tests performed, how to interpret genetic results, and the clinical applications. Areas for future research in this dynamic field are also discussed.
EUROPEAN HEART JOURNAL
(2021)
Review
Cardiac & Cardiovascular Systems
Upasana Tayal, James S. Ware, Neal K. Lakdawala, Stephane Heymans, Sanjay K. Prasad
Summary: This review provides a practical primer for clinicians on the genetic basis of dilated cardiomyopathy, introducing key concepts, explaining genetic testing, interpretation of results, and clinical applications, as well as highlighting areas for future research in this field.
EUROPEAN HEART JOURNAL
(2021)
Article
Medicine, General & Internal
Huiyan Luan, Lei Zhang, Sijin Zhang, Meng Zhang
Summary: This case report presents a Chinese girl diagnosed with familial hemiplegic migraine type 1 through genetic and clinical assessment. Prophylactic therapy with flunarizine did not show improvement in the intensity of attacks in this patient.
Article
Cardiac & Cardiovascular Systems
Laurens F. Reeskamp, Tycho R. Tromp, Joep C. Defesche, Aldo Grefhorst, Erik S. G. Stroes, G. Kees Hovingh, Linda Zuurbier
Summary: In the Netherlands, 14.9% of suspected familial hypercholesterolemia patients were found to have a pathogenic variant in LDLR, APOB or PCSK9, and this rate has decreased over the past two decades. The use of stringent clinical criteria algorithms is recommended to increase the yield of genetic testing. Variants in minor familial hypercholesterolemia genes may explain the phenotype in a small percentage of patients.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger
Summary: A systematic curation of 51 genes related to DCM revealed that 19 genes have high evidence (12 definitive/strong, 7 moderate), but these genes only explain a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed.
Article
Medicine, Research & Experimental
Mingmin Li, Shuang Xia, Lan Xu, Hong Tan, Junqing Yang, Zejia Wu, Xuyu He, Liwen Li
Summary: Using targeted next-generation sequencing, potential genetic causes of idiopathic DCM were identified. Sarcomere mutations remained the most common genetic cause of inherited DCM in this cohort of sporadic Chinese DCM.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Medicine, General & Internal
Xin-Ru Zhang, Hang Ren, Fang Yao, Yang Liu, Chun-Li Song
Summary: In this study, a potentially pathogenic gene mutation, ANK2p.F3067L, was identified in a pedigree analysis of dilated cardiomyopathy (DCM).
WORLD JOURNAL OF CLINICAL CASES
(2023)
Article
Genetics & Heredity
Karolina Melinyte-Ankudavice, Marius Sukys, Jurgita Plisiene, Renaldas Jurkevicius, Egle Ereminiene
Summary: A case report of a 22-year-old male patient who visited a cardiologist after experiencing his first episode of atrial fibrillation (AF) is presented. The patient was found to have decreased left ventricular systolic function and dilation. Genetic testing revealed a pathogenic variant of the BAG3 gene. Due to the high risk of heart failure progression and ventricular arrhythmias, the patient received an event recorder implant and pathogenetic heart failure treatment. His father was also diagnosed with dilated cardiomyopathy and recurrent AF.
Article
Medical Laboratory Technology
Qi Qiao, Cui-Mei Zhao, Chen-Xi Yang, Jia-Ning Gu, Yu-Han Guo, Min Zhang, Ruo-Gu Li, Xing-Biao Qiu, Ying-Jia Xu, Yi-Qing Yang
Summary: The study revealed an association between a loss-of-function variant in the MEF2A gene and DCM. This finding provides new insights into the molecular mechanisms of DCM and suggests potential implications for genetic testing and prognostic evaluation of DCM patients.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2021)
Article
Genetics & Heredity
Yolanda Rico, Maria Francisca Ramis, Montse Massot, Laura Torres-Juan, Jaume Pons, Elena Fortuny, Tomas Ripoll-Vera, Rosa Gonzalez, Vicente Peral, Xavier Rossello, Damia Heine Suner
Summary: DCM has a high morbidity and mortality rate, with up to 35% of cases showing familial transmission. A 64-year-old woman with DCM survived sudden cardiac arrest and genetic testing revealed a previously undescribed mutation that was found to segregate within her family, suggesting it as the likely cause of the disease. This is the first reported association of a variant in the N-terminal domain of SCN5A with DCM.
Article
Cardiac & Cardiovascular Systems
Yu-Han Guo, Jun Wang, Xiao-Juan Guo, Ri-Feng Gao, Chen-Xi Yang, Li Li, Yu-Min Sun, Xing-Biao Qiu, Ying-Jia Xu, Yi-Qing Yang
Summary: This study identified a new gene locus for DCM and identified three mutations associated with DCM. The findings provide novel insights into the molecular pathogenesis of DCM and have potential implications for prenatal prevention and precision treatment in a subset of patients.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro-Penalver, Annette Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Mendez, Rebeca Lorca, Job A. J. Verdonschot, Pablo Elpidio Garcia-Granja, Zofia Bilinska, Diane Fatkin, M. Eugenia Fuentes-Canamero, Jose M. Garcia-Pinilla, Maria I. Garcia-Alvarez, Francesca Girolami, Roberto Barriales-Villa, Carles Diez-Lopez, Luis R. Lopes, Karim Wahbi, Ana Garcia-Alvarez, Ibon Rodriguez-Sanchez, Javier Rekondo-Olaetxea, Jose F. Rodriguez-Palomares, Maria Gallego-Delgado, Benjamin Meder, Milos Kubanek, Frederikke G. Hansen, Maria Alejandra Restrepo-Cordoba, Julian Palomino-Doza, Luis Ruiz-Guerrero, Georgia Sarquella-Brugada, Alberto Jose Perez-Perez, Francisco Jose Bermudez-Jimenez, Tomas Ripoll-Vera, Torsten Bloch Rasmussen, Mark Jansen, Maria Sabater-Molina, Perry M. Elliot, Pablo Garcia-Pavia
Summary: MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to end-stage heart failure (ESHF). Heart failure complications predominate over ventricular arrhythmias, which are rare.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Luis Escobar-Lopez, Juan Pablo Ochoa, Jesus G. Mirelis, Maria Angeles Espinosa, Marina Navarro, Maria Gallego-Delgado, Roberto Barriales-Villa, Ainhoa Robles-Mezcua, Maria Teresa Basurte-Elorz, Laura Gutierrez Garcia-Moreno, Vicente Climent, Juan Jimenez-Jaimez, Maria Victoria Mogollon-Jimenez, Javier Lopez, Maria Luisa Pena-Pena, Ana Garcia-Alvarez, Maria Brion, Tomas Ripoll-Vera, Julian Palomino-Doza, Coloma Tiron, Uxua Idiazabal, Maria Noel Brogger, Soledad Garcia-Hernandez, Maria Alejandra Restrepo-Cordoba, Esther Gonzalez-Lopez, Irene Mendez, Maria Sabater, Eduardo Villacorta, Jose M. Larranaga-Moreira, Ana Abecia, Ana Isabel Fernandez, Jose M. Garcia-Pinilla, Jose F. Rodriguez-Palomares, Juan Ramon Gimeno-Blanes, Antoni Bayes-Genis, Enrique Lara-Pezzi, Fernando Dominguez, Pablo Garcia-Pavia
Summary: This study found that DCM patients with pathogenic or likely pathogenic variants had worse prognosis than genotype-negative individuals. Clinical outcomes varied depending on the underlying affected gene, and individuals with baseline left ventricular ejection fraction ≤35% who had pathogenic variants were more likely to experience major adverse cardiovascular events, ESHF, and MVA compared to genotype-negative patients.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Hospitality, Leisure, Sport & Tourism
Ingeborg Nordbo, Reidar J. Mykletun, Javier Segovia, Monica Segovia-Perez
Summary: This study analyzes the motivations of volunteer tourists in the WWOOF network, finding that the primary motivations include immigration, escapism, genuine interest in Norway, sustainable lifestyle, cheap travel, constraints, and image display. Pull motivations are stronger, with self-interest motivations outweighing altruistic motivations.
CURRENT ISSUES IN TOURISM
(2023)
Article
Geriatrics & Gerontology
Miriam Diez-Diez, Marta Amoros-Perez, Jorge de la Barrera, Enrique Vazquez, Ana Quintas, Domingo A. Pascual-Figal, Ana Dopazo, Fatima Sanchez-Cabo, Monica E. Kleinman, Leslie B. Gordon, Valentin Fuster, Vicente Andres, Jose J. Fuster
Summary: Clonal hematopoiesis of indeterminate potential (CHIP), the presence of somatic mutations in cancer-related genes in blood cells without hematological cancer, is an important risk factor for age-related conditions, especially cardiovascular disease. It is unknown whether CHIP plays a role in premature aging syndromes. Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare genetic condition characterized by accelerated aging. This study investigated the prevalence of CHIP in HGPS patients and found that it is not frequent in HGPS, suggesting that it is unlikely to contribute to the pathophysiology of this accelerated aging syndrome.
Article
Cardiac & Cardiovascular Systems
Hannah Copeland, Ivan Knezevic, David A. Baran, Vivek Rao, Michael Pham, Finn Gustafsson, Sean Pinney, Brian Lima, Marco Masetti, Agnieszka Ciarka, Navin Rajagopalan, Adriana Torres, Eileen Hsich, Jignesh K. Patel, Livia Adams Goldraich, Monica Colvin, Javier Segovia, Heather Ross, Mahazarin Ginwalla, Babak Sharif-Kashani, MaryJane A. Farr, Luciano Potena, Jon Kobashigawa, Maria G. Crespo-Leiro, Natasha Altman, Florian Wagner, Jennifer Cook, Valentina Stosor, Paolo A. Grossi, Kiran Khush, Tahir Yagdi, Susan Restaino, Steven Tsui, Daniel Absi, George Sokos, Andreas Zuckermann, Brian Wayda, Joost Felius, Shelley A. Hall
Summary: The proposed guidelines for donor heart selection are evidence-based and expert-consensus recommendations that were compiled by an international panel of experts after an extensive literature review.
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2023)
Article
Cardiac & Cardiovascular Systems
Klaus K. Witte, Rolf Wachter, Michele Senni, Jan Belohlavek, Ewa Straburzynska-Migaj, Candida Fonseca, Eva Lonn, Adele Noe, Heike Schwende, Dmytro Butylin, YannTong Chiang, Domingo Pascual-Figal
Summary: The tolerability and dose up-titration patterns of sacubitril/valsartan in patients with heart failure with reduced ejection fraction (HFrEF) were comparable between patients with and without diabetes.
Review
Cardiac & Cardiovascular Systems
Adrian Bayonas-Ruiz, Francisca Maria Munoz-Franco, Maria Sabater-Molina, Maria Jose Oliva-Sandoval, Juan R. Gimeno, Barbara Bonacasa
Summary: The aim of this study was to analyze the effects of current therapies on hypertrophic cardiomyopathy. Pharmacological agents had no effect on functional capacity, while invasive therapies increased functional capacity, improved symptoms, and reduced obstruction levels. Physical exercise was found to be a safe and beneficial coadjuvant therapy for improving functional capacity. Pharmacological agents improved symptoms but did not enhance functional capacity.
Article
Cardiac & Cardiovascular Systems
Ana Garcia-Alvarez, Isabel Blanco, Ines Garcia-Lunar, Paloma J. Jorda, Juan Rodriguez-Arias, Leticia Fernandez-Friera, Isabel Zegri, Jorge Nuche, Manuel Gomez-Bueno, Susanna Prat, Sandra Pujadas, Eduard D. Sole-Gonzalez, Maria Garcia-Cossio, Mercedes Rivas, Estefania Torrecilla, Daniel Pereda, Javier Sanchez, Pablo Garcia-Pavia, Javier Segovia-Cubero, Juan F. Delgado, Sonia Mirabet, Valentin A. Fuster, Joan Barbera, Borja Ibanez
Summary: This study aimed to evaluate the efficacy of the selective beta 3 adrenoreceptor agonist mirabegron in patients with combined pre- and post-capillary pulmonary hypertension (CpcPH). The results showed that mirabegron treatment did not reduce pulmonary vascular resistance in CpcPH patients, but significantly improved right ventricular ejection fraction.
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Article
Cardiac & Cardiovascular Systems
Phil McEwan, Cale Harrison, Rhona Binnie, Ruth D. Lewis, Alain Cohen-Solal, Lars H. Lund, Marcus Ohlsson, Stephan von Haehling, Josep Comin-Colet, Domingo A. Pascual-Figal, Sandra Wachter, Fabio Dorigotti, Antonio Ramirez de Arellano, Piotr Ponikowski, Ewa A. Jankowska
Summary: The study assessed the burden of disease and pharmacoeconomic implications of treating iron deficiency in patients with acute heart failure. The findings indicate that treatment with FCM can reduce hospitalizations and bed days, leading to savings in healthcare resources and improvement in quality of life for heart failure patients.
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Antoni Bayes-Genis, Domingo Pascual-Figal
EUROPEAN HEART JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Domingo Pascual-Figal, J. Luis Zamorano, Mar Domingo, Herminio Morillas, Julio Nunez, Marta Cobo Marcos, Alejandro Riquelme-Perez, Albert Teis, Enrique Santas, Cesar Caro-Martinez, Jose Manuel Pinilla, Jose F. Rodriguez-Palomares, David Dobarro, M. Alejandra Restrepo-Cordoba, J. Ramon Gonzalez-Juanatey, Antoni Bayes Genis
Summary: The DAPA-MODA trial showed that dapagliflozin administration in stable chronic heart failure patients leads to global reverse remodelling of cardiac structure, including reductions in left atrial volume index, improvement in left ventricular geometry, and decreased concentrations of NT-proBNP.
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Article
Medicine, General & Internal
Lourdes Vicent, Jesus Alvarez-Garcia, Rafael Vazquez-Garcia, Jose R. Gonzalez-Juanatey, Miguel Rivera, Javier Segovia, Domingo Pascual-Figal, Ramon Bover, Fernando Worner, Francisco Fernandez-Aviles, Albert Ariza-Sole, Manuel Martinez-Selles
Summary: The aim of this study was to determine the prognostic impact of coronary artery disease (CAD) on heart failure with reduced ejection fraction (HFrEF) mortality and readmissions. A total of 583 patients with left ventricular ejection fraction <40% were included in the study, among which 266 had CAD and 137 had idiopathic dilated cardiomyopathy (DCM). The study found that one-year mortality and readmissions were similar between patients with CAD and idiopathic DCM, but patients with idiopathic DCM were more likely to receive a heart transplant.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Manuel Barreiro-Perez, Pablo Pastor Pueyo, Sergio Raposeiras-Roubin, Dolores Montero Corominas, Aitor Uribarri, Rocio Eiros Bachiller, Jose Rozado Castano, Luisa Garcia-Cuenllas Alvarez, Luis Serratosa Fernandez, Fernando Dominguez, Domingo Pascual Figal
Summary: This document, drafted by the Myocarditis Working Group of the Heart Failure Association of the Spanish Society of Cardiology in collaboration with the Spanish Agency for Medicines and Health Products (AEMPS), aims to summarize the knowledge acquired since the start of the SARS-CoV-2 pandemic regarding the diagnosis and treatment of myocarditis associated with SARS-CoV-2 infection or messenger RNA vaccine administration.
REVISTA ESPANOLA DE CARDIOLOGIA
(2023)
Article
Cardiac & Cardiovascular Systems
Manuel Veas Porlan, Antonio Tello-Montoliu, Cecilia Lopez-Garcia, Pablo Gil-Perez, Miriam Quintana-Giner, Raquel Lopez-Galvez, Jose Miguel Rivera-Caravaca, Francisco Marin, Domingo Pascual Figal
Summary: This study aimed to investigate the impact of chronic renal failure on the pharmacokinetics and pharmacodynamics of ticagrelor. It was found that patients with renal impairment showed higher levels of ticagrelor after 4 and 6 hours of use, but there were no significant differences in platelet inhibition.
IJC HEART & VASCULATURE
(2023)
Article
Cardiac & Cardiovascular Systems
Elena Arbelo, Alexandros Protonotarios, Juan R. Gimeno, Eloisa Arbustini, Roberto Barriales-Villa, Cristina Basso, Connie R. Bezzina, Elena Biagini, Nico A. Blom, Rudolf A. de Boer, Tim De Winter, Perry M. Elliott, Marcus Flather, Pablo Garcia-Pavia, Kristina H. Haugaa, Jodie Ingles, Ruxandra Oana Jurcut, Sabine Klaassen, Giuseppe Limongelli, Bart Loeys, Jens Mogensen, Iacopo Olivotto, Antonis Pantazis, Sanjay Sharma, J. Peter Van Tintelen, James S. Ware, Juan Pablo Kaski
EUROPEAN HEART JOURNAL
(2023)
Editorial Material
Cardiac & Cardiovascular Systems
Domingo Pascual-Figal, Jose Javier Fuster, Antoni Bayes-Genis
EUROPEAN JOURNAL OF HEART FAILURE
(2023)
Correction
Oncology
Dolores Isla, Maria D. Lozano, Luis Paz-Ares, Clara Salas, Javier de Castro, Esther Conde, Enriqueta Felip, Javier Gomez-Roman, Pilar Garrido, Ana Belen Enguita
CLINICAL & TRANSLATIONAL ONCOLOGY
(2023)