Article
Cardiac & Cardiovascular Systems
Peter J. Schwartz, Cristina Moreno, Maria-Christina Kotta, Matteo Pedrazzini, Lia Crotti, Federica Dagradi, Silvia Castelletti, Kristina H. Haugaa, Isabelle Denjoy, Maria A. Shkolnikova, Paul A. Brink, Marshall J. Heradien, Sandrine R. M. Seyen, Roel L. H. M. G. Spatjens, Carla Spazzolini, Paul G. A. Volders
Summary: Mutations surrounding the A341V mutation in the KCNE1 gene increase the risk of arrhythmias, and the specific loss of PKA-dependent I-Ks enhancement in A341V correlates with its phenotypic severity.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Ilan Goldenberg, J. Martijn Bos, Ayhan Yoruk, Anita Y. Chen, Coeli Lopes, David T. Huang, Valentina Kutyifa, Arwa Younis, Mehmet K. Aktas, Spencer Z. Rosero, Scott McNitt, Nona Sotoodehnia, Peter J. Kudenchuk, Thomas D. Rea, Dan E. Arking, Christopher G. Scott, Kaylie A. Briske, Katrina Sorensen, Michael J. Ackerman, Wojciech Zareba
Summary: This study developed a risk prediction model to provide personalized risk estimates for cardiac events and life-threatening events in women with type 1 or type 2 long QT syndrome based on genotype-phenotype data. The model showed 10-year projected rates of CEs and life-threatening events, with C statistics indicating the model's predictive accuracy. External validation in a separate cohort also showed promising results for the model's predictive ability.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Multidisciplinary Sciences
Kenji Nakamichi, Russell N. Van Gelder, Jennifer R. Chao, Debarshi Mustafi
Summary: Inherited retinal degenerations (IRDs) are a group of genetic diseases with multiple causative genes. Short-read exome sequencing, commonly used for genotyping, may fail to identify disease-causing variants in a significant number of patients. Long-read genome sequencing with targeted approach can provide accurate and phased variant identification. This study demonstrates the effectiveness of targeted adaptive long-read sequencing in identifying disease-causing alleles in IRDs.
SCIENTIFIC REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Lauren A. Yee, Hui-Chen Han, Brianna Davies, Charles M. Pearman, Zachary W. M. Laksman, Jason D. Roberts, Christian Steinberg, Rafik Tadros, Julia Cadrin-Tourigny, Christopher S. Simpson, Martin Gardner, Ciorsti MacIntyre, Laura Arbour, Richard Leather, Anne Fournier, Martin S. Green, Shane Kimber, Paul Angaran, Shubhayan Sanatani, Jacqueline Joza, Habib Khan, Jeffrey S. Healey, Joseph Atallah, Colette Seifer, Andrew D. Krahn
Summary: The study confirmed the high predictive value of the 3-step algorithm based on exercise response for diagnosing LQTS in a more representative population, with better accuracy in confirming the condition in female patients.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Review
Medicine, General & Internal
Malanka Lankaputhra, Aleksandr Voskoboinik
Summary: Congenital long QT syndrome (LQTS) is a familial cardiac ion channelopathy characterized by prolonged ventricular repolarization and associated arrhythmias. Recent progress has been made in understanding the complex genetic model, diagnosis, and management of LQTS subtypes: LQT1, LQT2, and LQT3.
INTERNAL MEDICINE JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Sahej Bains, Adi Lador, Raquel Neves, J. Martijn Bos, John R. Giudicessi, Bryan C. Cannon, Michael J. Ackerman
Summary: Chronic continuous intravenous (IV) lidocaine infusion may serve as a potential bridge to transplantation for LQT3 patients who are refractory to standard treatment.
Article
Cardiac & Cardiovascular Systems
Caroline Davydoff, Antoine Andorin, Damien Minois, Marine Arnaud, Mathilde Minier, Frederic Sacher, Raphael Martins, Nicolas Clementy, Jean Baptiste Gourraud, Vincent Probst
Summary: The incidence of cardiac arrhythmic events (CAEs) during sports practice in patients diagnosed with long QT syndrome (LQTS) is low, especially after good compliance with beta-blocker therapy.
Review
Cardiac & Cardiovascular Systems
Christian Krijger Juarez, Ahmad S. Amin, Joost A. Offerhaus, Connie R. Bezzina, Bastiaan J. Boukens
Summary: Abnormal cardiac repolarization is the underlying cause of life-threatening arrhythmias in various congenital and acquired cardiac diseases. Dysfunction of ion channels involved in repolarization at the cellular level often leads to the repolarization abnormality. Understanding the genetic and electrophysiological basis of repolarization provides insights into cardiac repolarization and may contribute to improved patient-specific management in the future.
JACC-CLINICAL ELECTROPHYSIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Tomas Robyns, Dieter Nuyens, Bert Vandenberk, Peter Haemers, Jeroen Breckpot, Christophe Garweg, Joris Ector, Rik Willems
Summary: This study aimed to confirm the diagnostic value of individualized QT interval (QTi) in Long QT syndrome (LQTS), fine-tune its cut-off value and evaluate intra-individual variability. The results showed that using gender-dependent cut-off values, QTi has a high diagnostic accuracy in LQTS families.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Gardar Sveinbjornsson, Bara D. Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B. Davidsson, Rosa B. Thorolfsdottir, Vinicius Tragante, Gudny A. Arnadottir, Brynjar O. Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M. Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F. Gudbjartsson, Hilma Holm, David O. Arnar, Kari Stefansson
Summary: This study investigated the relationship between the use of coronary revascularization and long-term survival in patients with acute heart failure. The results showed that patients who underwent revascularization had a significantly higher survival rate within 5 years post-surgery. However, in certain high-risk patients, revascularization may not have a significant impact on survival rate improvement.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Cherry Alexander, Martin J. Bishop, Rebecca J. Gilchrist, Francis L. Burton, Godfrey L. Smith, Rachel C. Myles
Summary: This study demonstrates that activation of L-type calcium channels (LTCC) at sites displaying steep voltage gradients generates premature ventricular complexes (PVCs) which induce polymorphic ventricular tachycardia (TdP), providing a mechanism and rationale for using LTCC blockers as a novel therapeutic approach in long QT syndrome (LQTS).
CARDIOVASCULAR RESEARCH
(2023)
Article
Cardiac & Cardiovascular Systems
Sahej Bains, Raquel Neves, J. Martijn Bos, John R. Giudicessi, Ciorsti MacIntyre, Michael J. Ackerman
Summary: This study reveals that the main causes of overdiagnosis of Long QT syndrome (LQTS) are prolonged QTc interval due to vasovagal syncope, mistaken positive genetic test results, unrelated family history of sudden cardiac death (SCD), isolated/transient QT prolongation, and misinterpretation of QTc interval. Understanding these determinants can increase awareness and provide critical guidance to reduce the burden of overdiagnosed LQTS.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Yu-Wen Cheng, Chia-Tung Wu, Chi-Jen Chang, Yung-Hsin Yeh, Gwo-Jyh Chang, Hsin-Yi Tsai, Lung-An Hsu
Summary: Through whole-exome sequencing, we identified a novel AGCGACAC deletion (S981fs) in the hERG gene of an LQT2 patient. Functional expression of the mutant K channel was restored by lowering temperature and using potassium channel inhibitors or openers. Our study reveals the mechanisms underlying LQT2 and offers potential therapeutic avenues.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(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
Babken Asatryan, Lauren Yee, Yael Ben-Haim, Stephan Dobner, Helge Servatius, Laurent Roten, Hildegard Tanner, Lia Crotti, Jonathan R. Skinner, Carol Ann Remme, Philippe Chevalier, Argelia Medeiros-Domingo, Elijah R. Behr, Tobias Reichlin, Katja E. Odening, Andrew D. Krahn
Summary: Sex-related differences in cardiac channelopathies are increasingly recognized, with varying risks and clinical features between men and women in different conditions, mainly influenced by age and sex hormones. While sex-specific predictors have been identified, gaps in the mechanistic understanding of these differences remain, highlighting the need for further research to address these disparities and improve patient outcomes.
Article
Cardiac & Cardiovascular Systems
Sirisha M. Cheedipudi, Jinzhu Hu, Siyang Fan, Ping Yuan, Jennifer Karmouch, Grace Czernuszewicz, Matthew J. Robertson, Cristian Coarfa, Kui Hong, Yan Yao, Hanna Campbell, Xander Wehrens, Priyatansh Gurha, Ali J. Marian
CARDIOVASCULAR RESEARCH
(2020)
Article
Cardiac & Cardiovascular Systems
Charlotte L. Hall, Priyatansh Gurha, Maria Sabater-Molina, Angeliki Asimaki, Marta Futema, Ruth C. Lovering, Mari Paz Suarez, Beatriz Aguilera, Pilar Molina, Esther Zorio, Cristian Coarfa, Matthew J. Robertson, Sirisha M. Cheedipudi, Keat-eng Ng, Paul Delaney, Juan Pedro Hernandez, Francisco Pastor, Juan R. Gimeno, William J. McKenna, Ali J. Marian, Petros Syrris
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2020)
Review
Cardiac & Cardiovascular Systems
Ali J. Marian, Babken Asatryan, Xander H. T. Wehrens
CARDIOVASCULAR RESEARCH
(2020)
Review
Cardiac & Cardiovascular Systems
Tomasz J. Guzik, Saidi A. Mohiddin, Anthony Dimarco, Vimal Patel, Kostas Savvatis, Federica M. Marelli-Berg, Meena S. Madhur, Maciej Tomaszewski, Pasquale Maffia, Fulvio D'Acquisto, Stuart A. Nicklin, Ali J. Marian, Ryszard Nosalski, Eleanor C. Murray, Bartlomiej Guzik, Colin Berry, Rhian M. Touyz, Reinhold Kreutz, Dao Wen Wang, David Bhella, Orlando Sagliocco, Filippo Crea, Emma C. Thomson, Iain B. McInnes
CARDIOVASCULAR RESEARCH
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Ali J. Marian
CURRENT OPINION IN CARDIOLOGY
(2020)
Article
Medicine, Research & Experimental
Gaelle Auguste, Leila Rouhi, Scot J. Matkovich, Cristian Coarfa, Matthew J. Robertson, Grazyna Czernuszewicz, Priyatansh Gurha, Ali J. Marian
JOURNAL OF CLINICAL INVESTIGATION
(2020)
Article
Cardiac & Cardiovascular Systems
Jordi Coste Pradas, Gaelle Auguste, Scot J. Matkovich, Raffaella Lombardi, Suet Nee Chen, Tyrone Garnett, Kyle Chamberlain, Jalish Mahmud Riyad, Thomas Weber, Sanjay K. Singh, Matthew J. Robertson, Cristian Coarfa, Ali J. Marian, Priyatansh Gurha
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2020)
Article
Cardiac & Cardiovascular Systems
Leila Rouhi, Sirisha M. Cheedipudi, Suet Nee Chen, Siyang Fan, Raffaella Lombardi, Xiaofan Chen, Cristian Coarfa, Matthew J. Robertson, Priyatansh Gurha, Ali J. Marian
Summary: The study identified that TMEM43 haploinsufficiency leads to activation of the DDR and TP53 pathways, resulting in increased expression of SASP and an age-dependent pro-fibrotic cardiomyopathy. The shared mechanism in the pathogenesis of cardiomyopathies caused by mutations involving nuclear envelope proteins may involve DNA damage response.
CARDIOVASCULAR RESEARCH
(2021)
Biographical-Item
Cardiac & Cardiovascular Systems
Ali J. Marian
CARDIOVASCULAR RESEARCH
(2020)
Article
Medicine, General & Internal
Iacopo Olivotto, Artur Oreziak, Roberto Barriales-Villa, Theodore P. Abraham, Ahmad Masri, Pablo Garcia-Pavia, Sara Saberi, Neal K. Lakdawala, Matthew T. Wheeler, Anjali Owens, Milos Kubanek, Wojciech Wojakowski, Morten K. Jensen, Juan Gimeno-Blanes, Kia Afshar, Jonathan Myers, Sheila M. Hegde, Scott D. Solomon, Amy J. Sehnert, David Zhang, Wanying Li, Mondira Bhattacharya, Jay M. Edelberg, Cynthia Burstein Waldman, Steven J. Lester, Andrew Wang, Carolyn Y. Ho, Daniel Jacoby
Review
Cardiac & Cardiovascular Systems
Ali J. Marian
Summary: COVID-19 is caused by SARS-CoV-2, and scientists have been able to develop therapies and vaccines based on previous research on SARS-CoV and MERS-CoV. By studying the structure and proteins of SARS-CoV-2, researchers have successfully developed vaccines and antiviral therapies for COVID-19.
CARDIOVASCULAR PATHOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Ping Yuan, Sirisha M. Cheedipudi, Leila Rouhi, Siyang Fan, Lukas Simon, Zhongming Zhao, Kui Hong, Priyatansh Gurha, Ali J. Marian
Summary: In a mouse model of ACM, epicardial-derived cardiac fibroblasts and epithelial cells express paracrine factors, including TGF beta 1 and fibroblast growth factors, which mediate epithelial-mesenchymal transition and contribute to myocardial fibrosis, apoptosis, arrhythmias, and cardiac dysfunction.
Article
Cardiac & Cardiovascular Systems
A. J. Marian
Summary: Hypertrophic cardiomyopathy (HCM) is a genetic disease characterized by left ventricular hypertrophy and may lead to heart failure or sudden cardiac death. Pathogenic variants in genes encoding myocardial protein constituents, especially MYH7 and MYBPC3 genes, are the main causes of HCM. Advances in genetic testing and drug development have improved the therapeutic prospects for HCM.
CIRCULATION RESEARCH
(2021)
Editorial Material
Cardiac & Cardiovascular Systems
Ali J. Marian
CARDIOVASCULAR RESEARCH
(2022)
Review
Cardiac & Cardiovascular Systems
Ali J. Marian
JACC-BASIC TO TRANSLATIONAL SCIENCE
(2020)
