Review
Biochemistry & Molecular Biology
Elena Alonso-Villa, Fernando Bonet, Francisco Hernandez-Torres, Oscar Campuzano, Georgia Sarquella-Brugada, Maribel Quezada-Feijoo, Monica Ramos, Alipio Mangas, Rocio Toro
Summary: Dilated cardiomyopathy (DCM) is a clinical diagnosis characterized by ventricular dilation and systolic dysfunction, often leading to heart failure and death. DCM is the final phenotype of various factors such as ischemia, infection, autoimmunity, drugs, or genetic susceptibility. miRNAs play important roles in regulating mechanisms related to inflammation, ER stress, oxidative stress, mitochondrial dysfunction, autophagy, cardiomyocyte apoptosis, and fibrosis in the context of DCM.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
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.
Review
Medicine, General & Internal
Enrica Chiti, Marco Paolo, Emanuela Turillazzi, Anna Rocchi
Summary: MiRNAs are small non-coding RNAs involved in regulating biochemical pathways in the human body; their levels can be altered due to pathophysiological mechanisms, making them potential biomarkers for cardiac diseases and other pathological conditions. This review summarizes findings of miRNA biomarkers in the three most common structural cardiomyopathies.
Article
Oncology
Xiaolei Cheng, Dongdong Jian, Junyue Xing, Cihang Liu, Yong Liu, Cunying Cui, Zhen Li, Shixing Wang, Ran Li, Xiaohan Ma, Yingying Wang, Xiaoping Gu, Zhenwei Ge, Hao Tang, Lin Liu
Summary: This study discovered a group of circulating miRNAs associated with dilated cardiomyopathy (DCM) and identified their important role in regulating myocardial apoptosis and autophagy. These miRNAs could serve as non-invasive diagnostic biomarkers for DCM and provide new insights into the pathogenesis and therapeutic targets of DCM.
CLINICAL AND TRANSLATIONAL MEDICINE
(2023)
Review
Medicine, General & Internal
Jose F. Couto, Elisabete Martins
Summary: Cardiomyopathies can be hereditary and have a familial predilection. They can result in heart failure, sudden death, or arrhythmias. Genetic testing plays a crucial role in identifying individuals carrying mutations and regular follow-ups are essential for the management of these conditions.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Ruping Chen, Simone Buchmann, Amos Kroth, Anahi-Paula Arias-Loza, Michael Kohlhaas, Nicole Wagner, Gianna Gruener, Alexander Nickel, Alexandra Cirnu, Tatjana Williams, Christoph Maack, Sueleyman Erguen, Stefan Frantz, Brenda Gerull
Summary: This study discovered a new homozygous mutation (p.L13R) in the inner nuclear membrane protein LEMD2, which causes a form of arrhythmic cardiomyopathy characterized by endocardial fibrosis, left ventricular dilatation, and systolic dysfunction. The mutation impairs the repair capacity of nuclear envelope rupture, leading to increased DNA damage and premature senescence. This research identifies LEMD2 as a new player in laminopathies.
CIRCULATION RESEARCH
(2023)
Review
Cardiac & Cardiovascular Systems
Joyce N. Njoroge, Jennifer C. Mangena, Chiaka Aribeana, Victoria N. Parikh
Summary: This review highlights the importance of understanding genotype-phenotype relationships in inherited dilated cardiomyopathy (DCM) for improving patient care. Recent findings have led to the discovery of novel DCM-associated genes, gene-specific outcomes, and variant-environment interactions. These advances provide valuable insights in assessing the risk of sudden cardiac death and guiding counseling around behavioral and environmental exposures. Future research directions should focus on identifying new genes and investigating the interaction of known and novel variants with patient genetic background and environment.
CURRENT CARDIOLOGY REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
Thomas Zegkos, Theofilos Panagiotidis, Despoina Parcharidou, Georgios Efthimiadis
Summary: This article discusses the importance of phenotypic and genotypic analysis in dilated cardiomyopathy with arrhythmic burden, and emphasizes early preventive measures for sudden cardiac death, with special attention given to the overlap with left dominant arrhythmogenic cardiomyopathy.
HEART FAILURE REVIEWS
(2021)
Article
Biochemistry & Molecular Biology
Francesca Di Lorenzo, Enrica Marchionni, Valentina Ferradini, Andrea Latini, Laura Pezzoli, Annamaria Martino, Fabiana Romeo, Annamaria Iorio, Stefano Bianchi, Maria Iascone, Leonardo Calo, Giuseppe Novelli, Ruggiero Mango, Federica Sangiuolo
Summary: Variants in desmoplakin gene (DSP) are usually associated with arrhythmogenic cardiomyopathy (ACM) or dilated cardiomyopathy (DCM) inherited in an autosomal dominant manner. This study analyzed a cohort of 18 probands with heterozygous DSP variants and identified 16 pathogenic or likely pathogenic variants. Patients generally presented as asymptomatic or mildly symptomatic, and cardiac magnetic resonance imaging revealed left ventricular myocardial fibrosis. These findings confirm that DSP-related cardiomyopathy is a distinct clinical entity characterized by a high arrhythmic burden, variable degrees of left ventricular enlargement, and myocarditis-like episodes.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Biochemistry & Molecular Biology
Olga Grodzka, Grzegorz Procyk, Aleksandra Gasecka
Summary: Myocarditis is an inflammatory disease of the heart, often caused by viral infection. miRNAs, small non-coding RNA molecules, have been identified as potential diagnostic and prognostic biomarkers for myocarditis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Medicine, General & Internal
Denise Zaffalon, Efstathios Papatheodorou, Ahmed Merghani, Harshil Dhutia, Eleonora Moccia, Aneil Malhotra, Christopher J. Miles, Virginia Attard, Tessa Homfray, Rajan Sharma, Marta Gigli, Matteo Dal Ferro, Marco Merlo, Michael Papadakis, Gianfranco Sinagra, Sanjay Sharma, Gherardo Finocchiaro
Summary: This study investigated the role of electrocardiogram (ECG) in differentiating between physiological and pathological cardiac remodeling. The ECG was abnormal in a high percentage of patients with dilated cardiomyopathy (DCM), while it was usually normal in athletes with significant cardiac remodeling.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Cardiac & Cardiovascular Systems
Ravi J. J. Amin, Deborah Morris-Rosendahl, Mat Edwards, Upasana Tayal, Rachel Buchan, Daniel J. J. Hammersley, Richard E. E. Jones, Sabiha Gati, Zohya Khalique, Batool Almogheer, Dudley J. J. Pennell, Arun John Baksi, Antonis Pantazis, James S. S. Ware, Sanjay K. K. Prasad, Brian P. P. Halliday
Summary: This study examined the impact of genetic testing and cardiovascular magnetic resonance (CMR) on determining the etiology of dilated cardiomyopathy (DCM). The results showed that the addition of genetics and CMR resulted in changes in the classification of etiology, improved confidence and interobserver variability, and had an impact on proposed management.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Review
Medical Laboratory Technology
Mireia Alcalde, Rocio Toro, Fernando Bonet, Jose Cordoba-Caballero, Estefania Martinez-Barrios, Juan Antonio Ranea, Marta Vallverdu-Prats, Ramon Brugada, Viviana Meraviglia, Milena Bellin, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: Arrhythmogenic cardiomyopathy is a rare inherited disease characterized by fibro-fatty replacement of the myocardium, leading to malignant arrhythmias and a high risk of sudden cardiac death. Early identification of at-risk individuals is crucial to prevent lethal episodes. Genetic analysis can identify deleterious rare variants in genes encoding desmosome proteins, but other factors like microRNAs may also modulate disease onset and outcome. Understanding the role of microRNAs may have clinical implications as potential biomarkers in arrhythmogenic cardiomyopathy.
TRANSLATIONAL RESEARCH
(2023)
Article
Multidisciplinary Sciences
Sara Brethel, Seth Locker, Renee Girens, Paulo Rivera, Kathryn Meurs, Darcy Adin
Summary: The role of taurine in the treatment of congestive heart failure in dogs was explored in this study. Oral taurine supplementation was found to suppress the renin-angiotensin aldosterone system in dogs with CHF. The study showed that taurine increased blood taurine concentrations and decreased the aldosterone to angiotensin II ratio, indicating potential benefits in CHF treatment.
SCIENTIFIC REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Yuliang Feng, Liuyang Cai, Wanzi Hong, Chunxiang Zhang, Ning Tan, Mingyang Wang, Cheng Wang, Feng Liu, Xiaohong Wang, Jianyong Ma, Chen Gao, Mohit Kumar, Yuanxi Mo, Qingshan Geng, Changjun Luo, Yan Lin, Haiyang Chen, Shuang-Yin Wang, Michael J. Watson, Anil G. Jegga, Roger A. Pedersen, Ji-Dong Fu, Zhao Wang, Guo-Chang Fan, Sakthivel Sadayappan, Yigang Wang, Siim Pauklin, Feng Huang, Wei Huang, Lei Jiang
Summary: This study investigates the role of 3-dimensional chromatin topology in dilated cardiomyopathy (DCM) by analyzing the epigenome and transcriptome maps of DCM and nonfailing heart tissues. The research reveals that the reprogramming of chromatin topology is associated with transcriptional dysregulation in DCM, with the key transcription factor HAND1 implicated in the process. The findings provide insights into the pathogenesis of DCM and highlight the importance of chromatin organization in heart failure.
Review
Medical Laboratory Technology
Paivi Lakkisto, Louise Torp Dalgaard, Thalia Belmonte, Sara-Joan Pinto-Sietsma, Yvan Devaux, David De Gonzalo-Calvo
Summary: The implementation of cell-free microRNAs as biomarkers is limited due to lack of reproducibility. Technical variability and analytical caveats make the interpretation of miRNA data challenging. Standardization efforts and consideration of specific aspects in sample handling and data analysis are important for reproducibility. Providing a checklist can facilitate the control of miRNA quantification and analysis.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2023)
Article
Medicine, Legal
Estefania Martinez-Barrios, Georgia Sarquella-Brugada, Alexandra Perez-Serra, Anna Fernandez-Falgueras, Sergi Cesar, Mireia Alcalde, Monica Coll, Marta Puigmule, Anna Iglesias, Carles Ferrer-Costa, Bernat del Olmo, Ferran Pico, Laura Lopez, Victoria Fiol, Jose Cruzalegui, Clara Hernandez, Elena Arbelo, Nuria Diez-Escute, Patricia Cerralbo, Simone Grassi, Antonio Oliva, Rocio Toro, Josep Brugada, Ramon Brugada, Oscar Campuzano
Summary: In cases where the cause of sudden death in young people is uncertain, genetic cardiac arrhythmia is considered as a possible cause. Molecular autopsy can identify genetic defects in up to 20% of families. However, the majority of rare genetic variants are classified with unclear roles, hindering their clinical application.
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
(2023)
Article
Environmental Sciences
Juan Corral-Perez, Martin Alcala, Daniel Velazquez-Diaz, Alejandro Perez-Bey, Maria A. Vazquez-Sanchez, Maria Calderon-Dominguez, Cristina Casals, Jesus G. Ponce-Gonzalez
Summary: This study aims to analyze the associations between physical activity and sedentary behavior with oxidative stress and inflammatory markers in a young adult population, with sex-specific differences observed. The findings suggest that women have better redox and inflammatory status compared to men, while oxidative stress markers are only associated with physical activity and sedentary behaviors in men.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2023)
Article
Nutrition & Dietetics
Adrian Montes-de-Oca-Garcia, Alejandro Perez-Bey, Juan Corral-Perez, Alberto Marin-Galindo, Maria Calderon-Dominguez, Daniel Velazquez-Diaz, Cristina Casals, Jesus G. G. Ponce-Gonzalez
Summary: This cross-sectional study aimed to investigate the effects of plasma leptin on fat oxidation in young adults, considering sex differences and the mediating role of fatness and cardiorespiratory fitness. Results showed that in men, leptin was negatively associated with maximal fat oxidation and positively associated with insulin secretion. In women, leptin was positively associated with resting fat oxidation and insulin sensitivity, and negatively associated with maximal fat oxidation. The association between leptin and fat oxidation was mediated by cardiorespiratory fitness.
Article
Genetics & Heredity
Sergi Cesar, Monica Coll, Victoria Fiol, Anna Fernandez-Falgueras, Jose Cruzalegui, Anna Iglesias, Isaac Moll, Alexandra Perez-Serra, Estefania Martinez-Barrios, Carles Ferrer-Costa, Bernat del Olmo, Marta Puigmule, Mireia Alcalde, Laura Lopez, Ferran Pico, Ruben Berrueco, Josep Brugada, Irene Zschaeck, Daniel Natera-de Benito, Laura Carrera-Garcia, Jessica Exposito-Escudero, Carlos Ortez, Andres Nascimento, Ramon Brugada, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: This study investigates the variability in laminopathy phenotypes by analyzing targeted genetic variants in patients diagnosed with LMNA-related muscular dystrophy. Additionally, rare variants in other genes were identified, suggesting their potential association with disease progression. The findings highlight the importance of personalized clinical assessments and genotype-phenotype correlation in identifying rare variants and understanding disease severity.
FRONTIERS IN GENETICS
(2023)
Article
Medicine, General & Internal
Monica Ramos, Maribel Quezada-Feijoo, Rocio Ayala, Ascension Manzano, Francisco Javier Gomez-Pavon, Javier Jaramillo, Cristina Herrera, Mariola Lopez Vazquez de la Torre, Rocio Toro
Summary: Recognizing symptoms in elderly patients with severe aortic stenosis (AS) can be challenging. This study tested the usefulness of NT-proBNP and Galectin-3 in predicting events in asymptomatic patients with severe AS. The results showed that NT-proBNP was the most reliable predictor of events, and a combination of NT-proBNP and Galectin-3 levels may be vital in the clinical follow-up and decision-making process for these patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Sergi Cesar, Oscar Campuzano, Jose Cruzalegui, Victori Fiol, Isaac Moll, Estefania Martinez-Barrios, Irene Zschaeck, Daniel Natera-de Benito, Carlos Ortez, Laura Carrera, Jessica Exposito, Ruben Berrueco, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gomez Garcia-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Andres Nascimento, Georgia Sarquella-Brugada
Summary: LMNA-related muscular dystrophy is a rare condition that can lead to various laminopathies such as Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD). It is associated with heart failure, malignant arrhythmias, and sudden death. This study aimed to comprehensively evaluate the cardiac status of pediatric patients with LMNA-related muscular dystrophy. The results showed that 20% of the patients had malignant arrhythmias, and early-onset EDMD was associated with worse cardiac prognosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Diego Valor, Antonio Montes, Maria Calderon-Dominguez, Inass Aghziel, Ismael Sanchez-Gomar, Martin Alcala, Ma Carmen Duran-Ruiz, Clara Pereyra
Summary: Submicron particles were produced from an ethanolic extract of Myrtus communnis leaves using supercritical carbon dioxide technology. The particles had small sizes, quasi-spherical shape, and high antioxidant activity. It was also observed that increasing pressure and temperature resulted in smaller particle sizes.
Review
Medicine, General & Internal
Estefania Martinez-Barrios, Simone Grassi, Maria Brion, Rocio Toro, Sergi Cesar, Jose Cruzalegui, Monica Coll, Mireia Alcalde, Ramon Brugada, Andrea Greco, Maria Luisa Ortega-Sanchez, Eneko Barberia, Antonio Oliva, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: In the field of forensic medicine, molecular autopsy is a genetic analysis performed after a comprehensive forensic autopsy to uncover the cause of death in cases that remain unexplained. This typically occurs in young individuals and is suspected to originate from an underlying inherited arrhythmogenic syndrome. Next-generation sequencing can identify potentially pathogenic rare genetic variants in up to 25% of sudden death cases in young individuals. Early identification of these pathogenic genetic alterations can help prevent malignant arrhythmias and sudden death in at-risk relatives. However, there are challenges in interpreting and translating genetic findings into clinical practice.
FRONTIERS IN MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Nuria Diez-Escute, Elena Arbelo, Estefania Martinez-Barrios, Patricia Cerralbo, Sergi Cesar, Jose Cruzalegui, Freddy Chipa, Victoria Fiol, Irene Zschaeck, Clara Hernandez, Oscar Campuzano, Georgia Sarquella-Brugada
Summary: Long QT Syndrome (LQTS) is a rare inherited channelopathy characterized by cardiac repolarization dysfunction, leading to a prolonged QT interval and increased risk of malignant ventricular tachyarrhythmias in patients. The diagnosis of LQTS is challenging due to its complex genetic origin and variable expressivity. Recent advancements in diagnostic and personalized treatment options have improved patient care, but risk stratification remains a major challenge. Sex has been identified as a risk factor for arrhythmias, particularly in females, yet there is a lack of sex-related data in available publications. Therefore, this review provides important updates on LQTS in women.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Pietro Francia, Daniel Viveros, Giulio Falasconi, David Soto-Iglesias, Juan Fernandez-Armenta, Diego Penela, Antonio Berruezo
Article
Medicine, General & Internal
Mario Henriquez-Beltran, Ivan Benitez, Thalia Belmonte, Jorge Jorquera, Jorge Jorquera-Diaz, Igor Cigarroa, Matias Burgos, Rocio Sanhueza, Claudia Jeria, Isabel Fernandez-Bussy, Estefania Nova-Lamperti, Ferran Barbe, Adriano Targa, Gonzalo Labarca
Summary: This study evaluates the impact of ARDS on sleep and circadian rest-activity rhythm of COVID-19 survivors twelve months after hospital discharge. The findings show that the majority of survivors had poor sleep quality and a high prevalence of sleep disorders after twelve months. However, there was no significant improvement in sleep or circadian rest-activity rhythm between four and twelve months, or between the ARDS and non-ARDS groups.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
Marina Pons-Espinal, Jordi Clotet-Caba, Sergi Cesar-Diaz, Delia Yubero-Siles
Summary: This article reports two clinical cases of XLMTM with severe sinus bradycardia or auriculoventricular block from the first days of life. Pathologic 24-hours Holter monitoring was observed in both cases. Primary cardiac involvement was excluded by electrophysiological studies and normal heart rate was restored with proper respiratory support. This highlights a new aspect in the differential diagnosis of congenital myopathies.
REVISTA DE NEUROLOGIA
(2023)
Article
Respiratory System
David de Gonzalo-Calvo, Marta Molinero, Ivan D. Benitez, Manel Perez-Pons, Nadia Garcia-Mateo, Alicia Ortega, Tamara Postigo, Maria C. Garcia-Hidalgo, Thalia Belmonte, Carlos Rodriguez-Munoz, Jessica Gonzalez, Gerard Torres, Clara Gort-Paniello, Anna Moncusi-Moix, Angel Estella, Luis Tamayo Lomas, Amalia Martinez de la Gandara, Lorenzo Socias, Yhivian Penasco, Maria Del Carmen de la Torre, Elena Bustamante-Munguira, Elena Gallego Curto, Ignacio Martinez Varela, Maria Cruz Martin Delgado, Pablo Vidal-Cortes, Juan Lopez Messa, Felipe Perez-Garcia, Jesus Caballero, Jose M. Anon, Ana Loza-Vazquez, Nieves Carbonell, Judith Marin-Corral, Ruth Noemi Jorge Garcia, Carmen Barbera, Adrian Ceccato, Laia Fernandez-Barat, Ricard Ferrer, Dario Garcia-Gasulla, Jose Angel Lorente-Balanza, Rosario Menendez, Ana Motos, Oscar Penuelas, Jordi Riera, Jesus F. Bermejo-Martin, Antoni Torres, Ferran Barbe
Summary: This study validated certain microRNAs as potential biomarkers for clinical decision-making in critically ill patients and developed a blood microRNA classifier for the early prediction of adverse outcomes in the ICU.
RESPIRATORY RESEARCH
(2023)