Interest

2023 | Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

150 150 sabrina.agostini@uhn.ca

Authors: Rafik Tadros, Sean L. Zheng,  Christopher Grace, Paloma Jordà, Catherine Francis, Sean J. Jurgens, Kate L. Thomson Andrew R. Harper, Elizabeth Ormondroyd, Dominique M. West, Xiao Xu, Pantazis Theotokis, Rachel J. Buchan, Kathryn A. McGurk, Francesco Mazzarotto, Beatrice Boschi, Elisabetta Pelo, Michael Lee, Michela Noseda, Amanda Varnava, Alexa Mc Vermeer, Roddy Walsh, Ahmad S. Amin, Marjon A van Slegtenhorst, Nicole Roslin, Lisa J. Strug, Erika Salvi, Chiara Lanzani, Antonio de Marvao, Hypergenes InterOmics Collaborators, Jason D. Roberts, Maxime Tremblay-Gravel, Genevieve Giraldeau, Julia Cadrin-Tourigny, Philippe L’Allier, Patrick Garceau, Mario Talajic, Yigal Pinto, Harry Rakowski, Antonis Pantazis, John Baksi, Brian P. Halliday, Sanjay K. Prasad, Paul Jr Barton, Declan P. O’Regan, Stuart A. Cook, Rudolf A. de Boer, Imke Christiaans, Michelle Michels, Christopher Kramer, Carolyn Y. Ho, Stefan Neubauer, HCMR Investigators, Paul M. Matthews, Arthur A. Wilde, Jean-Claude Tardif, Iacopo Olivotto, Arnon Adler, Anuj Goel, James S. Ware, Connie R. Bezzina, Hugh Watkins

Short Description: Hypertrophic cardiomyopathy (HCM) is an important cause of morbidity and mortality with both monogenic and polygenic components. We here report results from the largest HCM genome-wide association study (GWAS) and multi-trait analysis (MTAG) including 5,900 HCM cases, 68,359 controls, and 36,083 UK Biobank (UKB) participants with cardiac magnetic resonance (CMR) imaging. We identified a total of 70 loci (50 novel) associated with HCM, and 62 loci (32 novel) as sociated with relevant left ventricular (LV) structural or functional traits. Amongst the common variant HCM loci, we identify a novel HCM disease gene, SVIL, which encodes the actin-binding protein supervillin, showing that rare truncating SVIL variants cause HCM. Mendelian randomization analyses support a causal role of increased LV contractility in both obstructive and non-obstructive forms of HCM, suggesting common disease mechanisms and anticipating shared response to therapy. Taken together, the findings significantly increase our understanding of the genetic basis and molecular mechanisms of HCM, with potential implications for disease management.

Interest: Cardiac Magnetic Resonance Imaging, Cardiac Imaging, Genetics, Genetic Testing, Hypertrophic Cardiomyopathy

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2022 | Clonal haematopoiesis is associated with higher mortality in patients with cardiogenic shock

150 150 sabrina.agostini@uhn.ca

Authors: Fernando L. Scolari,  Sagi Abelson, Darshan H. Brahmbhatt, Sagi Abelson, Jessie J.F. Medeiros, Chun-Po S. Fan, Nicole L. Fung, Vesna Mihajlovic,  Markus S. Anker, Madison Otsuki, Patrick R. Lawler, Heather J. Ross, Adriana C. Luk, Stefan Anker, John E. Dick, Filio Billia

Short Description: Cardiogenic shock (CS) with variable systemic inflammation may be responsible for patient heterogeneity and the exceedingly high mortality rate. Cardiovascular events have been associated with clonal haematopoiesis (CH) where specific gene mutations in haematopoietic stem cells lead to clonal expansion and the development of inflammation. This study aims to assess the prevalence of CH and its association with survival in a population of CS patients in a quaternary centre.

Interest: Cardiogenic Shock, Genomics, Heart Disease, Heart Failure, Molecular Biology

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2022 | Clonal hematopoiesis confers an increased mortality risk in orthotopic heart transplant recipients

150 150 sabrina.agostini@uhn.ca
FIGURE. Survival analysis in orthotopic heart transplantation recipients according to the presence of clonal hematopoiesis gene mutations. CH, clonal hematopoiesis

 

Authors: Fernando L. Scolari; Darshan H. Brahmbhatt; Sagi Abelson; Jessie J. F. Medeiros; Markus S Anker; Nicole L. Fung; Madison Otsuki; Oscar Calvillo-Argüelles; Patrick R. Lawler; Heather J. Ross; Adriana C. Luk; Stefan Anker; John E. Dick; Filio Billia

Short Description: Novel risk stratification and non-invasive surveillance methods are needed in orthotopic heart transplant (OHT) to reduce morbidity and mortality post-transplant. Clonal hematopoiesis (CH) refers to the acquisition of specific gene mutations in hematopoietic stem cells linked to enhanced inflammation and worse cardiovascular outcomes. The purpose of this study was to investigate the association between CH and OHT. Blood samples were collected from 127 OHT recipients. Error-corrected sequencing was used to detect CH-associated mutations. We evaluated the association between CH and acute cellular rejection, CMV infection, cardiac allograft vasculopathy (CAV), malignancies, and survival.

Interest: Genomics, Heart Transplantation, Cardiology, Molecular Biology

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2022 | Clinical Characteristics and Prognostic Importance of Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy

150 150 sabrina.agostini@uhn.ca

Authors: Deacon Z.J. Lee, Mahdi Montazeri, Roxana Bataiousu, , Sara Hoss, Arnon Adler, Elsie T. Nguyen, Harry Rakowski, Raymond H. Chan

Short Description: Left ventricular (LV) apical aneurysms in hypertrophic cardiomyopathy (HCM) are a recognized risk marker for adverse cardiovascular events. There is variable practice among clinicians and discordance between international guidelines regarding treatment recommendations and prognostication for this important phenotype. The authors sought to describe the morphology, clinical course, and risk of adverse events in a large single-center cohort of HCM patients with LV apical aneurysms.

Interest: Cardiac Imaging, Hypertrophic Cardiomyopathy, Medical Imaging

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2022 | Temporal Changes in Cardiac Morphology and Its Relationship with Clinical Characteristics and Outcomes in Patients with Hypertrophic Cardiomyopathy

150 150 sabrina.agostini@uhn.ca

Authors: Manhal Habib, Arnon Adler, Sara Hoss, Kate Hanneman, Olga Katz, Hadeel Halloun Habib, Kimia Fardfini, Harry Rakowski, Raymond H. Chan

Short Description:  In this study, we aimed to assess a large cohort of nonapical hypertrophic cardiomyopathy (HC) patients who have undergone 2 serial cardiac magnetic resonance studies to examine morphological dynamics and their correlation to patient characteristics and clinical outcomes. A total of 214 patients with nonapical HC were enrolled in this study, with 2 sequential cardiac magnetic resonance studies separated by a mean interval of 4.8 ± 2.1 years.

Interest: Hypertrophic Cardiomyopathy

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2022 | Importance of newer cardiac magnetic resonance–based risk markers for sudden death prevention in hypertrophic cardiomyopathy: An international multicenter study

150 150 sabrina.agostini@uhn.ca

 

Authors: Ethan J. Rowin, Martin S. Maron, Arnon Adler, Alfred J. Albano, Armanda M. Varnava, Danna Spears, Dana Marsy, Stephen B. Heitner, Emilie Cohen, Kevin M.W. Leong, Stephen L. Winters, Matthew W. Martinez, Benjamin C. Koethe, Harry Rakowski, Barry J. Maron

Short Description: The sudden death (SD) risk stratification algorithm in hypertrophic cardiomyopathy (HCM) has evolved, underscored recently by novel cardiac magnetic resonance (CMR)–based risk markers (left ventricular apical aneurysm, extensive late gadolinium enhancement, and end-stage disease with systolic dysfunction) incorporated into the 2020 American Heart Association (AHA)/American College of Cardiology (ACC) HCM guidelines. The purpose of this study was to assess the specific impact of newer, predominantly CMR-based risk markers in a large multicenter HCM population that underwent primary prevention implantable cardioverter-defibrillator (ICD) implants.

Interest: Cardiac Imaging, Cardiac Magnetic Resonance Imaging, Hypertrophic Cardiomyopathy, Medical Imaging, Risk Stratification, Sudden Death

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2022 | Cardiovascular Signatures of COVID-19 Predict Mortality and Identify Barrier Stabilizing Therapies

150 150 admpmccbiobank

Authors: Dakota Gustafson, Michelle Ngai, Ruilin Wu, Huayun Hou, Alice Schoffel, Clara Erice, Serena Mandla, Filio Billia, Michael D. Wilson, Milica Radisic, Eddy Fan, Uriel Trahtemberg, Andrew Baker, Chris McIntosh, Chun-Po S. Fan, Claudia C. dos Santons, Kevin C. Kain, Kate Hanneman, Paaladinesh Thavendiranathan, Jason E. Fish, Kathryn L. Howe

Short Description: Endothelial cell (EC) activation, endotheliitis, vascular permeability, and thrombosis have been observed in patients with severe COVID-19, indicating that the vasculature is affected during the acute stages of SARS-CoV-2 infection. Results from this study indicated that multiple inflammatory and EC activation biomarkers were associated with mortality in COVID-19 patients and in severity-matched SARS-CoV-2-negative patients, while dysregulation of specific microRNAs at presentation was specific for poor COVID-19-related outcomes and revealed disease-relevant pathways.

Interest: COVID-19, Respiratory Disease, Stroke and Cardiovascular, Vascular

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2022 | Combined Cardiac Fluorodeoxyglucose-Positron Emission Tomography/Magnetic Resonance Imaging Assessment of Myocardial Injury in Patients Who Recently Recovered From COVID-19

150 150 admpmccbiobank

Authors: Kate Hanneman, Christian Houbois, Alice Schoffel, Dakota Gustafson, Robert M. Iwanochko, Bernd J. Wintersperger, Rosanna Chan, Jason E. Fish, Kathryn L. Howe, Paaladinesh Thavendiranathan

Short Description: There is limited understanding of changes with myocardial metabolism in patients who have recovered from acute COVID-19. In this paper, we examine myocardial metabolic changes early after recovery from COVID-19 using fluorodeoxyglucose-positron emission tomography (PET) and associate these changes to abnormalities in cardiac magnetic resonance imaging (MRI)-based function and tissue characterization measures and inflammatory blood markers.

Interest: Cardiac Imaging, COVID-19, Medical Imaging, Myocardial Injury, Respiratory Disease

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2021 | Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy: Equivalent Detection by Magnetic Resonance Imaging and Contrast Echocardiography

150 150 sabrina.agostini@uhn.ca

Authors: Deacon Z.J. Lee, Raymond H. Chan, Mahdi Montazeri, Sara Hoss, Arnon Adler, Elsie T. Nguyen, Harry Rakowski 

Short Description: Left ventricular (LV) apical aneurysm is a unique morphological entity and novel adverse risk marker existing within the broad phenotypic spectrum of hypertrophic cardiomyopathy (HCM). Its true prevalence in the HCM population is likely underestimated because of inherent limitations of conventional noncontrast echocardiography. The authors hypothesized that contrast echocardiography is a reliable imaging technique compared with cardiovascular magnetic resonance (CMR) for the detection of apical aneurysms. The aim of this study was to assess the effectiveness of contrast echocardiography in the detection of LV apical aneurysms in patients with HCM in comparison with the gold standard, CMR.

Interest: Cardiac Imaging, Cardiac Magnetic Resonance Imaging, Hypertrophic Cardiomyopathy, Left Ventricular Apical Aneurysm, Medical Imaging

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2021 | Development and Validation of a Clinical Predictive Model for Identifying Hypertrophic Cardiomyopathy Patients at Risk for Atrial Fibrillation: The HCM-AF Score

150 150 sabrina.agostini@uhn.ca

Authors: Richard T. Carrick, Martin S. Maron, Arnon Adler, Benjamin Wessler, Sara Hoss, Raymond H. Chan, Aadhavi Sridharan, Dou Huang, Craig Cooper, Jennifer Drummond, Harry Rakowski, Barry J. Maron, Ethan J. Rowin

Short Description: Atrial fibrillation (AF) is the most common sustained arrhythmia in hypertrophic cardiomyopathy (HCM), associated with impaired quality of life, risk for embolic stroke, and unpredictable onset. We sought to create a predictive model to identify risk for AF development in HCM.

Interest: Atrial Fibrillation, Hypertrophic Cardiomyopathy

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