Search

Your search keyword '"Hamilton, Robert M."' showing total 552 results
Start Over Author "Hamilton, Robert M."
552 results on '"Hamilton, Robert M."'

2. Impact of Fontan Fenestration on Adverse Cardiovascular Outcomes: A Multicentre Study

Author

Dib, Nabil, Samuel, Michelle, Levesque, Sylvie, Zaidi, Ali, Cohen, Sarah, Opotowsky, Alexander R., Mongeon, François-Pierre, Mondésert, Blandine, Kay, Joseph, Ibrahim, Reda, Hamilton, Robert M., Fournier, Anne, Jameson, Susan M., Dore, Annie, Cook, Stephen C., Cohen, Scott, Chaix, Marie-A., Broberg, Craig S., Aboulhosn, Jamil, Poirier, Nancy, and Khairy, Paul

Published
2024
Full Text
View/download PDF

3. The use of 2-D speckle tracking echocardiography in differentiating healthy adolescent athletes with right ventricular outflow tract dilation from patients with arrhythmogenic cardiomyopathy

Author

Dorobantu, Dan M., Riding, Nathan, McClean, Gavin, de la Garza, María-Sanz, Abuli-Lluch, Marc, Sharma, Chetanya, Duarte, Nuno, Adamuz, Maria Carmen, Watt, Victoria, Hamilton, Robert M., Ryding, Diane, Perry, Dave, McNally, Steve, Stuart, A. Graham, Sitges, Marta, Oxborough, David L., Wilson, Mathew, Friedberg, Mark K., Williams, Craig A., and Pieles, Guido E.

Published
2023
Full Text
View/download PDF

4. An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia

Author

Ng, Kevin, Titus, Erron W, Lieve, Krystien V, Roston, Thomas M, Mazzanti, Andrea, Deiter, Frederick H, Denjoy, Isabelle, Ingles, Jodie, Till, Jan, Robyns, Tomas, Connors, Sean P, Steinberg, Christian, Abrams, Dominic J, Pang, Benjamin, Scheinman, Melvin M, Bos, J Martijn, Duffett, Stephen A, van der Werf, Christian, Maltret, Alice, Green, Martin S, Rutberg, Julie, Balaji, Seshadri, Cadrin-Tourigny, Julia, Orland, Kate M, Knight, Linda M, Brateng, Caitlin, Wu, Jeremy, Tang, Anthony S, Skanes, Allan C, Manlucu, Jaimie, Healey, Jeff S, January, Craig T, Krahn, Andrew D, Collins, Kathryn K, Maginot, Kathleen R, Fischbach, Peter, Etheridge, Susan P, Eckhardt, Lee L, Hamilton, Robert M, Ackerman, Michael J, Noguer, Ferran Rosés I, Semsarian, Christopher, Jura, Natalia, Leenhardt, Antoine, Gollob, Michael H, Priori, Silvia G, Sanatani, Shubhayan, Wilde, Arthur AM, Deo, Rahul C, and Roberts, Jason D

Subjects
Clinical Research, Cardiovascular, Genetics, Heart Disease, Aetiology, 2.1 Biological and endogenous factors, Calsequestrin, Female, Heterozygote, Homozygote, Humans, Male, Mutation, Missense, Risk Factors, Tachycardia, Ventricular, arrhythmias, cardiac, catecholaminergic polymorphic ventricular tachycardia, death, sudden, genetics, arrhythmias, cardiac, death, sudden, cardiac, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology
Abstract

BackgroundGenetic variants in calsequestrin-2 (CASQ2) cause an autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), although isolated reports have identified arrhythmic phenotypes among heterozygotes. Improved insight into the inheritance patterns, arrhythmic risks, and molecular mechanisms of CASQ2-CPVT was sought through an international multicenter collaboration.MethodsGenotype-phenotype segregation in CASQ2-CPVT families was assessed, and the impact of genotype on arrhythmic risk was evaluated using Cox regression models. Putative dominant CASQ2 missense variants and the established recessive CASQ2-p.R33Q variant were evaluated using oligomerization assays and their locations mapped to a recent CASQ2 filament structure.ResultsA total of 112 individuals, including 36 CPVT probands (24 homozygotes/compound heterozygotes and 12 heterozygotes) and 76 family members possessing at least 1 presumed pathogenic CASQ2 variant, were identified. Among CASQ2 homozygotes and compound heterozygotes, clinical penetrance was 97.1% and 26 of 34 (76.5%) individuals had experienced a potentially fatal arrhythmic event with a median age of onset of 7 years (95% CI, 6-11). Fifty-one of 66 CASQ2 heterozygous family members had undergone clinical evaluation, and 17 of 51 (33.3%) met diagnostic criteria for CPVT. Relative to CASQ2 heterozygotes, CASQ2 homozygote/compound heterozygote genotype status in probands was associated with a 3.2-fold (95% CI, 1.3-8.0; P=0.013) increased hazard of a composite of cardiac syncope, aborted cardiac arrest, and sudden cardiac death, but a 38.8-fold (95% CI, 5.6-269.1; P

Published
2020

5. Tmem65 is critical for the structure and function of the intercalated discs in mouse hearts

Author

Teng, Allen C. T., Gu, Liyang, Di Paola, Michelle, Lakin, Robert, Williams, Zachary J., Au, Aaron, Chen, Wenliang, Callaghan, Neal I., Zadeh, Farigol Hakem, Zhou, Yu-Qing, Fatah, Meena, Chatterjee, Diptendu, Jourdan, L. Jane, Liu, Jack, Simmons, Craig A., Kislinger, Thomas, Yip, Christopher M., Backx, Peter H., Gourdie, Robert G., Hamilton, Robert M., and Gramolini, Anthony O.

Published
2022
Full Text
View/download PDF

6. Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy

Author

Roberts, Jason D, Murphy, Nathaniel P, Hamilton, Robert M, Lubbers, Ellen R, James, Cynthia A, Kline, Crystal F, Gollob, Michael H, Krahn, Andrew D, Sturm, Amy C, Musa, Hassan, El-Refaey, Mona, Koenig, Sara, Aneq, Meriam Åström, Hoorntje, Edgar T, Graw, Sharon L, Davies, Robert W, Rafiq, Muhammad Arshad, Koopmann, Tamara T, Aafaqi, Shabana, Fatah, Meena, Chiasson, David A, Taylor, Matthew RG, Simmons, Samantha L, Han, Mei, van Opbergen, Chantal JM, Wold, Loren E, Sinagra, Gianfranco, Mittal, Kirti, Tichnell, Crystal, Murray, Brittney, Codima, Alberto, Nazer, Babak, Nguyen, Duy T, Marcus, Frank I, Sobriera, Nara, Lodder, Elisabeth M, van den Berg, Maarten P, Spears, Danna A, Robinson, John F, Ursell, Philip C, Green, Anna K, Skanes, Allan C, Tang, Anthony S, Gardner, Martin J, Hegele, Robert A, van Veen, Toon AB, Wilde, Arthur AM, Healey, Jeff S, Janssen, Paul ML, Mestroni, Luisa, van Tintelen, J Peter, Calkins, Hugh, Judge, Daniel P, Hund, Thomas J, Scheinman, Melvin M, and Mohler, Peter J

Subjects
Heart Disease, Cardiovascular, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Animals, Ankyrins, Arrhythmogenic Right Ventricular Dysplasia, Disease Models, Animal, Female, Humans, Indoles, Male, Maleimides, Mice, Mice, Knockout, Myocardium, Wnt Signaling Pathway, beta Catenin, Arrhythmias, Cardiology, Cardiovascular disease, Cell Biology, Genetic diseases, Medical and Health Sciences, Immunology
Abstract

Arrhythmogenic cardiomyopathy (ACM) is an inherited arrhythmia syndrome characterized by severe structural and electrical cardiac phenotypes, including myocardial fibrofatty replacement and sudden cardiac death. Clinical management of ACM is largely palliative, owing to an absence of therapies that target its underlying pathophysiology, which stems partially from our limited insight into the condition. Following identification of deceased ACM probands possessing ANK2 rare variants and evidence of ankyrin-B loss of function on cardiac tissue analysis, an ANK2 mouse model was found to develop dramatic structural abnormalities reflective of human ACM, including biventricular dilation, reduced ejection fraction, cardiac fibrosis, and premature death. Desmosomal structure and function appeared preserved in diseased human and murine specimens in the presence of markedly abnormal β-catenin expression and patterning, leading to identification of a previously unknown interaction between ankyrin-B and β-catenin. A pharmacological activator of the WNT/β-catenin pathway, SB-216763, successfully prevented and partially reversed the murine ACM phenotypes. Our findings introduce what we believe to be a new pathway for ACM, a role of ankyrin-B in cardiac structure and signaling, a molecular link between ankyrin-B and β-catenin, and evidence for targeted activation of the WNT/β-catenin pathway as a potential treatment for this disease.

Published
2019

7. Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

Author

Pham, Caroline, Koopmann, Tamara T., Vinocur, Jeffrey M., Blom, Nico A., Nogueira Silbiger, Vivian, Mittal, Kirti, Bootsma, Marianne, Palm, Kaylin C. A., Clur, Sally‐Ann B., Barge‐Schaapveld, Daniela Q. C. M., Hamilton, Robert M., and Lodder, Elisabeth M.

Subjects
TACHYCARDIA, HIS bundle, MISSENSE mutation, DILATED cardiomyopathy, GENETIC variation, ARRHYTHMIA
Abstract

Genetic missense variants in TNNI3K, encoding troponin‐I interacting kinase, have been associated with dilated cardiomyopathy (DCM) and observed in families with supraventricular tachycardias (SVT). Previously, a family harboring the TNNI3K‐c.1615A > G (p.Thr539Ala) variant presented with congenital junctional ectopic tachycardia (CJET), an arrhythmia that arises from the atrioventricular (AV) node and His bundle. However, this was a relatively small four‐generational family with limited genetic testing (N = 3). We here describe a multigenerational family with CJET harboring a novel ultra‐rare TNNI3K variant: TNNI3K‐c.1729C > T (p.Leu577Phe). Of all 18 variant carriers, 13 individuals presented with CJET, resulting in a genetic penetrance of 72%. In addition, CJET is reported in another small family harboring TNNI3K‐c.2225C > T (p.Pro742Leu). Similar to the previously published CJET family, both TNNI3K variants demonstrate a substantial reduction of kinase activity. Our study contributes novel evidence supporting the involvement of TNNI3K genetic variants as significant contributors to CJET, shedding light on potential mechanisms underlying this cardiac arrhythmia. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

8. The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.

Author

Roston, Thomas M, Yuchi, Zhiguang, Kannankeril, Prince J, Hathaway, Julie, Vinocur, Jeffrey M, Etheridge, Susan P, Potts, James E, Maginot, Kathleen R, Salerno, Jack C, Cohen, Mitchell I, Hamilton, Robert M, Pflaumer, Andreas, Mohammed, Saira, Kimlicka, Lynn, Kanter, Ronald J, LaPage, Martin J, Collins, Kathryn K, Gebauer, Roman A, Temple, Joel D, Batra, Anjan S, Erickson, Christopher, Miszczak-Knecht, Maria, Kubuš, Peter, Bar-Cohen, Yaniv, Kantoch, Michal, Thomas, Vincent C, Hessling, Gabriele, Anderson, Chris, Young, Ming-Lon, Choi, Sally HJ, Cabrera Ortega, Michel, Lau, Yung R, Johnsrude, Christopher L, Fournier, Anne, Van Petegem, Filip, and Sanatani, Shubhayan

Subjects
Cardiovascular, Heart Disease, Pediatric, Clinical Research, Genetics, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Calsequestrin, Child, DNA Mutational Analysis, Death, Sudden, Cardiac, Female, Genetic Markers, Genetic Predisposition to Disease, Heredity, Humans, Male, Models, Molecular, Mutation, Pedigree, Phenotype, Prognosis, Protein Conformation, Registries, Retrospective Studies, Risk Factors, Ryanodine Receptor Calcium Release Channel, Structure-Activity Relationship, Tachycardia, Ventricular, Catecholaminergic polymorphic, Ventricular tachycardia, RyR2, Arrhythmia, Sudden unexpected death, Clinical Sciences, Cardiovascular System & Hematology
Abstract

AimsCatecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes.Methods and resultsThis is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at

Published
2018

9. Impact of Fontan fenestration on adverse cardiovascular outcomes: a multicenter study

Author

Nabil, Dib, primary, Samuel, Michelle, additional, Levesque, Sylvie, additional, Zaidi, Ali, additional, Cohen, Sarah, additional, Opotowsky, Alexander R., additional, Mongeon, François-Pierre, additional, Mondésert, Blandine, additional, Kay, Joseph, additional, Ibrahim, Reda, additional, Hamilton, Robert M., additional, Fournier, Anne, additional, Jameson, Susan M., additional, Dore, Annie, additional, Cook, Stephen C., additional, Cohen, Scott, additional, Chaix, Marie-A, additional, Broberg, Craig S., additional, Aboulhosn, Jamil, additional, Poirier, Nancy, additional, and Khairy, Paul, additional

Published
2024
Full Text
View/download PDF

10. Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Author

Aschner, Amir, Keller, Anne, Williams, Andrew, Whitney, Robyn, Cunningham, Kris, Hamilton, Robert M., Pollanen, Michael, and Donner, Elizabeth

Subjects
EPILEPSY, ARRHYTHMIA, GENETIC variation, SUDDEN death, NUCLEOTIDE sequencing, CARDIAC arrest, VAGAL tone
Abstract

Introduction: Sudden Unexpected Death in Epilepsy (SUDEP) is the leading epilepsy-related cause of death, affecting approximately 1 per 1,000 individuals with epilepsy per year. Genetic variants that affect autonomic function, such as genes associated with cardiac arrhythmias, may predispose people with epilepsy to greater risk of both sudden cardiac death and SUDEP. Advances in next generation sequencing allow for the exploration of gene variants as potential biomarkers. Methods: Genetic testing for the presence of cardiac arrhythmia and epilepsy gene variants was performed via genetic panels in 39 cases of SUDEP identified via autopsy by the Ontario Forensic Pathology Service. Variants were summarized by in-silico evidence for pathogenicity from 4 algorithms (SIFT, PolyPhen-2, PROVEAN, Mutation Taster) and allele frequencies in the general population (GnomAD). A maximum credible population allele frequency of 0.00004 was calculated based on epilepsy prevalence and SUDEP incidence to assess whether a variant was compatible with a pathogenic interpretation. Results: Median age at the time of death was 33.3years (range: 2, 60). Fifty-nine percent (n=23) were male. Gene panels detected 62 unique variants in 45 genes: 19 on the arrhythmia panel and 26 on the epilepsy panel. At least one variant was identified in 28 (72%) of decedents. Missense mutations comprised 57 (92%) of the observed variants. At least three in silico models predicted 12 (46%) cardiac arrhythmia panel missense variants and 20 (65%) epilepsy panel missense variants were pathogenic. Population allele frequencies were <0.00004 for 11 (42%) of the cardiac variants and 10 (32%) of the epilepsy variants. Together, these metrics identified 13 SUDEP variants of interest. Discussion: Nearly three-quarters of decedents in this SUDEP cohort carried variants in comprehensive epilepsy or cardiac arrhythmia gene panels, with more than a third having variants in both panels. The proportion of decedents with cardiac variants aligns with recent studies of the disproportionate cardiac burden the epilepsy community faces compared to the general population and suggests a possible cardiac contribution to epilepsy mortality. These results identified 13 priority targets for future functional studies of these genes potential role in sudden death and demonstrates the necessity for further exploration of potential genetic contributions to SUDEP. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

11. 2018 ACC/AHA/HRS guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society

Author

Kusumoto, Fred M., Schoenfeld, Mark H., Barrett, Coletta, Edgerton, James R., Ellenbogen, Kenneth A., Gold, Michael R., Goldschlager, Nora F., Hamilton, Robert M., Joglar, José A., Kim, Robert J., Lee, Richard, Marine, Joseph E., McLeod, Christopher J., Oken, Keith R., Patton, Kristen K., Pellegrini, Cara N., Selzman, Kimberly A., Thompson, Annemarie, and Varosy, Paul D.

Published
2019
Full Text
View/download PDF

12. 2018 ACC/AHA/HRS guideline on the evaluation and management of patients with bradycardia and cardiac conduction delay: Executive summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines, and the Heart Rhythm Society

Author

Kusumoto, Fred M., Schoenfeld, Mark H., Barrett, Coletta, Edgerton, James R., Ellenbogen, Kenneth A., Gold, Michael R., Goldschlager, Nora F., Hamilton, Robert M., Joglar, José A., Kim, Robert J., Lee, Richard, Marine, Joseph E., McLeod, Christopher J., Oken, Keith R., Patton, Kristen K., Pellegrini, Cara N., Selzman, Kimberly A., Thompson, Annemarie, and Varosy, Paul D.

Published
2019
Full Text
View/download PDF

13. Catecholaminergic Polymorphic Ventricular Tachycardia in Children

Author

Roston, Thomas M, Vinocur, Jeffrey M, Maginot, Kathleen R, Mohammed, Saira, Salerno, Jack C, Etheridge, Susan P, Cohen, Mitchell, Hamilton, Robert M, Pflaumer, Andreas, Kanter, Ronald J, Potts, James E, LaPage, Martin J, Collins, Kathryn K, Gebauer, Roman A, Temple, Joel D, Batra, Anjan S, Erickson, Christopher, Miszczak-Knecht, Maria, Kubuš, Peter, Bar-Cohen, Yaniv, Kantoch, Michal, Thomas, Vincent C, Hessling, Gabriele, Anderson, Chris, Young, Ming-Lon, Cabrera Ortega, Michel, Lau, Yung R, Johnsrude, Christopher L, Fournier, Anne, Kannankeril, Prince J, and Sanatani, Shubhayan

Subjects
Heart Disease, Cardiovascular, Clinical Research, Neurosciences, Pediatric, Adolescent, Age Factors, Anti-Arrhythmia Agents, Child, Death, Sudden, Cardiac, Defibrillators, Implantable, Electric Countershock, Female, Humans, Male, Patient Selection, Phenotype, Registries, Retrospective Studies, Risk Factors, Severity of Illness Index, Sympathectomy, Tachycardia, Ventricular, Time Factors, Treatment Outcome, polymorphic catecholaminergic ventricular tachycardia, implanted cardioverter defibrillator, flecainide, sudden unexpected death, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Medical Physiology, Cardiovascular System & Hematology
Abstract

BackgroundCatecholaminergic polymorphic ventricular tachycardia is an uncommon, potentially lethal, ion channelopathy. Standard therapies have high failure rates and little is known about treatment in children. Newer options such as flecainide and left cardiac sympathetic denervation are not well validated. We sought to define treatment outcomes in children with catecholaminergic polymorphic ventricular tachycardia.Methods and resultsThis is a Pediatric and Congenital Electrophysiology Society multicenter, retrospective cohort study of catecholaminergic polymorphic ventricular tachycardia patients diagnosed before 19 years of age. The cohort included 226 patients, including 170 probands and 56 relatives. Symptomatic presentation was reported in 176 (78%). Symptom onset occurred at 10.8 (interquartile range, 6.8-13.2) years with a delay to diagnosis of 0.5 (0-2.6) years. Syncope (P

Published
2015

14. Thromboembolic Risk After Atriopulmonary, Lateral Tunnel, and Extracardiac Conduit Fontan Surgery

Author

Deshaies, Catherine, Hamilton, Robert M., Shohoudi, Azadeh, Trottier, Helen, Poirier, Nancy, Aboulhosn, Jamil, Broberg, Craig S., Cohen, Scott, Cook, Stephen, Dore, Annie, Fernandes, Susan M., Fournier, Anne, Kay, Joseph, Mondésert, Blandine, Mongeon, François-Pierre, Opotowsky, Alexander R., Proietti, Anna, Ting, Jennifer, Zaidi, Ali, and Khairy, Paul

Published
2019
Full Text
View/download PDF

18. Maternal Anti‐Ro Antibody Titers Obtained With Commercially Available Immunoassays Are Strongly Associated With Immune‐Mediated Fetal Heart Disease.

Author

Jaeggi, Edgar, Kulasingam, Vathany, Chen, Jack, Fan, Chun‐Po Steve, Laskin, Carl, Hamilton, Robert M., Hiraki, Linda T., Silverman, Earl D., and Sepiashvili, Lusia

Subjects
FETAL heart abnormalities, AUTOANTIBODIES, BIOMARKERS, ECHOCARDIOGRAPHY, CARDIOMYOPATHIES, CHEMILUMINESCENCE assay, PREGNANT women, CONGENITAL heart disease, MEDICAL screening, IMMUNOASSAY, FETAL diseases, HEART block, RISK assessment, DESCRIPTIVE statistics, SYSTEMIC lupus erythematosus, ODDS ratio, LONGITUDINAL method, DISEASE risk factors, SYMPTOMS, FETUS
Abstract

Objective: Anti‐Ro antibody–positive mothers are frequently referred for serial echocardiography due to the fetal risk of developing heart block and endocardial fibroelastosis. Little is known why only some and not all offspring develop these cardiac manifestations of neonatal lupus (CNL). This prospective study examined associations between anti‐Ro antibody titers and fetal CNL. Methods: Antibody‐positive mothers referred since 2018 for fetal echocardiography at risk of CNL (group 1; n = 240) or with CNL (group 2; n = 18) were included. Maternal antibody titers were measured with a chemiluminescent immunoassay (CIA). Additional testing on diluted serum samples was used to quantify anti–Ro 60 antibody titers above the analytical measuring range (AMR) of the standard CIA (≥1,375 chemiluminescent units [CU]). Results: Among 27 total mothers with a fetal diagnosis of CNL, all displayed anti–Ro 60 antibody titers that exceeded the AMR of the CIA at least 10‐fold. Of 122 mothers in group 1 who underwent additional anti–Ro 60 antibody testing, event rates of CNL (n = 9) were 0% (0 of 45) among mothers with anti–Ro 60 antibody titers from 1,375–10,000 CU, 5% (3 of 56) among mothers with titers from 10,000–50,000 CU, but 29% (6 of 21) among mothers with titers >50,000 CU (odds ratio 13.1, P = 0.0008). Of mothers in group 2 with a primary diagnosis of CNL, 0% (0 of 18 mothers) had anti–Ro 60 antibody titers <10,000 CU, 44% (8 of 18 mothers) had titers from 10,000–50,000 CU, and 56% (10 of 18 mothers) had titers >50,000 CU. Conclusion: CNL is associated with substantially higher anti‐Ro antibody titers than are obtained using a standard CIA. Enhancing the assay measuring range allows an improved specificity of identifying pregnancies at risk of CNL. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

19. Time in Therapeutic Range With Vitamin K Antagonists in Congenital Heart Disease: A Multicentre Study

Author

Basmaji, Samir, primary, Samuel, Michelle, additional, Shohoudi, Azadeh, additional, Hamilton, Robert M., additional, Aboulhosn, Jamil, additional, Broberg, Craig S., additional, Chaix, Marie-A, additional, Cohen, Scott, additional, Cook, Stephen, additional, Dore, Annie, additional, Fernandes, Susan M., additional, Fortier, Annik, additional, Fournier, Anne, additional, Guertin, Marie-Claude, additional, Kay, Joseph, additional, Mondésert, Blandine, additional, Mongeon, François-Pierre, additional, Opotowsky, Alexander R., additional, Proietti, Anna, additional, Ting, Jennifer, additional, Zaidi, Ali, additional, and Khairy, Paul, additional

Published
2022
Full Text
View/download PDF

20. Abstract P2018: Tmem65 Is Critical For The Structure And Function Of The Intercalated Discs In Mouse Hearts

Author

Teng, Allen, primary, Gu, Liyang, additional, Di Paola, Michelle, additional, Lakin, Robert, additional, Williams, Zachary, additional, Au, Aaron, additional, CHEN, WENLIANG, additional, Callaghan, Neal I, additional, Hakem Zadeh, Farigol, additional, ZHOU, YU-QING, additional, Fatah, Meena, additional, Chatterjee, Diptendu, additional, Jourdan, Jane, additional, Jack, Liu, additional, Simmons, Craig A, additional, Kislinger, Thomas, additional, Yip, Christopher, additional, Backx, Peter, additional, Gourdie, Robert G, additional, Hamilton, Robert M, additional, and Gramolini, Anthony, additional

Published
2022
Full Text
View/download PDF

23. Abstract 13698: Does Obesity Impact Left Ventricular Thickness in Children With Hypertrophic Cardiomyopathy?

Author

Balaji, Seshadri, DeLorenzo, Michael P, Fish, Frank A, Etheridge, Susan P, Aziz, Peter F, Russell, Mark W, Tisma, Svjetlana, Pflaumer, Andreas, Sreeram, Narayanswami, Kubus, Peter, Law, Ian H, Kantoch, Michal J, Kertesz, Naomi J, Strieper, Margaret J, Erickson, Christopher C, Erickson, Christopher C, Moore, Jeremy P, Nakano, Stephanie J, Singh, Harinder R, Chang, Philip, Cohen, Mitchell I, Fournier, Anne, Ilina, Maria V, Smith, Richard T, Zimmerman, Frank, Horndasch, Michaela, Li, Walter, Batra, Anjan, Liberman, Leo, Hamilton, Robert M, Janson, Christopher M, Sanatani, Shubayan, Zeltser, Ilana, McDaniel, George, Garnreiter, Jason M, Katcoff, Hannah, and Shah, Maully

Published
2017

24. Abstract 13638: Risk Stratification for Sudden Death in Children With Hypertrophic Cardiomyopathy. An International Multi-Center Study

Author

Balaji, Seshadri, DeLorenzo, Michael P, Fish, Frank A, Etheridge, Susan P, Aziz, Peter F, Russell, Mark W, Tisma, Svjetlana, Pflaumer, Andreas, Sreeram, Narayanswami, Kubus, Peter, Law, Ian H, Kantoch, Michal J, Kertesz, Naomi J, Strieper, Margaret J, Erickson, Christopher C, Moore, Jeremy P, Nakano, Stephanie J, Singh, Harinder R, Chang, Philip, Cohen, Mitchell I, Fournier, Anne, Ilina, Maria V, Smith, Richard T, Zimmerman, Frank, Horndasch, Michaela, Li, Walter, Batra, Anjan, Liberman, Leo, Hamilton, Robert M, Janson, Christopher M, Sanatani, Shubayan, Zeltser, Ilana, McDaniel, George, Blaufox, Andrew D, Garnreiter, Jason M, Katcoff, Hannah, and Shah, Maully

Published
2017

26. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Author

Guimier, Anne, primary, Achleitner, Melanie T., additional, Moreau de Bellaing, Anne, additional, Edwards, Matthew, additional, de Pontual, Loïc, additional, Mittal, Kirti, additional, Dunn, Kyla E., additional, Grove, Megan E., additional, Tysoe, Carolyn J., additional, Dimartino, Clémantine, additional, Cameron, Jessie, additional, Kanthi, Anil, additional, Shukla, Anju, additional, van den Broek, Florence, additional, Chatterjee, Diptendu, additional, Alston, Charlotte L., additional, Knowles, Charlotte V., additional, Brett, Laura, additional, Till, Jan A., additional, Homfray, Tessa, additional, French, Paul, additional, Spentzou, Georgia, additional, Elserafy, Noha A., additional, Lichkus, Kate S., additional, Sankaran, Bindu P., additional, Kennedy, Hannah L., additional, George, Peter M., additional, Kidd, Alexa, additional, Wortmann, Saskia B., additional, Fisk, Dianna G., additional, Koopmann, Tamara T., additional, Rafiq, Muhammad A., additional, Merker, Jason D., additional, Parikh, Sumith, additional, Ahimaz, Priyanka, additional, Weintraub, Robert G., additional, Ma, Alan S., additional, Turner, Christian, additional, Ellaway, Carolyn J., additional, Phillips, Liza K., additional, Thorburn, David R., additional, Chung, Wendy K., additional, Kana, Sajel L., additional, Faye-Petersen, Ona M., additional, Thompson, Michelle L., additional, Janin, Alexandre, additional, McLeod, Karen, additional, McGowan, Ruth, additional, McFarland, Robert, additional, Girisha, Katta M., additional, Morris-Rosendahl, Deborah J., additional, Hurst, Anna C.E., additional, Turner, Claire L.S., additional, Hamilton, Robert M., additional, Taylor, Robert W., additional, Bajolle, Fanny, additional, Gordon, Christopher T., additional, Amiel, Jeanne, additional, Mayr, Johannes A., additional, and Doudney, Kit, additional

Published
2022
Full Text
View/download PDF

30. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Author

Guimier, Anne, primary, Achleitner, Melanie T., additional, Moreau de Bellaing, Anne, additional, Edwards, Matthew, additional, de Pontual, Loïc, additional, Mittal, Kirti, additional, Dunn, Kyla E., additional, Grove, Megan E., additional, Tysoe, Carolyn J., additional, Dimartino, Clémantine, additional, Cameron, Jessie, additional, Kanthi, Anil, additional, Shukla, Anju, additional, van den Broek, Florence, additional, Chatterjee, Diptendu, additional, Alston, Charlotte L., additional, Knowles, Charlotte V., additional, Brett, Laura, additional, Till, Jan A., additional, Homfray, Tessa, additional, French, Paul, additional, Spentzou, Georgia, additional, Elserafy, Noha A., additional, Lichkus, Kate S., additional, Sankaran, Bindu P., additional, Kennedy, Hannah L., additional, George, Peter M., additional, Kidd, Alexa, additional, Wortmann, Saskia B., additional, Fisk, Dianna G., additional, Koopmann, Tamara T., additional, Rafiq, Muhammad A., additional, Merker, Jason D., additional, Parikh, Sumith, additional, Ahimaz, Priyanka, additional, Weintraub, Robert G., additional, Ma, Alan S., additional, Turner, Christian, additional, Ellaway, Carolyn J., additional, Phillips, Liza K., additional, Thorburn, David R., additional, Chung, Wendy K., additional, Kana, Sajel L., additional, Faye-Petersen, Ona M., additional, Thompson, Michelle L., additional, Janin, Alexandre, additional, McLeod, Karen, additional, McGowan, Ruth, additional, McFarland, Robert, additional, Girisha, Katta M., additional, Morris-Rosendahl, Deborah J., additional, Hurst, Anna C.E., additional, Turner, Claire L.S., additional, Hamilton, Robert M., additional, Taylor, Robert W., additional, Bajolle, Fanny, additional, Gordon, Christopher T., additional, Amiel, Jeanne, additional, Mayr, Johannes A., additional, and Doudney, Kit, additional

Published
2021
Full Text
View/download PDF

32. Abstract P361: Reduced Cardiac Tmem65 In Mouse Hearts Results In Intercalated Disc Defects And Eventual Dilated Cardiomyopathy With Cardiac Fibrosis

Author

Teng, Allen C, primary, Gu, Liyang, additional, Di Paola, Michelle, additional, Williams, Zachary, additional, Au, Aaron, additional, Callaghan, Neal, additional, Hakem Zadeh, Farigol, additional, Zhao, Yu-Qing, additional, Fatah, Meena, additional, Chatterjee, Diptendu, additional, Jourdan, J. J, additional, Simmons, Craig A, additional, Kislinger, Thomas, additional, Yip, Christopher, additional, Gourdie, Robert G, additional, Hamilton, Robert M, additional, and Gramolini, Anthony, additional

Published
2021
Full Text
View/download PDF

34. HRS Expert Consensus Statement on the Management of Cardiovascular Implantable Electronic Devices (CIEDs) in patients nearing end of life or requesting withdrawal of therapy: This document was developed in collaboration and endorsed by the American College of Cardiology (ACC), the American Geriatrics Society (AGS), the American Academy of Hospice and Palliative Medicine (AAHPM); the American Heart Association (AHA), the European Heart Rhythm Association (EHRA), and the Hospice and Palliative Nurses Association (HPNA)

Author

Lampert, Rachel, Hayes, David L., Annas, George J., Farley, Margaret A., Goldstein, Nathan E., Hamilton, Robert M., Kay, G. Neal, Kramer, Daniel B., Mueller, Paul S., Padeletti, Luigi, Pozuelo, Leo, Schoenfeld, Mark H., Vardas, Panos E., Wiegand, Debra L., and Zellner, Richard

Published
2010
Full Text
View/download PDF

35. B-PO05-167 ATRIAL TACHYARRHYTHMIAS IN CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA: A REPORT FROM THE INTERNATIONAL PEDIATRIC CPVT REGISTRY

Author

Kallas, Dania, primary, Ghadiry-Tavi, Rouzbeh, additional, Roston, Thomas M., additional, Franciosi, Sonia, additional, Fischbach, Peter S., additional, Knight, Linda M., additional, Kannankeril, Prince J., additional, Krahn, Andrew D., additional, Kwok, Sit-Yee, additional, LaPage, Martin J., additional, Tisma-Dupanovic, Svjetlana, additional, Atallah, Joseph, additional, Kean, Adam C., additional, Etheridge, Susan P., additional, Hill, Allison C., additional, Law, Ian H., additional, Balaji, Seshadri, additional, Johnsrude, Christopher L., additional, Backhoff, David, additional, Dhillon, Santokh S., additional, Perry, James C., additional, Kubuš, Peter, additional, Kovach, Joshua R., additional, Fournier, Anne, additional, Kamp, Anna N., additional, Kron, Jordana, additional, Lau, Yung R., additional, Brugada, Georgia Sarquella, additional, Hamilton, Robert M., additional, and Sanatani, Shubhayan, additional

Published
2021
Full Text
View/download PDF

36. B-PO02-197 PATTERNS OF ELECTROCARDIOGRAPH ABNORMALITIES IN CHILDREN WITH HYPERTROPHIC CARDIOMYOPATHY

Author

Malik, Aneeq, primary, Marshall, Mayme Elizabeth, additional, Shah, Maully J., additional, Fish, Frank A., additional, Etheridge, Susan P., additional, Aziz, Peter F., additional, Russell, Mark, additional, Tisma-Dupanovic, Svjetlana, additional, Pflaumer, Andreas, additional, Sreeram, Narayanswami, additional, Kubuš, Peter, additional, Law, Ian H., additional, Kantoch, Michal, additional, Kertesz, Naomi J., additional, Strieper, Margaret J., additional, Erickson, Christopher C., additional, Moore, Jeremy P., additional, Nakano, Stephanie, additional, Singh, Harinder R., additional, Chang, Philip M., additional, Cohen, Mitchell I., additional, Fournier, Anne, additional, Ilina, Maria V., additional, Smith, Richard T., additional, Zimmermann, Frank, additional, Horndasch, Michaela, additional, Li, Walter L., additional, Batra, Anjan S., additional, Liberman, Leonardo, additional, Hamilton, Robert M., additional, Janson, Christopher M., additional, Sanatani, Shubhayan, additional, Zeltser, Ilana, additional, McDaniel, George M., additional, Blaufox, Andrew D., additional, Garnreiter, Jason Michael, additional, and Balaji, Seshadri, additional

Published
2021
Full Text
View/download PDF

37. B-PO04-022 CLINICAL AND FUNCTIONAL CHARACTERIZATION OF RYR2 VARIANTS IMPLICATED IN CALCIUM RELEASE DEFICIENCY SYNDROME: AN INTERNATIONAL MULTICENTER STUDY

Author

Roston, Thomas M., primary, Wei, Jinhong, additional, Guo, Wenting, additional, Li, Yanhui, additional, Zhong, Xiaowei, additional, Wang, Ruiwu, additional, Estillore, John Paul, additional, Hamilton, Robert M., additional, Krahn, Andrew D., additional, LaPage, Martin J., additional, Maginot, Kathleen R., additional, Peltenburg, Puck, additional, Orland, Kate, additional, Tadros, Rafik, additional, Vinocur, Jeffrey M., additional, Lee Eckhardt, L., additional, Till, Jan, additional, Roberts, Jason D., additional, Wilde, Arthur A.M., additional, Jensen, Henrik K., additional, Sanatani, Shubhayan, additional, and Chen, S.R. Wayne, additional

Published
2021
Full Text
View/download PDF

38. B-011-22 MACHINE LEARNING TO PREDICT RECURRENT EVENTS FOLLOWING UNEXPLAINED CARDIAC ARREST

Author

Cheung, Christopher C., primary, Davies, Brianna, additional, Roberts, Jason D., additional, Tadros, Rafik, additional, Green, Martin S., additional, Healey, Jeffrey S., additional, Simpson, Christopher S., additional, Sanatani, Shubhayan, additional, Steinberg, Christian, additional, Gardner, Martin J., additional, MacIntyre, Ciorsti, additional, Angaran, Paul, additional, Duff, Henry J., additional, Talajic, Mario, additional, Hamilton, Robert M., additional, Arbour, Laura, additional, Leather, Richard A., additional, Seifer, Colette M., additional, Fournier, Anne, additional, Joza, Jacqueline E., additional, Klein, George J., additional, Laksman, Zachary, additional, and Krahn, Andrew D., additional

Published
2021
Full Text
View/download PDF

42. Cadherin 2-Related Arrhythmogenic Cardiomyopathy

Author

Ghidoni, Alice, primary, Elliott, Perry M., additional, Syrris, Petros, additional, Calkins, Hugh, additional, James, Cynthia A., additional, Judge, Daniel P., additional, Murray, Brittney, additional, Barc, Julien, additional, Probst, Vincent, additional, Schott, Jean Jacques, additional, Song, Jiang-Ping, additional, Hauer, Richard N.W., additional, Hoorntje, Edgar T., additional, van Tintelen, J. Peter, additional, Schulze-Bahr, Eric, additional, Hamilton, Robert M., additional, Mittal, Kirti, additional, Semsarian, Christopher, additional, Behr, Elijah R., additional, Ackerman, Michael J., additional, Basso, Cristina, additional, Parati, Gianfranco, additional, Gentilini, Davide, additional, Kotta, Maria-Christina, additional, Mayosi, Bongani M., additional, Schwartz, Peter J., additional, and Crotti, Lia, additional

Published
2021
Full Text
View/download PDF

48. Identification of 22 novel loci associated with susceptibility to testicular germ cell tumors

Author

Pluta, John B., Pyle, Louise C., Bishop, D. Timothy, Benitez, Javier, Cortessis, Victoria K., Ferlin, Alberto, Gietema, Jourik A., Greene, Mark H., Grotmol, Tom, Gupta, Ramneek, Hamilton, Robert M, Hildebrandt, Michelle, Kiemeney, Lambertus A, Lessel, Davor, Rafnar, Thorunn, Richiardi, Lorenzo, Skotheim, Rolf I., Turnbull, Clare, Wiklund, Fredrik, Zheng, Tongzhang, Rajpert-De Meyts, Ewa, Schwartz, Stephen M., McGlynn, Katherine A., Kanetsky, Peter A, Nathanson, Katherine L., Guided Treatment in Optimal Selected Cancer Patients (GUTS), and Damage and Repair in Cancer Development and Cancer Treatment (DARE)

Abstract

Background: Testicular germ cell tumors (TGCT) are the most common cancers in young men of European ancestry aged 20 to 39 years. The incidence of TGCT has doubled over the past 20 years, yet no robust environmental risk factors for disease have been identified. Although TGCTs are treatable by surgery, radiation, and platinum-based chemotherapy, multiple long-term toxicities of treatment often occur impacting morbidity and mortality. Due to their high heritability and homogenous cell of origin, TGCTs are well suited to genome-wide association methods. The Testicular Cancer Consortium (TECAC) has brought together the largest genome-wise association study (GWAS) study of TGCT to date. Methods: We conducted a GWAS of 5,602 cases and 5,006 controls aggregated from 12 locations in the US and Europe. Logistic regression models adjusted for study center and genomic ancestry. Genotypes were imputed against the Human Haplotype Reference Consortium. Meta-analysis was performed to combine GWAS results with summary statistics from five previously published TGCT studies, UK Biobank, deCODE Genetics, and an independent set of cases and controls, for a total of 10,156 cases and 179,683 controls. Biologic function of loci was explored using PAINTOR annotated with ATAC-seq data of four TGCT cell lines, SPATIAL-seq data of the NTERA2 TGCT cell-line, and publicly available data from ENCODE. Polygenic risk scores (PRS) were computed using subject-level data from the 5,602 cases and 5,006 controls, and effect sizes of the novel hits derived from the meta-analysis. Results: 22 novel and 45 previously reported loci associated with TGCT surpassed genome-wide significance (p < 5e-08). We discovered additional markers in known susceptibility loci and identified novel regions associated with germ cell development and sex determination (e.g., BCL11, AR), immune function (e.g., TNXB, ITIH5), and for the first time identified genes associated with kinetochore activity (e.g., PPP2R5A, ANAPC2). All identified risk SNPs to date account for 42.3% of heritability. Men in the highest 1% of PRS had over a 15-fold increased risk of TGCT compared to those at the median PRS, and PRS overall had an AUC of 74.29%. Conclusions: Results from our TGCT meta-analysis continue to provide insights into biological pathways affecting germ cell specification, expression, and epigenetic reprogramming, and sex determination. Our results also uniquely place TGCT as the only cancer type in which inherited variants implicating kinetochore activity, critical for chromosomal segregation, have been identified. Citation Format: John Pluta, Louisa Pyle, Timothy Bishop, Javier Benitez, Victoria Cortessis, Alberto Ferlin, Jourik Gietema, Mark Greene, Thomas Grotmol, Ramneek Gupta, Robert Hamilton, Michelle Hildebrandt, Lambertus Kiemeney, Davor Lessel, Thorunn Rafnar, Lorenzo Richiardi, Rolf Skotheim, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Ewa Rajpert- De Meyts, Stephen Schwartz, Katherine McGlynn, Peter Kanetsky, Katherine Nathanson. Identification of 22 novel loci associated with susceptibility to testicular germ cell tumors [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 1203.

Published
2020

Catalog

Books, media, physical & digital resources
See catalog results