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)
Article
Cardiac & Cardiovascular Systems
Luis Escobar-Lopez, Juan Pablo Ochoa, Jesus G. Mirelis, Maria Angeles Espinosa, Marina Navarro, Maria Gallego-Delgado, Roberto Barriales-Villa, Ainhoa Robles-Mezcua, Maria Teresa Basurte-Elorz, Laura Gutierrez Garcia-Moreno, Vicente Climent, Juan Jimenez-Jaimez, Maria Victoria Mogollon-Jimenez, Javier Lopez, Maria Luisa Pena-Pena, Ana Garcia-Alvarez, Maria Brion, Tomas Ripoll-Vera, Julian Palomino-Doza, Coloma Tiron, Uxua Idiazabal, Maria Noel Brogger, Soledad Garcia-Hernandez, Maria Alejandra Restrepo-Cordoba, Esther Gonzalez-Lopez, Irene Mendez, Maria Sabater, Eduardo Villacorta, Jose M. Larranaga-Moreira, Ana Abecia, Ana Isabel Fernandez, Jose M. Garcia-Pinilla, Jose F. Rodriguez-Palomares, Juan Ramon Gimeno-Blanes, Antoni Bayes-Genis, Enrique Lara-Pezzi, Fernando Dominguez, Pablo Garcia-Pavia
Summary: This study found that DCM patients with pathogenic or likely pathogenic variants had worse prognosis than genotype-negative individuals. Clinical outcomes varied depending on the underlying affected gene, and individuals with baseline left ventricular ejection fraction ≤35% who had pathogenic variants were more likely to experience major adverse cardiovascular events, ESHF, and MVA compared to genotype-negative patients.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Cardiac & Cardiovascular Systems
Karen Sliwa, Johann Bauersachs, Zolt Arany, Timothy F. Spracklen, Denise Hilfiker-Kleiner
Summary: Peripartum cardiomyopathy is a global disease that should be suspected in peripartum women with symptoms of heart failure. Urgent cardiac investigations and referral to a cardiology team for expert management are crucial. Advances in genetics, pathophysiology, diagnostic approach, management, and outcome have been achieved in understanding PPCM.
EUROPEAN HEART JOURNAL
(2021)
Review
Cardiac & Cardiovascular Systems
Karen Sliwa, Johann Bauersachs, Zolt Arany, Timothy F. Spracklen, Denise Hilfiker-Kleiner
Summary: Peripartum cardiomyopathy is a globally occurring disease that should be suspected in women during the peripartum period. The disease has significant maternal and neonatal morbidity and mortality rates, with nearly half of patients experiencing myocardial recovery. Team efforts and expert management are crucial in the diagnosis and treatment of this condition.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Steffany Grondin, Brianna Davies, Julia Cadrin-Tourigny, Christian Steinberg, Christopher C. Cheung, Paloma Jorda, Jeffrey S. Healey, Martin S. Green, Shubhayan Sanatani, Wael Alqarawi, Paul Angaran, Laura Arbour, Pavel Antiperovitch, Habib Khan, Richard Leather, Peter G. Guerra, Lena Rivard, Christopher S. Simpson, Martin Gardner, Ciorsti MacIntyre, Colette Seifer, Anne Fournier, Jacqueline Joza, Michael H. Gollob, Guillaume Lettre, Mario Talajic, Zachary W. Laksman, Jason D. Roberts, Andrew D. Krahn, Rafik Tadros
Summary: Genetic testing identifies disease-causing variants in 10% of survivors of cardiac arrest. The majority of these variants are located in genes associated with cardiomyopathy, highlighting their arrhythmogenic potential in the absence of an overt cardiomyopathy diagnosis. This study supports the use of genetic testing, including assessment of arrhythmia and cardiomyopathy genes, in survivors of cardiac arrest.
EUROPEAN HEART JOURNAL
(2022)
Article
Cardiac & Cardiovascular Systems
Ray E. Hershberger, Jason Cowan, Elizabeth Jordan, Daniel D. Kinnamon
Summary: Insights into the genetic architecture of dilated cardiomyopathy (DCM) are rapidly evolving, showing a complex and diverse nature. In addition to monogenic structures, oligogenic basis, rare variants, low-frequency, and common genetic variations may contribute to the complexity of DCM, along with gene-environment interactions.
CIRCULATION RESEARCH
(2021)
Article
Cardiac & Cardiovascular Systems
Sarah Abou Alaiwi, Thomas M. Roston, Peter Marstrand, Brian Lee Claggett, Victoria N. Parikh, Adam S. Helms, Jodie Ingles, Rachel Lampert, Neal K. Lakdawala, Michelle Michels, Anjali T. Owens, Joseph W. Rossano, Sara Saberi, Dominic J. Abrams, Euan A. Ashley, Christopher Semsarian, John C. Stendahl, James S. Ware, Erin Miller, Thomas D. Ryan, Mark W. Russell, Sharlene M. Day, Iacopo Olivotto, Christoffer R. Vissing, Carolyn Y. Y. Ho
Summary: A study on children diagnosed with hypertrophic cardiomyopathy (HCM) found that they have a higher risk of developing left ventricular systolic dysfunction (LVSD) compared to adult patients. This study highlights the importance of careful surveillance for LVSD in children with HCM, especially during their transition to adult care.
Article
Cardiac & Cardiovascular Systems
Avni Madhani, Natalia Sabogal, Daniel Massillon, Ludwine D. Paul, Carlos Rodriguez, Denise Fine, Stephen Helmke, Morgan Winburn, Damian Kurian, Farbod Raiszadeh, Sergio Teruya, Elizabeth Cohn, Andrew J. Einstein, Edward J. Miller, Lawreen H. Connors, Mathew S. Maurer, Frederick L. Ruberg
Summary: In this study, it was found that 3.4% of self-identified Black individuals carry the V122I variant, and 39% of them exhibit hereditary ATTR-CM. The study also suggests that serum prealbumin concentration may be helpful in diagnosing ATTR-CM in V122I carriers.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Chunyan Wang, Yanghai Zhang, Mei Methawasin, Camila Urbano Braz, Jeffrey Gao-Hu, Betty Yang, Joshua Strom, Jochen Gohlke, Timothy Hacker, Hasan Khatib, Henk Granzier, Wei Guo
Summary: A study found that the RBM20 S639G mutation is associated with dilated cardiomyopathy and early death. By using a knock-in mouse model, researchers showed that this mutation promotes the formation of RBM20 granules in the sarcoplasm and leads to differential expression and splicing of genes related to arrhythmia, cardiomyopathy, and sudden death. Additionally, the knock-in mice exhibited impaired cardiac function.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Yu-Jen Chen, Chian-Shiu Chien, Chern-En Chiang, Chen-Huan Chen, Hao-Min Cheng
Summary: Heart failure is a syndrome caused by various important etiologies, and understanding genetic pathophysiology may lead to new therapies for improving HF prognosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cardiac & Cardiovascular Systems
Hanne M. Boen, Bart L. Loeys, Maaike Alaerts, Johan B. Saenen, Inge Goovaerts, Lut Van Laer, Anne Vorlat, Tom Vermeulen, Constantijn Franssen, Patrick Pauwels, Inez Rodrigus, Hein Heidbuchel, Emeline M. Van Craenenbroeck
Summary: The study investigates the yield and importance of genetic testing in heart transplant patients with non-ischemic cardiomyopathy. The results show that genetic testing in these patients can establish a molecular diagnosis and is recommended for identifying at-risk relatives, regardless of family history or second precipitating factors.
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2022)
Article
Cardiac & Cardiovascular Systems
Edoardo Bertero, Giulia Fracasso, Virginia Eustachi, Domenico Coviello, Massimiliano Cecconi, Stefano Giovinazzo, Matteo Toma, Marco Merlo, Gianfranco Sinagra, Italo Porto, Pietro Ameri, Marco Canepa
Summary: This study aims to assess the diagnostic yield of genetic testing and the relationship between left ventricular reverse remodelling (LVRR) and DNA pathogenic or likely pathogenic variants in patients with dilated cardiomyopathy (DCM). The results showed a diagnostic yield of 24% for genetic testing, and patients without genetic variants had a better LVRR response to guideline-directed medical therapy.
Review
Biochemistry & Molecular Biology
Jiri Bonaventura, Eva Polakova, Veronika Vejtasova, Josef Veselka
Summary: Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with complex genetic basis involving mutations in multiple genes. Patients without pathogenic variants are now believed to have non-Mendelian HCM and may have a better prognosis. Identifying the genetic basis of HCM provides opportunities for understanding disease development and potential interventions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Cardiac & Cardiovascular Systems
Upasana Tayal, James S. Ware, Neal K. Lakdawala, Stephane Heymans, Sanjay K. Prasad
Summary: This review provides a practical primer for clinicians on the genetic basis of dilated cardiomyopathy, including the clinical relevance, key genetic concepts, which patients may benefit from genetic testing, common genetic tests performed, how to interpret genetic results, and the clinical applications. Areas for future research in this dynamic field are also discussed.
EUROPEAN HEART JOURNAL
(2021)
Review
Cardiac & Cardiovascular Systems
Upasana Tayal, James S. Ware, Neal K. Lakdawala, Stephane Heymans, Sanjay K. Prasad
Summary: This review provides a practical primer for clinicians on the genetic basis of dilated cardiomyopathy, introducing key concepts, explaining genetic testing, interpretation of results, and clinical applications, as well as highlighting areas for future research in this field.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
Rakesh K. Singh, Charles E. Canter, Ling Shi, Steven D. Colan, Debra A. Dodd, Melanie D. Everitt, Daphne T. Hsu, John L. Jefferies, Paul F. Kantor, Elfriede Pahl, Joseph W. Rossano, Jeffrey A. Towbin, James D. Wilkinson, Steven E. Lipshultz
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2017)
Meeting Abstract
Cardiac & Cardiovascular Systems
J. F. Goldberg, T. A. Street, X. Yu, J. Wang, J. R. Strelsin, U. S. Boston, J. A. Towbin
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2018)
Article
Cardiac & Cardiovascular Systems
Christopher R. Broda, Antonio G. Cabrera, Joseph W. Rossano, John L. Jefferies, Jeffrey A. Towbin, Clifford Chin, Pirouz Shamszad
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2018)
Meeting Abstract
Cardiac & Cardiovascular Systems
Elfriede Pahl, Stephanie Ware, Ling Shi, Debra Dodd, Steven Colan, James Wilkinson, Arthi Sridhar, Jeffrey Schubert, Charles Canter, Daphne Hsu, Steven A. Webber, Melanie Everitt, Paul Kantor, Linda Addonizio, Joseph Rossano, John L. Jeffries, Wendy Chung, Teresa Lee, Jeffrey Towbin, Paolo Rusconi, Ashwin Lal, Bruce Aronow, Lisa Martin, Erin Miller, Steven Lipshultz
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2018)
Meeting Abstract
Cardiac & Cardiovascular Systems
Karan Karki, Jeffrey Towbin, Camden Harrell, James Tansey, Joseph Krebs, Joseph Smith, William Bigelow, Arun Saini, Sachin Tadphale
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2018)
Article
Cardiac & Cardiovascular Systems
M. Louise Morrison, Corrina McMahon, Riona Tully, Noelle Enright, Ricardo Pignatelli, Jeffrey A. Towbin, Colin J. McMahon
CONGENITAL HEART DISEASE
(2018)
Article
Cardiac & Cardiovascular Systems
Chesney D. Castleberry, John L. Jefferies, Ling Shi, James D. Wilkinson, Jeffrey A. Towbin, Ryan W. Harrison, Joseph W. Rossano, Elfriede Pahl, Teresa M. Lee, Linda J. Addonizio, Melanie D. Everitt, Justin Godown, Joseph Mahgerefteh, Paolo Rusconi, Charles E. Canter, Steven D. Colan, Paul F. Kantor, Hiedy Razoky, Steven E. Lipshultz, Tracie L. Miller
JACC-HEART FAILURE
(2018)
Meeting Abstract
Biochemistry & Molecular Biology
Undral Munkhsaikhsan, Ryan Hiltenbrand, Zaza Khuchua, Lu Lu, Jeffrey A. Towbin, Enkhsaikhan Purevjav
Meeting Abstract
Cardiac & Cardiovascular Systems
Ryan Hiltenbrand, Undral Munkhsaikhan, Lauren Leiden, Lu Lu, Jeffrey A. Towbin, Enkhsaikhan Purevjav
Meeting Abstract
Cardiac & Cardiovascular Systems
Sonya Kirmani, Pamela K. Woodard, Ling Shi, Charles E. Canter, Steven D. Colan, Elfriede Pahl, Jeffrey A. Towbin, Steven A. Webber, Joseph W. Rossano, Melanie D. Everitt, Kimberly M. Molina, Paul F. Kantor, John L. Jefferies, Brian Feingold, Linda J. Addonizio, Stephanie M. Ware, Wendy K. Chung, Jean A. Ballweg, Teresa M. Lee, Hiedy Razoky, Jason D. Czachor, Fatima I. Lunze, Edward Marcus, James D. Wilkinson, Steven E. Lipshultz
Meeting Abstract
Cardiac & Cardiovascular Systems
Sonya Kirmani, Pamela K. Woodard, Ling Shi, Charles E. Canter, Elfriede Pahl, Steven D. Colan, Jeffrey A. Towbin, Steven A. Webber, Joseph W. Rossano, Melanie D. Everitt, Kimberly M. Molina, Paul F. Kantor, John L. Jefferies, Brian Feingold, Linda J. Addonizio, Stephanie M. Ware, Wendy K. Chung, Jean Ballweg, Teresa M. Lee, Jason D. Czachor, Hiedy Razoky, James D. Wilkinson, Steven E. Lipshultz
Meeting Abstract
Cardiac & Cardiovascular Systems
Steven E. Lipshultz, Joseph W. Rossano, Ling Shi, John L. Jefferies, Steven D. Colan, Elfriede Pahl, Melanie D. Everitt, Steven A. Webber, Charles E. Canter, Jeffrey A. Towbin, Paul F. Kantor, Brian Feingold, Linda J. Addonizio, Jacqueline M. Lamour, Stephanie M. Ware, Teresa M. Lee, Jason D. Czachor, Hiedy Razoky, James D. Wilkinson
Meeting Abstract
Cardiac & Cardiovascular Systems
J. W. Rossano, L. J. Addonizio, C. E. Canter, S. D. Colan, D. A. Dodd, M. D. Everitt, B. Harty, D. Hsu, J. L. Jefferies, P. F. Kantor, A. Lal, J. M. Lamour, T. M. Lee, E. Pahl, L. Shi, J. A. Towbin, S. M. Ware, S. A. Webber, J. D. Wilkinson, S. E. Lipshultz
JOURNAL OF HEART AND LUNG TRANSPLANTATION
(2017)
Article
Cardiac & Cardiovascular Systems
Paolo Rusconi, James D. Wilkinson, Lynn A. Sleeper, Minmin Lu, Gerald F. Cox, Jeffrey A. Towbin, Steven D. Colan, Steven A. Webber, Charles E. Canter, Stephanie M. Ware, Daphne T. Hsu, Wendy K. Chung, John L. Jefferies, Christina Cordero, Steven E. Lipshultz
CIRCULATION-HEART FAILURE
(2017)
Article
Genetics & Heredity
Satoko Miyatake, Satomi Mitsuhashi, Yukiko K. Hayashi, Enkhsaikhan Purevjav, Atsuko Nishikawa, Eriko Koshimizu, Mikiya Suzuki, Kana Yatabe, Yuzo Tanaka, Katsuhisa Ogata, Satoshi Kuru, Masaaki Shiina, Yoshinori Tsurusaki, Mitsuko Nakashima, Takeshi Mizuguchi, Noriko Miyake, Hirotomo Saitsu, Kazuhiro Ogata, Mitsuru Kawai, Jeffrey Towbin, Ikuya Nonaka, Ichizo Nishino, Naomichi Matsumoto
AMERICAN JOURNAL OF HUMAN GENETICS
(2017)