Article
Medicine, General & Internal
Nadine Molitor, Firat Duru
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease characterized by fibro-fatty replacement of the right ventricle, which can lead to ventricular tachyarrhythmias and sudden cardiac death. Diagnosis is challenging due to its variable expressivity, incomplete penetrance, and lack of specific diagnostic criteria. Other cardiac diseases may mimic the clinical phenotypes of ARVC, leading to misdiagnosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Paloma Jorda, Laurens P. Bosman, Alessio Gasperetti, Andrea Mazzanti, Jean-Baptiste Gourraud, Brianna Davies, Tanja Charlotte Frederiksen, Zoraida Moreno Weidmann, Andrea Di Marco, Jason D. Roberts, Ciorsti MacIntyre, Colette Seifer, Antoine Deliniere, Wael Alqarawi, Deni Kukavica, Damien Minois, Alessandro Trancuccio, Marine Arnaud, Mattia Targetti, Annamaria Martino, Giada Oliviero, Daniel C. Pipilas, Corrado Carbucicchio, Paolo Compagnucci, Antonio Dello Russo, Iacopo Olivotto, Leonardo Calo, Steven A. Lubitz, Michael J. Cutler, Philippe Chevalier, Elena Arbelo, Silvia Giuliana Priori, Jeffrey S. Healey, Hugh Calkins, Michela Casella, Henrik Kjaerulf Jensen, Claudio Tondo, Rafik Tadros, Cynthia A. James, Andrew D. Krahn, Julia Cadrin-Tourigny
Summary: This study validated a 5-year risk prediction model for ARVC patients, demonstrating its superior performance in guiding ICD implantation decisions compared to other published guidelines and consensus statements. The findings support the use of this model for shared decision making in the primary prevention of SCD in ARVC patients.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Julia Cadrin-Tourigny, Laurens P. Bosman, Anna Nozza, Weijia Wang, Rafik Tadros, Aditya Bhonsale, Mimount Bourfiss, Annik Fortier, Oyvind H. Lie, Ardan M. Saguner, Anneli Svensson, Antoine Andorin, Crystal Tichnell, Brittney Murray, Katja Zeppenfeld, Maarten P. van den Berg, Folkert W. Asselbergs, Arthur A. M. Wilde, Andrew D. Krahn, Mario Talajic, Lena Rivard, Stephen Chelko, Stefan L. Zimmerman, Ihab R. Kamel, Jane E. Crosson, Daniel P. Judge, Sing-Chien Yap, Jeroen F. van der Heijden, Harikrishna Tandri, Jan D. H. Jongbloed, Marie-Claude Guertin, J. Peter van Tintelen, Pyotr G. Platonov, Firat Duru, Kristina H. Haugaa, Paul Khairy, Richard N. W. Hauer, Hugh Calkins, Anneline S. J. M. te Riele, Cynthia A. James
Summary: We developed a prediction model for incident VA/SCD in ARVC patients using readily available clinical parameters, which accurately distinguished patients with and without events and showed superior clinical benefit compared to current ICD placement algorithms.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Marit Kristine Smedsrud, Monica Chivulescu, Marianne Inngjerdingen Forsa, Isotta Castrini, Eivind Westrum Aabel, Christine Rootwelt-Norberg, Martin Proven Bogsrud, Thor Edvardsen, Nina Eide Hasselberg, Andreas Fruh, Kristina Hermann Haugaa
Summary: The study aimed to investigate the incidence of severe cardiac events in paediatric arrhythmogenic right ventricular cardiomyopathy (ARVC) patients and the ARVC penetrance in paediatric relatives. The results showed a high incidence of severe cardiac events in paediatric ARVC cohort, with half occurring in children aged 12 or below. Additionally, the ARVC penetrance in genotype positive paediatric relatives was 18%.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Alessio Gasperetti, Chiara Cappelletto, Richard Carrick, Mattia Targetti, Crystal Tichnell, Annamaria Martino, Brittney Murray, Paolo Compagnucci, Davide Stolfo, Jasmine Bisson, Nisha Gilotra, Corrado Carbucicchio, Iacopo Olivotto, Harikrishna Tandri, Antonio Dello Russo, Julia Cadrin-Tourigny, Leonardo Calo, Claudio Tondo, Gianfranco Sinagra, Cynthia A. James, Michela Casella, Hugh Calkins
Summary: This study found that changes in parameters derived from each Holter examination during follow-up are associated with the risk of sustained ventricular arrhythmias within 12 months of disease diagnosis in patients with ARVC.
Article
Emergency Medicine
Leen Alblaihed, Christine Kositz, William J. Brady, Tareq Al -Salamah, Amal Mattu
Summary: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder of the myocardium that can cause ventricular arrhythmia and sudden cardiac death. Early recognition of the disease by emergency clinicians is crucial to prevent subsequent death, as it is a significant cause of arrhythmic death among young people and athletes. This publication reviews the pathophysiology, classification, clinical presentations, and appropriate approach to diagnosis and management of ARVC.
AMERICAN JOURNAL OF EMERGENCY MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Alex Horby Christensen, Pyotr G. Platonov, Anneli Svensson, Henrik K. Jensen, Christine Rootwelt-Norberg, Pia Dahlberg, Trine Madsen, Tanja Charlotte Frederiksen, Tiina Helio, Kristina H. Haugaa, Henning Bundgaard, Jesper H. Svendsen
Summary: This study describes the complications associated with implantable cardioverter-defibrillators (ICD) treatment in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). The results show that during long-term follow-up, approximately 41% of patients experienced potentially life-saving ICD therapy, while 27% had complications requiring surgery, mainly lead-related complications.
Article
Medicine, Research & Experimental
Yan Liang, Robert C. Lyon, Jason Pellman, William H. Bradford, Stephan Lange, Julius Bogomolovas, Nancy D. Dalton, Yusu Gu, Marcus Bobar, Mong-Hong Lee, Tomoo Iwakuma, Vishal Nigam, Angeliki Asimaki, Melvin Scheinman, Kirk L. Peterson, Farah Sheikh
Summary: A recently discovered COP9 desmosomal resident protein complex, consisting of subunit 6 of the COP9 signalosome (CSN6), was found to enzymatically restrict neddylation and target desmosomal proteome degradation, ultimately playing a crucial role in preventing diseases such as ARVD/C.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Medicine, Research & Experimental
Jie Ren, Konstantinos Tsilafakis, Liang Chen, Konstantinos Lekkos, Ioanna Kostavasili, Aimilia Varela, Dennis Cokkinos, Constantinos H. Davos, Xiaogang Sun, Jiangping Song, Manolis Mavroidis
Summary: The study found activation of the complement system in the myocardium of ARVC patients, with autoantibodies against myocardial proteins possibly contributing to this mechanism. Crosstalk between the complement and coagulation systems exacerbated myocardial injury in ARVC mice, which was reduced by using the thrombin inhibitor lepirudin. Patients showed significantly elevated plasma levels of sC5b9 and thrombin, which were correlated with all-cause mortality.
Article
Cardiac & Cardiovascular Systems
Sara Hosseini, Ladina Erhart, Shehab Anwer, Pascal S. Heiniger, Neria E. Winkler, Tolga Cimen, Nazar Kuzo, Refael Hess, Deniz Akdis, Sarah Costa, Alessio Gasperetti, Corinna Brunckhorst, Firat Duru, Ardan M. Saguner, Felix C. Tanner
Summary: The study shows that tissue Doppler imaging (TDI) provides information on the ARVC phenotype, is associated with adverse events in ARVC patients, and can differentiate between patients with and without adverse events.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Davide Colombo, Annalisa Turco, Sara Lomi, Adele Valentini, Emilio Bassi, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Michela Zacchino, Mauro Acquaro, Federico Oliveri, Lorenzo Preda, Stefano Ghio
Summary: This study aimed to differentiate ACM-LV from pIM based on the characteristics of cardiac magnetic resonance imaging. The study found that compared to pIM patients, ACM-LV patients had larger left ventricular volumes, more frequent regional wall motion anomalies, and reduced wall thickness. ACM-LV patients, especially those with left dominant arrhythmogenic cardiomyopathy, had a higher amount of left ventricular late gadolinium enhancement (LGE). Therefore, distinguishing ACM-LV from pIM based on the extensive LGE of the left ventricle has extremely high specificity.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Article
Genetics & Heredity
Alex Horby Christensen, Pyotr G. Platonov, Henrik Kjaerulf Jensen, Monica Chivulescu, Anneli Svensson, Pia Dahlberg, Trine Madsen, Tanja Charlotte Frederiksen, Tiina Helio, Oyvind Haugen Lie, Kristina H. Haugaa, Jesper Hastrup Svendsen, Henning Bundgaard
Summary: ARVC is predominantly caused by desmosomal genetic variants. PKP2 genotype is more arrhythmic than DSC2/DSG2/DSP or gene-negative patients, while reduced LVEF is mainly seen in DSC2/DSG2/DSP carriers. Male sex is associated with a more severe phenotype.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Medicine, General & Internal
Chin-Yu Lin, Fa-Po Chung, Nwe Nwe, Yu-Cheng Hsieh, Cheng-Hung Li, Yenn-Jiang Lin, Shih-Lin Chang, Li-Wei Lo, Yu-Feng Hu, Ta-Chuan Tuan, Tze-Fan Chao, Jo-Nan Liao, Ting-Yung Chang, Ling Kuo, Cheng- Wu, Chih-Min Liu, Shin-Huei Liu, Wen-Han Cheng, Shih-Ann Chen
Summary: This study investigates the effect of amiodarone on ablation outcomes in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) undergoing catheter ablation for drug-refractory ventricular tachycardia (VT). The results showed that patients on amiodarone before ablation had worse outcomes than patients off amiodarone, especially those who had used amiodarone continuously.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Biochemistry & Molecular Biology
Riccardo Bariani, Ilaria Rigato, Alberto Cipriani, Maria Bueno Marinas, Rudy Celeghin, Cristina Basso, Domenico Corrado, Kalliopi Pilichou, Barbara Bauce
Summary: Arrhythmogenic cardiomyopathy (ACM) is a genetically determined myocardial disease that may be associated with inflammation. Hot-phase episodes are angina episodes observed in ACM patients. This review evaluated the clinical features of ACM patients with hot-phase episodes and found that they are usually young, with Desmoplakin (DSP) being the most common disease gene.
Article
Cardiac & Cardiovascular Systems
Edgardo Alania-Torres, Herminio Morillas-Climent, Alexandre Garcia-Escriva, Paul Vinueza-Buitron, Inmaculada Poquet-Catala, Esther Zorio, Ignacio Jose Sanchez-Lazaro, Emilio Galcera-Jornet, Alfonso Valle-Munoz
Summary: ALVC and myocarditis both affect the heart, but the former is a rare heritable heart-muscle disorder while the latter is usually caused by infections. This article reports a case of myocarditis possibly induced by Covid-19 vaccine in a patient with ALVC, highlighting the differences and similarities between the two.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Review
Cardiac & Cardiovascular Systems
Xuehui Fan, Guoqiang Yang, Jacqueline Kowitz, Firat Duru, Ardan M. Saguner, Ibrahim Akin, Xiaobo Zhou, Ibrahim El-Battrawy
Summary: Cardiovascular diseases are the main cause of SCD, with SQTS being a rare inherited channelopathy with unclear mechanisms and lack of optimal therapy. Further evaluation of QTc ranges is needed, along with large SQTS cohorts and genetic screening for new pathogenic mutations.
Letter
Critical Care Medicine
P. Paal, C. Lott, H. Brugger, M. Falk, V. Rousson, M. Pasquier
Article
Dentistry, Oral Surgery & Medicine
Siegward D. Heintze, Alessandro D. Loguercio, Taise A. Hanzen, Alessandra Reis, Valentin Rousson
Summary: This review provides an update on the longevity of posterior resin composite restorations and their relationship with material and adhesive types. The survival rate of resin composite restorations dropped to 85-90% after 10 years, with bulk fractures and wear being the main reasons for replacement. There were no significant differences between nanohybrid, hybrid, and microhybrid resin composites in terms of color match, surface texture, and anatomical form. Compomer and GIC restorations demonstrated shorter longevity.
Article
Medicine, General & Internal
Nixiao Zhang, Chuangshi Wang, Alessio Gasperetti, Yanyan Song, Hongxia Niu, Min Gu, Firat Duru, Liang Chen, Shu Zhang, Wei Hua
Summary: The study validated the good fitness of the novel risk-prediction model in predicting arrhythmic risk in Asian ARVC patients for primary prevention, and for secondary prevention patients after recalibration of the baseline risk. The performance of the prediction model in secondary prevention patients was improved after recalibration.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Sarah Costa, Kristina Koch, Alessio Gasperetti, Deniz Akdis, Corinna Brunckhorst, Guan Fu, Felix C. Tanner, Frank Ruschitzka, Firat Duru, Ardan M. Saguner
Summary: This study investigated the exercise performance and ventricular function of ARVC patients during follow-up, taking into account their adherence to exercise restriction recommendations. The results showed that if intensive sports activities are not discontinued, exercise capacity and left ventricular function of athletes with ARVC deteriorates over time. Therefore, it is essential for all ARVC patients to strictly adhere to the recommendation to cease intense sports activity in order to halt disease progression.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Rahel Zuercher, Anique Herling, Marc T. Schmidt, Marta Bachmann, Stephan Winnik, Firat Duru, Urs Eriksson
Summary: This retrospective study evaluates the safety of standardized, transesophageal echocardiography (TEE)-guided transseptal access to the left atrium in consecutive patients who underwent endovascular pulmonary vein isolation (PVI). The results showed that there were no complications related to transseptal access, confirming the safety of the TEE-guided approach.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Medicine, General & Internal
Tolga Cimen, Argelia Medeiros-Domingo, Antonios Kolios, Deniz Akdis, Shehab Anwer, Felix C. C. Tanner, Corinna Brunckhorst, Firat Duru, Ardan M. M. Saguner
Summary: In this case report, a 58-year-old male patient with cardiomyopathy and palmoplantar keratosis is described. Genetic testing revealed a novel variant in the desmoplakin gene, suggesting the presence of Cardiocutaneous syndrome. Repeated genetic testing is clinically significant, especially in patients with a high probability of a specific inherited cardiac disease, to improve diagnostic accuracy.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Nikolas Nozica, Babken Asatryan, Stefania Aur, Judith Bouchardy Clement, Markus Schwerzmann, Fu Guan, Patrizio Pascale, Matthias Gass, Firat Duru, Tobias Reichlin, Etienne Pruvot, Thomas Wolber, Laurent Roten
Summary: This study indicates that arrhythmias are common in adult patients with dextro-transposition of the great arteries (D-TGA) and atrial switch surgery, and associated rhythm interventions are frequent. Approximately half of these patients experience arrhythmias, with 10% not surviving until the age of 35 without left ventricular assist device or heart transplantation, and the prognosis is worse in patients with concomitant ventricular septum defect.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Review
Medicine, General & Internal
Natallia Laptseva, Valentina A. Rossi, Isabella Sudano, Rahel Schwotzer, Frank Ruschitzka, Andreas J. Flammer, Firat Duru
Summary: Amyloidosis is a systemic disease characterized by extracellular deposits of insoluble amyloid in various tissues and organs. Cardiac amyloidosis is a frequent feature of the disease, causing a progressive, restrictive type of cardiomyopathy, and is associated with adverse clinical outcomes and increased mortality. This review aims to provide insights into the arrhythmic features of cardiac amyloidosis by discussing the pathogenesis, challenges in risk stratification, and management strategies for these arrhythmias.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Stephanie M. van der Voorn, Mimount Bourfiss, Steven A. Muller, Tolga Cimen, Ardan M. Saguner, Firat Duru, Anneline S. J. M. te Riele, Carol Ann Remme, Toon A. B. van Veen
Summary: Arrhythmogenic cardiomyopathy (ACM) is characterized by a fibro-(fatty) replacement of the myocardium. However, current cardiac imaging modalities have limitations in detecting fibrosis patterns. In this study, serum samples were collected from 45 ACM patients and the levels of PICP and ICTP were measured. The results showed that diagnosed patients had higher levels of PICP and PICP/ICTP compared to preclinical variant carriers, indicating an increased collagen deposition. Furthermore, negative correlations were found between PICP/ICTP ratio and right ventricular ejection fractions, as well as significant correlations with left ventricular function. These findings suggest that PICP/ICTP levels may serve as potential biomarkers for ACM.
Article
Biochemistry & Molecular Biology
Stephanie M. van der Voorn, Esmee van Drie, Virginnio Proost, Kristina Dimitrova, Robert F. Ernst, Cynthia A. James, Crystal Tichnell, Brittney Murray, Hugh Calkins, Ardan M. Saguner, Firat Duru, Patrick T. Ellinor, Connie R. Bezzina, Sean J. Jurgens, J. Peter van Tintelen, Toon A. B. van Veen
Summary: This study investigated the impact of the p.(Ser96Ala) polymorphism in the HRC gene on cardiomyopathy and found no association with life-threatening arrhythmias or heart failure-related events, suggesting a lack of evidence supporting its role as a modifier in cardiomyopathy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Valerie Schutz, Svetlana Dougoud, Katja Bracher, Markus Arnold, Juliane Schweizer, Christos Nakas, Laura P. Westphal, Corinne Inauen, Thomas Pokorny, Firat Duru, Jan Steffel, Andreas Luft, Katharina Spanaus, Ardan Muammer Saguner, Mira Katan
Summary: This study aimed to evaluate the predictive value of pre-determined ECG criteria for newly diagnosed atrial fibrillation (NDAF) in unselected AIS patients. It was found that advanced interatrial block (aIAB) is an independent predictor of NDAF, and adding it to a multivariable regression model improves the accuracy of prediction.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Fu Guan, Matthias Gass, Florian Berger, Deniz Akdis, Firat Duru, Thomas Wolber
Summary: This study explored the feasibility and safety of using a fluoroscopy-free or low-dose fluoroscopy approach for transseptal punctures (TSP) in adults with congenital heart disease (ACHD) undergoing left atrial cardiac ablation procedures. By superimposing 3D electroanatomic mapping with cardiac CT anatomy, this protocol proved to be highly effective, feasible and safe in ACHD patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Pediatrics
Roland Gerull, Eva Huber, Valentin Rousson, Olaf Ahrens, Celine J. Fischer Fumeaux, Mark Adams, Cristina Borradori Tolsa, Roland P. Neumann, Myriam Bickle-Graz, Giancarlo Natalucci
Summary: This retrospective population-based cohort study found no significant association between postnatal growth and neurodevelopment in extremely low gestational age newborns at the age of 2 years.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Medicine, General & Internal
Marie-Annick Le Pogam, Laurence Seematter-Bagnoud, Tapio Niemi, Dan Assouline, Nathan Gross, Bastien Trachsel, Valentin Rousson, Isabelle Peytremann-Bridevaux, Bernard Burnand, Brigitte Santos-Eggimann
Summary: This study aimed to develop and validate a tool for assessing frailty in older adults based on one-year hospital discharge data. The eFS model showed reliable performance in stratifying groups and prioritizing individuals for frailty assessment in both hospitalized and community-dwelling older adults.