Review
Cardiac & Cardiovascular Systems
Barry J. Maron, Milind Y. Desai, Rick A. Nishimura, Paolo Spirito, Harry Rakowski, Jeffrey A. Towbin, Ethan J. Rowin, Martin S. Maron, Mark Sherrid
Summary: Hypertrophic cardiomyopathy (HCM) is a common global heart disease with complex phenotypic and genetic expression. Improvements in management strategies have led to better clinical outcomes. Reliable diagnosis with echocardiography and cardiac magnetic resonance, along with family screening and genetic analysis, play important roles in identifying patients and carriers.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Review
Cardiac & Cardiovascular Systems
Minh B. Nguyen, Seema Mital, Luc Mertens, Aamir Jeewa, Mark K. Friedberg, Julien Aguet, Arnon Adler, Christopher Z. Lam, Andreea Dragulescu, Harry Rakowski, Olivier Villemain
Summary: This review examines the association between genetic variations and outcomes in pediatric hypertrophic cardiomyopathy (HCM), discussing current approaches to phenotyping cardiovascular characteristics and exploring potential avenues for improving risk assessment of sudden cardiac death in children with HCM.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Angelo de la Rosa, Maulin Shah, Takahiro Shiota, Robert Siegel, Florian Rader
Summary: Compared to hypertensive LVH, gene-positive HCM is characterized by more severe diastolic dysfunction and larger LA size. Gene-positive HCM patients with concomitant HTN exhibit greater LV mass, more severe LVH, and more abnormal GLS, suggesting that HTN may negatively impact the progression of myocardial dysfunction in genetic HCM. LVH out-of-proportion to pressure burden in HTN patients should raise suspicion of underlying genetic HCM.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Medicine, General & Internal
Barry J. Maron, Ethan J. Rowin, Shray P. Ambe, Martin S. Maron
Summary: This study found that patients with hypertrophic cardiomyopathy are now older and more likely to have outflow obstruction compared to previous years. However, the maximum left ventricular wall thickness has decreased. These observations may impact disease recognition and diagnostic criteria.
AMERICAN JOURNAL OF MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger
Summary: A systematic curation of 51 genes related to DCM revealed that 19 genes have high evidence (12 definitive/strong, 7 moderate), but these genes only explain a minority of cases, leaving the remainder of DCM genetic architecture incompletely addressed.
Article
Cardiac & Cardiovascular Systems
Roy Huurman, Nikki van der Velde, Arend F. L. Schinkel, H. Carlijne Hassing, Ricardo P. J. Budde, Marjon A. van Slegtenhorst, Judith Ma Verhagen, Alexander Hirsch, Michelle Michels
Summary: This study investigated the value of cardiovascular magnetic resonance (CMR) in phenotyping of relatives of hypertrophic cardiomyopathy (HCM) patients. The results showed that CMR reclassified 27% of the subjects, while normal electrocardiography (ECG) and transthoracic echocardiography (TTE) results almost excluded reclassifications by CMR.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2022)
Article
Cardiac & Cardiovascular Systems
Quan M. Bui, Kimberly N. Hong, Megan Kraushaar, Gary S. Ma, Michela Brambatti, Andrew M. Kahn, Carol Elias Battiha, Kylie Boynton, Garrett Storm, Luisa Mestroni, Matthew R. G. Taylor, Anthony N. DeMaria, Eric A. Adler
Summary: In this study, global longitudinal strain may be a useful assessment of myocardial function and predict clinical outcomes in patients with Danon disease. This highlights the potential use of myocardial strain phenotyping to monitor disease progression and predict clinical outcomes in genetic cardiomyopathies.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Marianne Forsa, Marit K. Smedsrud, Kristina H. Haugaa, Anders W. Bjerring, Andreas Fruh, Sebastian Sarvari, Hege W. Landgraff, Jostein Hallen, Thor Edvardsen
Summary: This study compared left ventricular (LV) hypertrophy in early adolescent athletes and hypertrophic cardiomyopathy (HCM) genotype positive patients. The results showed that LV hypertrophy was found in a similar proportion in both groups, but only HCM genotype positive patients showed progression of hypertrophy. The study also identified a potential grey zone of LV hypertrophy with septum thickness Z-scores ranging from 2.0 to 3.3. LV volumes remained larger in athletes. These findings can help clinicians distinguish physiological LV hypertrophy from early HCM.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Jose Luiz Barros Pena, Wander Costa Santos, Maria Helena Albernaz Siqueira, Isaac Hermes Sampaio, Isabel Cristina Gomes Moura, Eduardo Back Sternick
Summary: This study examined 30 patients with PRKAG2 cardiomyopathy and found that cardiac hypertrophy, low ejection fraction, and abnormal diastolic function were common in these patients. Analysis of speckle tracking strain showed that patients using pacemakers had significantly lower ejection fraction and global circumferential strain.
EUROPEAN HEART JOURNAL-CARDIOVASCULAR IMAGING
(2021)
Article
Cardiac & Cardiovascular Systems
Shuchi Guo, Ama Dedo Okyere, Erin McEachern, Joshua L. Strong, Rhonda L. Carter, Viren C. Patwa, Toby P. Thomas, Melissa Landy, Jianliang Song, Ana Maria Lucchese, Thomas G. Martin, Erhe Gao, Sudarsan Rajan, Jonathan A. Kirk, Walter J. Koch, Joseph Y. Cheung, Douglas G. Tilley
Summary: This study demonstrates the importance of EGFR in maintaining contractile homeostasis in the adult heart under physiological conditions, highlighting the role of PR72 expression regulation in this process.
CARDIOVASCULAR RESEARCH
(2022)
Article
Cardiac & Cardiovascular Systems
Rebecca K. Hughes, Claudia Camaioni, Joao B. Augusto, Kristopher Knott, Ellie Quinn, Gabriella Captur, Andreas Seraphim, George Joy, Petros Syrris, Perry M. Elliott, Saidi Mohiddin, Peter Kellman, Hui Xue, Luis R. Lopes, James C. Moon
Summary: This study revealed that regional and global impaired myocardial perfusion can occur in HCM mutation carriers, even in the absence of significant hypertrophy or scarring.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
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
Cardiac & Cardiovascular Systems
Mark Hofmeyer, Garrie J. Haas, Elizabeth Jordan, Jinwen Cao, Evan Kransdorf, Gregory A. Ewald, Alanna A. Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W. H. Wilson Tang, Sonia Garg, Barry H. Trachtenberg, Palak Shah, Salpy V. Pamboukian, Nancy K. Sweitzer, Matthew T. Wheeler, Jane E. Wilcox, Stuart Katz, Stephen Pan, Javier Jimenez, Frank Smart, Jessica Wang, Stephen S. Gottlieb, Daniel P. Judge, Charles K. Moore, Gordon S. Huggins, Daniel D. Kinnamon, Hanyu Ni, Ray E. Hershberger
Summary: Advanced dilated cardiomyopathy (DCM) is associated with a higher probability of pathogenic or likely pathogenic rare variants in DCM genes, which can help assess the risk of outcomes in managing DCM patients and their at-risk family members.
Article
Genetics & Heredity
Adam Waring, Andrew Harper, Silvia Salatino, Christopher Kramer, Stefan Neubauer, Kate Thomson, Hugh Watkins, Martin Farrall
Summary: This study introduces methods for gene association and variant interpretation that detect clustering of rare missense variants in Mendelian disease genes, which can enhance disease-gene discovery. The statistical methods presented in this study are more powerful and computationally faster than alternative methods, and can effectively integrate ACMG criteria to provide strong evidence of pathogenicity for variants of uncertain significance.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Cardiac & Cardiovascular Systems
Luis R. Lopes, Soledad Garcia-Hernandez, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Marti, Maria Teresa Basurte Elorz, Alicia Bautista Paves, Juan Ramon Gimeno, Ana Virginia Figueroa, Raul Franco-Gutierrez, Maria Eugenia Fuentes-Canamero, Marina Martinez Moreno, Martin Ortiz-Genga, Jesus Piqueras-Flores, Karina Analia Ramos, Ainars Rudzitis, Luis Ruiz-Guerrero, Ricardo Stein, Mayte Triguero-Bocharan, Luis de la Higuera, Juan Pablo Ochoa, Dad Abu-Bonsrah, Cecilia Y. T. Kwok, Jacob B. Smith, Enzo R. Porrello, Mohammed M. Akhtar, Joanna Jager, Michael Ashworth, Petros Syrris, David A. Elliott, Lorenzo Monserrat, Perry M. Elliott
Summary: The study identified a low but pathogenic frequency of heterozygous ALPK3tv in patients with HCM, which was confirmed through family co segregation studies. ALPK3tv carriers exhibited a characteristic HCM phenotype, showing different clinical and imaging features compared to patients with sarcomere gene variants.
EUROPEAN HEART JOURNAL
(2021)
Article
Cardiac & Cardiovascular Systems
E. RosalieWitjas-Paalberends, Ahmet Guclu, Tjeerd Germans, Paul Knaapen, Hendrik J. Harms, Alexa M. C. Vermeer, Imke Christiaans, Arthur A. M. Wilde, Cris Dos Remedios, Adriaan A. Lammertsma, Albert C. van Rossum, Ger J. M. Stienen, Marjon van Slegtenhorst, Arend F. Schinkel, Michelle Michels, Carolyn Y. Ho, Corrado Poggesi, Jolanda van der Velden
CARDIOVASCULAR RESEARCH
(2014)
Article
Cardiac & Cardiovascular Systems
Gabriella Captur, Luis R. Lopes, Timothy J. Mohun, Vimal Patel, Chunming Li, Paul Bassett, Gherardo Finocchiaro, Vanessa M. Ferreira, Maite Tome Esteban, Vivek Muthurangu, Mark V. Sherrid, Sharlene M. Day, Charles E. Canter, William J. McKenna, Christine E. Seidman, David A. Bluemke, Perry M. Elliott, Carolyn Y. Ho, James C. Moon
CIRCULATION-CARDIOVASCULAR IMAGING
(2014)
Review
Cell Biology
Corrado Poggesi, Carolyn Y. Ho
JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY
(2014)
Article
Neurosciences
E. Rosalie Witjas-Paalberends, Claudia Ferrara, Beatrice Scellini, Nicoletta Piroddi, Judith Montag, Chiara Tesi, Ger J. M. Stienen, Michelle Michels, Carolyn Y. Ho, Theresia Kraft, Corrado Poggesi, Jolanda van der Velden
JOURNAL OF PHYSIOLOGY-LONDON
(2014)
Article
Medicine, Research & Experimental
Jason L. Vassy, Denise M. Lautenbach, Heather M. McLaughlin, Sek Won Kong, Kurt D. Christensen, Joel Krier, Isaac S. Kohane, Lindsay Z. Feuerman, Jennifer Blumenthal-Barby, J. Scott Roberts, Lisa Soleymani Lehmann, Carolyn Y. Ho, Peter A. Ubel, Calum A. MacRae, Christine E. Seidman, Michael F. Murray, Amy L. McGuire, Heidi L. Rehm, Robert C. Green
Editorial Material
Cardiac & Cardiovascular Systems
Christopher Semsarian, Carolyn Y. Ho
EUROPEAN HEART JOURNAL
(2019)
Article
Cardiac & Cardiovascular Systems
Carolyn Y. Ho, Iacopo Olivotto, Daniel Jacoby, Steven J. Lester, Matthew Roe, Andrew Wang, Cynthia Burstein Waldman, David Zhang, Amy J. Sehnert, Stephen B. Heitner
CIRCULATION-HEART FAILURE
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Carolyn Y. Ho
Article
Multidisciplinary Sciences
Giuliana G. Repetti, Yuri Kim, Alexandre C. Pereira, Jodie Ingles, Mark W. Russell, Neal K. Lakdawala, Carolyn Y. Ho, Sharlene Day, Christopher Semsarian, Barbara McDonough, Steven R. DePalma, Daniel Quiat, Eric M. Green, Christine E. Seidman, J. G. Seidman
Summary: The clinical expression of hypertrophic cardiomyopathy (HCM) is influenced by background genetic variation and environmental factors. A study of 11 pairs of monozygotic HCM twins showed discordant cardiac morphology even among twins with the same pathogenic variant, indicating a significant role for epigenetics and environment in HCM disease progression. Whole genome sequencing analysis did not reveal notable somatic genetic variants to explain the clinical differences in the twins.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Carolyn Y. Ho, Sharlene M. Day, Anna Axelsson, Mark W. Russell, Kenneth Zahka, Harry M. Lever, Alexandre C. Pereira, Steven D. Colan, Renee Margossian, Anne M. Murphy, Charles Canter, Richard G. Bach, Matthew T. Wheeler, Joseph W. Rossano, Anjali T. Owens, Henning Bundgaard, Lee Benson, Luisa Mestroni, Matthew R. G. Taylor, Amit R. Patel, Ivan Wilmot, Philip Thrush, Jose D. Vargas, Jonathan H. Soslow, Jason R. Becker, Christine E. Seidman, Neal K. Lakdawala, Allison L. Cirino, Kristin M. Burns, John J. V. McMurray, Calum A. MacRae, Scott D. Solomon, E. John Orav, Eugene Braunwald
Summary: In a randomized phase 2 clinical trial, the angiotensin receptor blocker valsartan showed promising results in improving cardiac structure and function in patients with early-stage hypertrophic cardiomyopathy, suggesting a potential safe and accessible treatment option to attenuate disease progression.
Review
Cardiac & Cardiovascular Systems
Alessia Argiro, Carolyn Ho, Sharlene M. Day, Jolanda van der Velden, Elisabetta Cerbai, Sara Saberi, Jil C. Tardiff, Neal K. Lakdawala, Iacopo Olivotto
Summary: Cardiomyopathies are diseases characterized by primary functional and structural abnormalities of the heart muscle. The most effective classification is based on the presenting phenotype. Sex modulates the prevalence, clinical manifestations, and course of cardiomyopathies. Differences in ion channel expression and left ventricular remodeling exist between male and female patients. Societal and environmental factors may also contribute to clinical differences between sexes.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Nay Aung, Luis R. Lopes, Stefan van Duijvenboden, Andrew R. Harper, Anuj Goel, Christopher Grace, Carolyn Y. Ho, William S. Weintraub, Christopher M. Kramer, Stefan Neubauer, Hugh C. Watkins, Steffen E. Petersen, Patricia B. Munroe
Summary: This study discovered 21 genetic loci associated with left ventricular maximum wall thickness (LVMWT), a biomarker for left ventricular hypertrophy. These loci have known functional roles in myocardial growth and sarcomere organization. The study also found that the genetic risk score for LVMWT is predictive of hypertrophic cardiomyopathy (HCM).
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Carmen C. Sucharov, Bonnie Neltner, Ashley E. Pietra, Anis Karimpour-Fard, Joshen Patel, Carolyn Y. Ho, Shelley D. Miyamoto
Summary: In this study, the researchers investigated whether circulating miRNAs could stratify the disease stage in sarcomeric HCM. The results showed that circulating miRNAs can differentiate healthy controls from HCM patients and differentiate clinical HCM from subclinical HCM. These findings have implications for improving the diagnosis of HCM and understanding the mechanisms underlying disease progression.
CIRCULATION-HEART FAILURE
(2023)
Review
Cardiac & Cardiovascular Systems
Wendy K. Chung, Carolyn Ho, Teresa Lee, Christine E. Seidman, Stephanie M. Ware
PROGRESS IN PEDIATRIC CARDIOLOGY
(2018)
Article
Cardiac & Cardiovascular Systems
Carolyn Y. Ho, John J. V. McMurray, Allison L. Cirino, Steven D. Colan, Sharlene M. Day, Akshay S. Desai, Steven E. Lipshultz, Callum A. MacRae, Ling Shi, Scott D. Solomon, E. John Orav, Eugene Braunwald
AMERICAN HEART JOURNAL
(2017)