Search Results - "Bos, J Martijn"

Artificial Intelligence–Enabled Assessment of the Heart Rate Corrected QT Interval Using a Mobile Electrocardiogram Device by Giudicessi, John R., Schram, Matthew, Bos, J. Martijn, Galloway, Conner D., Shreibati, Jacqueline B., Johnson, Patrick W., Carter, Rickey E., Disrud, Levi W., Kleiman, Robert, Attia, Zachi I., Noseworthy, Peter A., Friedman, Paul A., Albert, David E., Ackerman, Michael J.

“…Heart rate-corrected QT interval (QTc) prolongation, whether secondary to drugs, genetics including congenital long QT syndrome, and/or systemic diseases…”
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Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy by Bos, J. Martijn, MD, Towbin, Jeffrey A., MD, Ackerman, Michael J., MD, PhD

“…Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated…”
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MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy by McNamara, James W, Li, Amy, Lal, Sean, Bos, J Martijn, Harris, Samantha P, van der Velden, Jolanda, Ackerman, Michael J, Cooke, Roger, Dos Remedios, Cristobal G

“…The "super-relaxed state" (SRX) of myosin represents a 'reserve' of motors in the heart. Myosin heads in the SRX are bound to the thick filament and have a…”
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Prevalence, Clinical Significance, and Natural History of Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy by MARON, Martin S, FINLEY, John J, MARTIJN BOS, J, HAUSER, Thomas H, MANNING, Warren J, HAAS, Tammy S, LESSER, John R, UDELSON, James E, ACKERMAN, Michael J, MARON, Barry J

“…Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the…”
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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy by Olivotto, Iacopo, Girolami, Francesca, Ackerman, Michael J., Nistri, Stefano, Bos, J. Martijn, Zachara, Elisabetta, Ommen, Steve R., Theis, Jeanne L., Vaubel, Rachael A., Re, Federica, Armentano, Corinna, Poggesi, Corrado, Torricelli, Francesca, Cecchi, Franco

“…To determine the influence of a positive genetic test for hypertrophic cardiomyopathy (HCM) on clinical outcome. A cohort of 203 unrelated patients with HCM…”
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Implantable cardioverter-defibrillator use in catecholaminergic polymorphic ventricular tachycardia: A systematic review by Roston, Thomas M., Jones, Karolina, Hawkins, Nathaniel M., Bos, J. Martijn, Schwartz, Peter J., Perry, Frances, Ackerman, Michael J., Laksman, Zachary W.M., Kaul, Padma, Lieve, Krystien V.V., Atallah, Joseph, Krahn, Andrew D., Sanatani, Shubhayan

“…The implantable cardioverter-defibrillator (ICD) may be associated with a high risk of complications in patients with catecholaminergic polymorphic ventricular…”
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Detection of hypertrophic cardiomyopathy by an artificial intelligence electrocardiogram in children and adolescents by Siontis, Konstantinos C., Liu, Kan, Bos, J. Martijn, Attia, Zachi I., Cohen-Shelly, Michal, Arruda-Olson, Adelaide M., Zanjirani Farahani, Nasibeh, Friedman, Paul A., Noseworthy, Peter A., Ackerman, Michael J.

“…There is no established screening approach for hypertrophic cardiomyopathy (HCM). We recently developed an artificial intelligence (AI) model for the detection…”
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Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy by Bos, J. Martijn, MD, PhD, Will, Melissa L., BS, Gersh, Bernard J., MB, ChB, DPhil, Kruisselbrink, Teresa M., MS, CGC, Ommen, Steve R., MD, Ackerman, Michael J., MD, PhD

“…Abstract Objectives To determine the prevalence and spectrum of mutations and genotype-phenotype relationships in the largest hypertrophic cardiomyopathy (HCM)…”
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Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations by Olivotto, Iacopo, MD, Girolami, Francesca, BSc, Sciagrà, Roberto, MD, Ackerman, Michael J., MD, PhD, Sotgia, Barbara, MD, Bos, J. Martijn, MD, PhD, Nistri, Stefano, MD, Sgalambro, Aurelio, MD, Grifoni, Camilla, MD, Torricelli, Francesca, BSc, Camici, Paolo G., MD, Cecchi, Franco, MD

“…Objectives The purpose of this study was to assess myocardial blood flow (MBF) using positron emission tomography in patients with hypertrophic cardiomyopathy…”
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Institution-Wide QT Alert System Identifies Patients With a High Risk of Mortality by Haugaa, Kristina H., MD, PhD, Bos, J. Martijn, MD, PhD, Tarrell, Robert F., MS, Morlan, Bruce W., MS, Caraballo, Pedro J., MD, Ackerman, Michael J., MD, PhD

“…Abstract Objectives To determine the phenotype and outcome of patients with QTc of at least 500 ms and to create a pro-QTc risk score for mortality. Patients…”
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Return-to-Play for Athletes With Genetic Heart Diseases by Turkowski, Kari L, Bos, J Martijn, Ackerman, Nicholas C, Rohatgi, Ram K, Ackerman, Michael J

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Cardiac Ankyrin Repeat Protein Gene ( ANKRD1 ) Mutations in Hypertrophic Cardiomyopathy by Arimura, Takuro, DVM, PhD, Bos, J. Martijn, MD, Sato, Akinori, MD, Kubo, Toru, MD, PhD, Okamoto, Hiroshi, MD, PhD, Nishi, Hirofumi, MD, PhD, Harada, Haruhito, MD, PhD, Koga, Yoshinori, MD, PhD, Moulik, Mousumi, MD, Doi, Yoshinori L., MD, PhD, Towbin, Jeffrey A., MD, Ackerman, Michael J., MD, PhD, Kimura, Akinori, MD, PhD

“…Objectives The purpose of this study was to explore a novel disease gene for hypertrophic cardiomyopathy (HCM) and to evaluate functional alterations caused by…”
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A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene by Ding, Yonghe, Long, Pamela A, Bos, J Martijn, Shih, Yu-Huan, Ma, Xiao, Sundsbak, Rhianna S, Chen, Jianhua, Jiang, Yiwen, Zhao, Liqun, Hu, Xinyang, Wang, Jianan, Shi, Yongyong, Ackerman, Michael J, Lin, Xueying, Ekker, Stephen C, Redfield, Margaret M, Olson, Timothy M, Xu, Xiaolei

“…Mutagenesis screening is a powerful forward genetic approach that has been successfully applied in lower-model organisms to discover genetic factors for…”
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A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome by Bains, Sahej, Dotzler, Steven M., Krijger, Christian, Giudicessi, John R., Ye, Dan, Bikker, Hennie, Rohatgi, Ram K., Tester, David J., Bos, J. Martijn, Wilde, Arthur A.M., Ackerman, Michael J.

“…Pathogenic/likely pathogenic (P/LP) variants in the KCNQ1-encoded Kv7.1 potassium channel cause type 1 long QT syndrome (LQT1). Despite the revamped 2015…”
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Proteomic and phosphoproteomic analyses of myectomy tissue reveals difference between sarcomeric and genotype-negative hypertrophic cardiomyopathy by Garmany, Ramin, Bos, J. Martijn, Dasari, Surendra, Johnson, Kenneth L., Tester, David J., Giudicessi, John R., dos Remedios, Cristobal, Maleszewski, Joseph J., Ommen, Steve R., Dearani, Joseph A., Ackerman, Michael J.

“…Hypertrophic cardiomyopathy (HCM) is a genetically heterogenous condition with about half of cases remaining genetically elusive or non-genetic in origin. HCM…”
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Role of Family History of Sudden Death in Risk Stratification and Prevention of Sudden Death With Implantable Defibrillators in Hypertrophic Cardiomyopathy by Bos, J. Martijn, MD, PhD, Maron, Barry J., MD, Ackerman, Michael J., MD, PhD, Haas, Tammy S., RN, Sorajja, Paul, MD, Nishimura, Rick A., MD, Gersh, Bernard J., MBChB, DPhil, Ommen, Steve R., MD

“…The selection of patients with hypertrophic cardiomyopathy (HC) for the primary prevention of sudden death (SD) with implantable cardioverter-defibrillators…”
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Electromechanical window negativity in genotyped long-QT syndrome patients: relation to arrhythmia risk by ter Bekke, Rachel M A, Haugaa, Kristina H, van den Wijngaard, Arthur, Bos, J Martijn, Ackerman, Michael J, Edvardsen, Thor, Volders, Paul G A

“…Prolonged and dispersed left-ventricular (LV) contraction is present in patients with long-QT syndrome (LQTS). Electrical and mechanical abnormalities appear…”
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Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome by Gaba, Prakriti, BS, Bos, J. Martijn, MD, PhD, Cannon, Bryan C., MD, FHRS, Cha, Yong-Mei, MD, FHRS, Friedman, Paul A., MD, FHRS, Asirvatham, Samuel J., MD, FHRS, Ackerman, Michael J., MD, PhD

“…Background Primary treatment of long QT syndrome (LQTS) currently consists of beta-blocker therapy, although an implantable cardioverter-defibrillator (ICD) is…”
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Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy by Olivotto, Iacopo, MD, Girolami, Francesca, BSc, Ackerman, Michael J., MD, PhD, Nistri, Stefano, MD, Bos, J. Martijn, MD, Zachara, Elisabetta, MD, Ommen, Steve R., MD, Theis, Jeanne L., BS, Vaubel, Rachael A., BA, Re, Federica, MD, Armentano, Corinna, MD, Poggesi, Corrado, MD, Torricelli, Francesca, BSc, Cecchi, Franco, MD

“…OBJECTIVE To determine the influence of a positive genetic test for hypertrophic cardiomyopathy (HCM) on clinical outcome. PATIENTS AND METHODS A cohort of 203…”
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Mutations in JPH2 -encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans by Landstrom, Andrew P, Weisleder, Noah, Batalden, Karin B, Martijn Bos, J, Tester, David J, Ommen, Steve R, Wehrens, Xander H.T, Claycomb, William C, Ko, Jae-Kyun, Hwang, Moonsun, Pan, Zui, Ma, Jianjie, Ackerman, Michael J

“…Abstract Junctophilin-2 ( JPH2 ) is a cardiac specific member of the junctophilins, a newly characterized family of junctional membrane complex proteins…”
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