Article
Medicine, Research & Experimental
Yanghai Zhang, Zachery R. Gregorich, Yujuan Wang, Camila Urbano Braz, Jibin Zhang, Yang Liu, Peiheng Liu, Jiaxi Shen, Nanyumuzi Aori, Timothy A. Hacker, Henk Granzier, Wei Guo
Summary: Human patients with genetic mutations in RBM20 develop severe dilated cardiomyopathy (DCM). A mouse model with RS domain deletion (Rbm20 & UDelta;RS) showed DCM and mis-splicing of RBM20 target transcripts, indicating the importance of RS domain function for severe DCM. Further studies revealed that DCM-associated mutations in the RS domain facilitate RBM20 nucleocytoplasmic transport and granule assembly, while mutations in the RNA recognition motif do not cause DCM or RBM20 granule formation.
Article
Biology
Giuseppina Mastrototaro, Pierluigi Carullo, Jianlin Zhang, Beatrice Scellini, Nicoletta Piroddi, Simona Nemska, Maria Carmela Filomena, Simone Serio, Carol A. Otey, Chiara Tesi, Fabian Emrich, Wolfgang A. Linke, Corrado Poggesi, Simona Boncompagni, Marie-Louise Bang, Nuno Guimaraes-Camboa
Summary: Palladin (PALLD) is a protein associated with actin and immunoglobulin in the heart. Its role in the heart has been unclear due to embryonic lethality in knockout mice. However, a study found that PALLD is necessary for normal cardiac function, as its deletion in adult mice led to cardiac abnormalities and dysfunction. Additionally, PALLD interacts with other proteins such as CARP/Ankrd1 and FHOD1. This research sheds light on the importance of PALLD in the heart.
Article
Cardiac & Cardiovascular Systems
Ana Rubina Perestrelo, Ana Catarina Silva, Jorge Oliver-De La Cruz, Fabiana Martino, Vladimir Horvath, Guido Caluori, Ondrej Polansky, Vladimir Vinarsky, Giulia Azzato, Giuseppe de Marco, Vita Zampachova, Petr Skladal, Stefania Pagliari, Alberto Rainer, Perpetua Pinto-do-O, Alessio Caravella, Kamila Koci, Diana S. Nascimento, Giancarlo Forte
Summary: The study reveals that the remodeling of cardiac extracellular matrix (ECM) during heart failure (HF) leads to cardiac fibroblast activation and focal adhesion protein expression through hyperactivated YAP signaling, impacting cell homing.
CIRCULATION RESEARCH
(2021)
Article
Genetics & Heredity
Takuma Yamamoto, Rie Sano, Aya Miura, Mai Imasaka, Yoshiro Naito, Minori Nishiguchi, Kensuke Ihara, Naruhito Otani, Yoshihiko Kominato, Masaki Ohmuraya, Hidehito Kuroyanagi, Hajime Nishio
Summary: This study identified the manifestation of I536T-RBM20 variant in human patients and its effects in a mouse model. The variant alters gene splicing and affects gene expression, but does not cause dilated cardiomyopathy.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2022)
Review
Cell Biology
Christine Mages, Heike Gampp, Pascal Syren, Ann-Kathrin Rahm, Florian Andre, Norbert Frey, Patrick Lugenbiel, Dierk Thomas
Summary: This review highlights the pathomechanisms underlying arrhythmogenicity in patients with heart failure, such as myocardial fibrosis and ion channel remodeling. It emphasizes the association of dysregulated ion channel expression with cardiomyopathy and arrhythmia development, and discusses potential therapeutic options.
Article
Biochemistry & Molecular Biology
Joseph D. Powers, Natalie J. Kirkland, Canzhao Liu, Swithin S. Razu, Xi Fang, Adam J. Engler, Ju Chen, Andrew D. McCulloch
Summary: Mutations in the FLNC gene can lead to the development of dilated cardiomyopathy (DCM) and play a key role in regulating systolic force transmission and DCM remodeling in cardiomyocytes. In experiments, loss of FLNC resulted in reduced systolic force development, defects in Z-disk alignment, changes in myofilament lattice geometry, and disruption of longitudinal force production during contraction in cardiac muscle cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cardiac & Cardiovascular Systems
Vincenzo Nuzzi, Anne Raafs, Paolo Manca, Michiel T. H. M. Henkens, Caterina Gregorio, Andrea Boscutti, Job Verdonschot, Mark Hazebroek, Christian Knackstedt, Marco Merlo, Davide Stolfo, Gianfranco Sinagra, Stephane R. B. Heymans
Summary: This study aimed to evaluate the prognostic implications of left atrial volume index (LAVI) reduction and found that a decrease in LAVI was associated with a reduced risk of mortality, heart transplantation, and heart failure hospitalization. The findings suggest that LAVI reduction may be an important parameter in risk stratification for patients with dilated cardiomyopathy.
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2023)
Article
Medicine, General & Internal
Jiayu Feng, Lin Liang, Yuyi Chen, Pengchao Tian, Xuemei Zhao, Boping Huang, Yihang Wu, Jing Wang, Jingyuan Guan, Liyan Huang, Xinqing Li, Yuhui Zhang, Jian Zhang
Summary: This study aimed to investigate the predictive value of Big endothelin-1(ET-1) for LVRR and prognosis in patients with DCM. The study found that Big ET-1 was independently associated with LVRR and had prognostic implications, which might help to improve the risk stratification of patients with DCM.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Chantal J. M. van Opbergen, Navratan Bagwan, Svetlana R. Maurya, Joon-Chul Kim, Abigail N. Smith, Daniel J. Blackwell, Jeffrey N. Johnston, Bjorn C. Knollmann, Marina Cerrone, Alicia Lundby, Mario Delmar
Summary: This study reveals the relationship between exercise, catecholaminergic stimulation, Ca-i(2+) homeostasis, and arrhythmogenesis in PKP2-deficient hearts. Training disrupts Ca-i(2+) homeostasis in PKP2cKO hearts, leading to proarrhythmogenic changes facilitated by intracellular beta-adrenergic receptors and hyperphosphorylation of phospholamban. The findings suggest potential treatments for arrhythmogenic right ventricular cardiomyopathy and highlight the importance of PKP2 and phospholamban in arrhythmogenesis.
Article
Cardiac & Cardiovascular Systems
Yuanwei Xu, Weihao Li, Ke Wan, Yaodan Liang, Xincheng Jiang, Jie Wang, David Mui, Yangjie Li, Siqi Tang, Jiajun Guo, Xinli Guo, Xiumin Liu, Jiayu Sun, Qing Zhang, Yuchi Han, Yucheng Chen
Summary: The study revealed that the absence of late gadolinium enhancement, lower T2, and extracellular volume values at baseline are significant predictors of LVRR in patients with idiopathic DCM. Furthermore, after guideline-directed medical therapy, patients with LVRR showed significant decreases in myocardial T1, matrix, and cell volume.
CIRCULATION-HEART FAILURE
(2021)
Article
Genetics & Heredity
Ainhoa Robles-Mezcua, Laura Rodriguez-Miranda, Luis Morcillo-Hidalgo, Manuel Jimenez-Navarro, Jose Manuel Garcia-Pinilla
Summary: This study described a group of patients with cardiomyopathy associated with RBM20 gene mutations, indicating a notable arrhythmogenic profile, high penetrance of familial cardiomyopathy, and cases of sudden death. One genetic variation was shared among patients with no apparent familial relationship, which was not described in control subjects.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Article
Cell Biology
Reiri Sono, Tania M. Larrinaga, Alden Huang, Frank Makhlouf, Xuedong Kang, Jonathan Su, Ryan Lau, Valerie A. Arboleda, Reshma Biniwale, Gregory A. Fishbein, Negar Khanlou, Ming-Sing Si, Gary M. Satou, Nancy Halnon, Glen S. Van Arsdell, Carol C. Gregorio, Stanly Nelson, Marlin Touma
Summary: As a key regulator of thin filament elongation in sarcomere maturation, LMOD2 has been implicated in neonatal dilated cardiomyopathy (DCM) due to thin filament shortening. We present a case of DCM caused by biallelic variants in LMOD2 gene, including the c.1193G>A (p.W398*) nonsense variant. The patient had an unusually late onset of cardiomyopathy during infancy, and histological analysis confirmed the shortening of thin filaments.
Article
Cell & Tissue Engineering
Youxu Jiang, Xiaowei Li, Tianwei Guo, Wen-Jing Lu, Shuhong Ma, Yun Chang, Yuanxiu Song, Siyao Zhang, Rui Bai, Hongyue Wang, Man Qi, Hongfeng Jiang, Hongjia Zhang, Feng Lan
Summary: This study successfully generated a PLN knockout human induced pluripotent stem cell line using CRISPR-Cas9 technology. The study found that PLN deficiency leads to the development of a cardiac failure phenotype primarily through abnormal calcium ion transport and cellular energy metabolism imbalance.
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
Radiology, Nuclear Medicine & Medical Imaging
Suyon Chang, Kyunghwa Han, Yonghan Kwon, Lina Kim, Seunghyun Hwang, Hwiyoung Kim, Byoung Wook Choi
Summary: This study aimed to develop and validate models using radiomics features on a native T1 map from cardiac magnetic resonance (CMR) to predict left ventricular reverse remodeling (LVRR) in patients with nonischemic dilated cardiomyopathy (NIDCM). The radiomics score showed good predictive performance in internal validation.
KOREAN JOURNAL OF RADIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Heather N. Anderson, Frank Cetta, David J. Driscoll, Timothy M. Olson, Michael J. Ackerman, Jonathan N. Johnson
AMERICAN JOURNAL OF CARDIOLOGY
(2018)
Article
Cardiac & Cardiovascular Systems
Talha Niaz, Joseph T. Poterucha, Timothy M. Olson, Jonathan N. Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J. Hagler
JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY
(2018)
Article
Cardiac & Cardiovascular Systems
Marites T. Woon, Pamela A. Long, Louise Reilly, Jared M. Evans, Alexis M. Keefe, Martin R. Lea, Carl J. Beglinger, Ravi C. Balijepalli, Youngsook Lee, Timothy M. Olson, Timothy J. Kamp
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2018)
Article
Cardiac & Cardiovascular Systems
David Adlam, Timothy M. Olson, Nicolas Combaret, Jason C. Kovacic, Siiri E. Iismaa, Abtehale Al-Hussaini, Megan M. O'Byrne, Sara Bouajila, Adrien Georges, Ketan Mishra, Peter S. Braund, Valentina d'Escamard, Siying Huang, Marios Margaritis, Christopher P. Nelson, Mariza de Andrade, Daniella Kadian-Dodov, Catherine A. Welch, Stephani Mazurkiewicz, Xavier Jeunemaitre, Claire Mei Yi Wong, Eleni Giannoulatou, Michael Sweeting, David Muller, Alice Wood, Lucy McGrath-Cadell, Diane Fatkin, Sally L. Dunwoodie, Richard Harvey, Cameron Holloway, Jean-Philippe Empana, Xavier Jouven, Jeffrey W. Olin, Rajiv Gulati, Marysia S. Tweet, Sharonne N. Hayes, Nilesh J. Samani, Robert M. Graham, Pascal Motreff, Nabila Bouatia-Naji
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2019)
Article
Cardiac & Cardiovascular Systems
Harold M. Burkhart, Muhammad Yasir Qureshi, Joseph W. Rossano, Susana Cantero Peral, Patrick W. O'Leary, Matthew Hathcock, Walter Kremers, Timothy J. Nelson, Amanda Breuer, Karen Cavanaugh, Frank Cetta, Joseph A. Dearani, Allan Dietz, Brooks Edwards, Shauna Hirsch, Kimberly Holst, Karen Krucker, Kathryn Lenn, Sara Martineau, Christopher E. Mascio, Angela Majerus, Angela Miller, Jennifer Miller, Karen Miller, Arshid Mir, Timothy M. Olson, Darci Radel, Chelsea Reece, Lori Riess, Sameh M. Said, Juanita Taylor, Julia Thebiay, Jess L. Thompson, Mark Wentworth, Joan Wobig
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2019)
Article
Pediatrics
Rabia Javed, Frank Cetta, Sameh M. Said, Timothy M. Olson, Patrick W. O'Leary, Muhammad Yasir Qureshi
PEDIATRICS IN REVIEW
(2019)
Article
Cardiac & Cardiovascular Systems
Tamiel N. Turley, Jeanne L. Theis, Rhianna S. Sundsbak, Jared M. Evans, Megan M. O'Byrne, Rajiv Gulati, Marysia S. Tweet, Sharonne N. Hayes, Timothy M. Olson
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2019)
Article
Biochemistry & Molecular Biology
Analyne M. Schroeder, Massoud Allahyari, Georg Vogler, Maria A. Missinato, Tanja Nielsen, Michael S. Yu, Jeanne L. Theis, Lars A. Larsen, Preeya Goyal, Jill A. Rosenfeld, Timothy J. Nelson, Timothy M. Olson, Alexandre R. Colas, Paul Grossfeld, Rolf Bodmer
HUMAN MOLECULAR GENETICS
(2019)
Article
Cardiac & Cardiovascular Systems
Tamiel N. Turley, Megan M. O'Byrne, Matthew L. Kosel, Mariza de Andrade, Rajiv Gulati, Sharonne N. Hayes, Marysia S. Tweet, Timothy M. Olson
Article
Biology
Jeanne L. Theis, Georg Vogler, Maria A. Missinato, Xing Li, Tanja Nielsen, Xin-Xin I. Zeng, Almudena Martinez-Fernandez, Stanley M. Walls, Anais Kervadec, James N. Kezos, Katja Birker, Jared M. Evans, Megan M. O'Byrne, Zachary C. Fogarty, Andre Terzic, Paul Grossfeld, Karen Ocorr, Timothy J. Nelson, Timothy M. Olson, Alexandre R. Colas, Rolf Bodmer
Article
Cardiac & Cardiovascular Systems
Jeanne L. Theis, Jessie J. Hu, Rhianna S. Sundsbak, Jared M. Evans, William R. Bamlet, M. Yasir Qureshi, Patrick W. O'Leary, Timothy M. Olson
Summary: This study identified defects in cardiomyopathy-associated genes in patients with HLHS through whole genome sequencing, indicating potential impact on the functional reserve of the single-ventricle circulation.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Jeanne L. Theis, Talha Niaz, Rhianna S. Sundsbak, Zachary C. Fogarty, William R. Bamlet, Donald J. Hagler, Timothy M. Olson
Summary: By performing whole-genome sequencing and filtering for rare, predicted-damaging variants, the study identified the significant role of CELSR1 gene in familial BAV and HLHS, further implicating the importance of planar cell polarity pathway perturbation in congenital heart disease.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Jeanne L. Theis, Sarah-Dana H. Shatila, Zachary C. Fogarty, William R. Bamlet, Timothy M. Olson
Summary: By analyzing whole genome sequences, this study identified candidate genes for HLHS using three independent strategies. The results showed that variants in the MYO18B, MYO5A, and MYO15A genes are associated with HLHS. These findings provide further insights into HLHS pathogenesis.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Jay W. Schneider, Saji Oommen, Muhammad Y. Qureshi, Sean C. Goetsch, David R. Pease, Rhianna S. Sundsbak, Wei Guo, Mingming Sun, Han Sun, Hidehito Kuroyanagi, Dennis A. Webster, Alexander W. Coutts, Kimberly A. Holst, Brooks S. Edwards, Nikolas Newville, Matthew A. Hathcock, Tamene Melkamu, Francesca Briganti, Wu Wei, Maria G. Romanelli, Scott C. Fahrenkrug, Doug E. Frantz, Timothy M. Olson, Lars M. Steinmetz, Daniel F. Carlson, Timothy J. Nelson
Correction
Medicine, Research & Experimental
Yonghe Ding, Pamela A. Long, J. Martijn Bos, Yu-Huan Shih, Xiao Ma, Rhianna S. Sundsbak, Jianhua Chen, Yiwen Jiang, Liqun Zhao, Xinyang Hu, Jianan Wang, Yongyong Shi, Michael J. Ackerman, Xueying Lin, Stephen C. Ekker, Margaret M. Redfield, Timothy M. Olson, Xiaolei Xu