Article
Engineering, Biomedical
Marianne Wauchop, Naimeh Rafatian, Yimu Zhao, Wenliang Chen, Mark Gagliardi, Stephane Masse, Brian J. Cox, Patrick Lai, Timothy Liang, Shira Landau, Stephanie Protze, Xiao Dong Gao, Erika Yan Wang, Kelvin Chan Tung, Zachary Laksman, Rick Xing Ze Lu, Gordon Keller, Kumaraswamy Nanthakumar, Milica Radisic, Peter H. Backx
Summary: To better understand SCN5A-related cardiomyopathies, ventricular cardiomyocytes were generated from induced pluripotent stem cells of a patient with dilated cardiomyopathy and the R222Q mutation. Heart-on-a-chip biowires were created to study the effects of the mutation on myocardial maturation. The R222Q mutation not only altered cardiac electrophysiology and Na+ current, but also caused disruptions in sarcomere structure and mechanical destabilization.
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
Physiology
Elizabeth A. Schroder, Jennifer L. Wayland, Kaitlyn M. Samuels, Syed F. Shah, Don E. Burgess, Tanya Seward, Claude S. Elayi, Karyn A. Esser, Brian P. Delisle
Summary: Studies have shown that inducing the deletion of Bmal1 in adult cardiomyocytes exacerbates cardiac arrhythmias, such as prolonging QT and RR intervals and altering heart rate variability.
FRONTIERS IN PHYSIOLOGY
(2021)
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)
Article
Cardiac & Cardiovascular Systems
Yuji Tominaga, Masaki Taira, Takuji Watanabe, Yosuke Kugo, Moyu Hasegawa, Jun Narita, Hidekazu Ishida, Ryoto Sakaniwa, Takayoshi Ueno, Shigeru Miyagawa
Summary: The clinical significance of phosphorylated H2A histone variant X as a marker for DNA damage response was investigated in low-weight paediatric patients with dilated cardiomyopathy (DCM) after Berlin Heart EXCOR implantation. Patients were classified into low DNA damage and high DNA damage groups based on the degree of DNA damage in left ventricular cardiomyocytes. It was found that the low DNA damage group showed significant left ventricular functional recovery 3 months after implantation. The percentage of phosphorylated H2A histone variant X-positive cardiomyocytes was identified as a significant factor associated with cardiac recovery and EXCOR explant.
EUROPEAN JOURNAL OF CARDIO-THORACIC SURGERY
(2023)
Review
Cardiac & Cardiovascular Systems
Xiaoxia Hu, Jing Kong, Tingting Niu, Liang Chen, Jingjing Yang
Summary: This is a case report of a 55-year-old man who presented with chest tightness and dyspnoea after activity lasting for 2 months and was diagnosed with single coronary artery (SCA) and dilated cardiomyopathy (DCM). The patient had congenital absence of the right coronary artery (RCA), and the right heart was nourished by the left coronary artery branch with no stenosis. Transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) confirmed the presence of DCM. Genetic testing revealed the c.1858C > T variant of the SCN5A gene, which could lead to Brugada syndrome and DCM. This is a rare case of SCA accompanied by DCM.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Stacey Peters, Bryony A. Thompson, Mark Perrin, Paul James, Dominica Zentner, Jonathan M. Kalman, Jamie Vandenberg, Diane Fatkin
Summary: Variants in the SCN5A gene are associated with dilated cardiomyopathy (DCM) and arrhythmias. Specific SCN5A variants can result in diverse clinical phenotypes, with the VPB-predominant phenotype being reversible with sodium channel blocking drug therapy. Early recognition of the distinctive phenotype and genetic testing are important for interpretation and management of patients with SCN5A variants.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2022)
Article
Multidisciplinary Sciences
Sebastien Theriault, Medea Imboden, Mary L. Biggs, Thomas R. Austin, Stefanie Aeschbacher, Emmanuel Schaffner, Jennifer A. Brody, Traci M. Bartz, Martin Risch, Kirsten Grossmann, Henry J. Lin, Elsayed Z. Soliman, Wendy S. Post, Lorenz Risch, Jose E. Krieger, Alexandre C. Pereira, Susan R. Heckbert, Nona Sotoodehnia, Nicole M. Probst-Hensch, David Conen
Summary: This study identified a significant genetic locus at the SCN5A gene associated with PAC frequency. Additionally, there was a significant concordance of effect between PAC frequency and genetic variants previously associated with AF. However, not all AF risk loci were associated with PAC frequency.
Article
Multidisciplinary Sciences
Kiyoshi Masuyama, Tomoaki Higo, Jong-Kook Lee, Ryohei Matsuura, Ian Jones, Chris Bakal, Shuichiro Higo, Sachio Morimoto, Shigeru Miyagawa, Yoshiki Sawa, Yasushi Sakata
Summary: A novel method was established to evaluate cardiomyocyte alignment in 3D, showing homogeneous alignment in dilated cardiomyopathy (DCM) mice. This homogeneous alignment may serve as a compensatory mechanism for cardiac dysfunction in DCM.
SCIENTIFIC REPORTS
(2021)
Article
Cardiac & Cardiovascular Systems
Molly O'Reilly, Laura C. Sommerfeld, C. O'Shea, S. Broadway-Stringer, S. Andaleeb, J. S. Reyat, S. N. Kabir, D. Stastny, A. Malinova, D. Delbue, L. Fortmueller, K. Gehmlich, D. Pavlovic, B. Skryabin, A. P. Holmes, P. Kirchhof, L. Fabritz
Summary: This study found that the point mutation M1875T in the SCN5A gene is associated with familial AF. A new mouse model was used to show that this mutation causes gain-of-function of the cardiac sodium channel, resulting in increased atrial excitability.
Article
Biochemistry & Molecular Biology
Menglong Wang, Mengmeng Zhao, Zihui Zheng, Wei Pan, Jishou Zhang, Zheng Yin, Cheng Wei, Yao Xu, Jun Wan
Summary: This study investigates the role of TRPA1 in dilated cardiomyopathy (DCM) and explores its possible mechanisms. Results show that TRPA1 expression is increased in DCM patients and rats. TRPA1 deficiency aggravates cardiac dysfunction, injury, and remodeling in DCM rats. Furthermore, TRPA1 activation via cinnamaldehyde alleviates cardiac dysfunction and reduces S100A8 expression in DCM rats.
Article
Cardiac & Cardiovascular Systems
Jirko Kuehnisch, Simon Theisen, Josephine Dartsch, Raphaela Fritsche-Guenther, Marieluise Kirchner, Benedikt Obermayer, Anna Bauer, Anne-Karin Kahlert, Michael Rothe, Dieter Beule, Arnd Heuser, Philipp Mertins, Jennifer A. Kirwan, Nikolaus Berndt, Calum A. Macrae, Norbert Hubner, Sabine Klaassen
Summary: Monoallelic, global Prdm16 mutation diminishes cardiac performance in Prdm16csp1/wt mice. Metabolic alterations and transcriptional dysregulation in Prdm16csp1/wt affect cardiac tissue. Female Prdm16csp1/wt mice develop a more pronounced phenotype, indicating sexual dimorphism at this early pathological window. This study suggests that metabolic dysregulation is an early event in the PRDM16 associated cardiac pathology.
CARDIOVASCULAR RESEARCH
(2023)
Article
Medicine, General & Internal
Maurits A. Sikking, Sophie L. V. M. Stroeks, Michiel T. H. M. Henkens, Max F. G. H. M. Venner, Xiaofei Li, Stephane R. B. Heymans, Mark R. Hazebroek, Job A. J. Verdonschot
Summary: Dilated cardiomyopathy (DCM) has a genetic cause in up to 40% of cases, and the presence of cardiac inflammation is associated with a younger disease onset in genetic DCM patients. However, cardiac inflammation does not increase the risk of mortality, heart failure hospitalization, or life-threatening arrhythmias. This suggests that myocarditis may be an exogeneous trigger for DCM in patients with a genetic susceptibility or that cardiac inflammation represents an early phase of the disease.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Kseniya Perepelina, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Kostareva
Summary: In this study, we successfully created an in vitro cardiac model of laminopathy using induced pluripotent stem cells from a patient carrying the LMNA p.R249Q genetic variant. Our findings demonstrate that this genetic variant leads to abnormal sodium currents in cardiomyocytes and alters the transcription levels of cardiac-specific genes.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Anna Orlova, Daria Guseva, Oxana Ryzhkova
Summary: This study described a new case of severe dilated cardiomyopathy caused by a frameshift mutation in the CASZ1 gene. The clinical presentation was similar to previous studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Christine L. Jellis, Teerapat Yingchoncharoen, Neville Gai, Kenya Kusunose, Zoran B. Popovic, Scott Flamm, Deborah Kwon
INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING
(2018)
Article
Cardiac & Cardiovascular Systems
Kazuaki Negishi, Allen G. Borowski, Zoran B. Popovic, Neil L. Greenberg, David S. Martin, Michael W. Bungo, Benjamin D. Levine, James D. Thomas
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2017)
Letter
Cardiac & Cardiovascular Systems
Bo Xu, Serge Harb, Nael Hawwa, Wilson Tang, Georges Nakhoul, Richard Fatica, Zoran Popovic, Wael Jaber
JACC-CARDIOVASCULAR IMAGING
(2017)
Article
Cardiac & Cardiovascular Systems
Albree Tower-Rader, Jorge Betancor, Zoran B. Popovic, Kimi Sato, Maran Thamilarasan, Nicholas G. Smedira, Harry M. Lever, Milind Y. Desai
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2017)
Article
Cardiac & Cardiovascular Systems
Kenya Kusunose, Nancy A. Obuchowski, Marc Gillinov, Zoran B. Popovic, Scott D. Flamm, Brian P. Griffin, Deborah H. Kwon
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2017)
Article
Cardiac & Cardiovascular Systems
Kimi Sato, Arnav Kumar, Brandon M. Jones, Stephanie L. Mick, Amar Krishnaswamy, Richard A. Grimm, Milind Y. Desai, Brian P. Griffin, L. Leonardo Rodriguez, Samir R. Kapadia, Nancy A. Obuchowski, Zoran B. Popovic
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2017)
Article
Cardiac & Cardiovascular Systems
Eoin Donnellan, Ahmad Masri, Douglas R. Johnston, Gosta B. Pettersson, L. Leonardo Rodriguez, Zoran B. Popovic, Eric E. Roselli, Nicholas G. Smedira, Lars G. Svensson, Brian P. Griffin, Milind Y. Desai
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2017)
Article
Cardiac & Cardiovascular Systems
Alaa Alashi, Amgad Mentias, Amjad Abdallah, Ke Feng, A. Marc Gillinov, L. Leonardo Rodriguez, Douglas R. Johnston, Lars G. Svensson, Zoran B. Popovic, Brian P. Griffin, Milind Y. Desai
JACC-CARDIOVASCULAR IMAGING
(2018)
Review
Cardiac & Cardiovascular Systems
Zoran B. Popovic, Kimi Sato, Milind Y. Desai
CARDIOVASCULAR DIAGNOSIS AND THERAPY
(2018)
Meeting Abstract
Cardiac & Cardiovascular Systems
Ramyashree Tummala, Kinjal Banerjee, Stephanie Mick, Amar Krishnaswamy, Jonathon White, Maan Fares, Anand Mehta, Zoran Popovic, Samir Kapadia
Article
Cardiac & Cardiovascular Systems
Divyanshu Mohananey, Brian P. Griffin, Lars G. Svensson, Zoran B. Popovic, E. Murat Tuzcu, L. Leonardo Rodriguez, Samir R. Kapadia, Milind Y. Desai
CIRCULATION-CARDIOVASCULAR INTERVENTIONS
(2017)
Article
Cardiac & Cardiovascular Systems
Dermot Phelan, Brett W. Sperry, Paaladinesh Thavendiranathan, Patrick Collier, Zoran B. Popovic, Harry M. Lever, Nicholas G. Smedira, Milind Desai
AMERICAN JOURNAL OF CARDIOLOGY
(2017)
Article
Cardiac & Cardiovascular Systems
Brett W. Sperry, Ahmed Ibrahim, Kazuaki Negishi, Tomoko Negishi, Parag Patel, Zoran B. Popovic, Daniel Culver, Richard Brunken, Thomas H. Marwick, Balaji Tamarappoo
AMERICAN JOURNAL OF CARDIOLOGY
(2017)
Article
Cardiac & Cardiovascular Systems
Amr F. Barakat, Brett W. Sperry, Randall C. Starling, Amgad Mentias, Zoran B. Popovic, Brian P. Griffin, Milind Y. Desai
AMERICAN JOURNAL OF CARDIOLOGY
(2017)
Article
Cardiac & Cardiovascular Systems
Zoran B. Popovic, James D. Thomas
CARDIOVASCULAR DIAGNOSIS AND THERAPY
(2017)