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2. Patterns of Electrocardiographic Abnormalities in Children with Hypertrophic Cardiomyopathy

Author

Marshall, Mayme, Malik, Aneeq, Shah, Maully, 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, Erickson, Christopher C., Moore, Jeremy P., Nakano, Stephanie J., Singh, Harinder R., Chang, Philip, Cohen, Mitchell, Fournier, Anne, Ilina, Maria V., Zimmermann, Frank, Horndasch, Michaela, Li, Walter, Batra, Anjan S., Liberman, Leonardo, Hamilton, Robert, Janson, Christopher M., Sanatani, Shubhayan, Zeltser, Ilana, McDaniel, George, Blaufox, Andrew D., Garnreiter, Jason M., and Balaji, Seshadri

Published
2024
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3. Flecainide Is Associated With a Lower Incidence of Arrhythmic Events in a Large Cohort of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.

Author

Bergeman, Auke, Lieve, Krystien, Kallas, Dania, Bos, J, Rosés I Noguer, Ferran, Denjoy, Isabelle, Zorio, Esther, Kammeraad, Janneke, Peltenburg, Puck, Tobert, Katie, Aiba, Takeshi, Atallah, Joseph, Drago, Fabrizio, Batra, Anjan, Brugada, Ramon, Borggrefe, Martin, Clur, Sally-Ann, Cox, Moniek, Davis, Andrew, Dhillon, Santokh, Etheridge, Susan, Fischbach, Peter, Franciosi, Sonia, Haugaa, Kristina, Horie, Minoru, Johnsrude, Christopher, Kane, Austin, Krause, Ulrich, Kwok, Sit-Yee, LaPage, Martin, Ohno, Seiko, Probst, Vincent, Roberts, Jason, Robyns, Tomas, Sacher, Frederic, Semsarian, Christopher, Skinner, Jonathan, Swan, Heikki, Tavacova, Terezia, Tisma-Dupanovic, Svjetlana, Tfelt-Hansen, Jacob, Yap, Sing-Chien, Kannankeril, Prince, Leenhardt, Antoine, Till, Janice, Sanatani, Shubhayan, Tanck, Michael, Ackerman, Michael, Wilde, Arthur, and van der Werf, Christian

Subjects
catecholaminergic polymorphic ventricular tachycardia, sudden cardiac death, ventricular arrhythmias, Female, Humans, Adolescent, Male, Flecainide, Incidence, Cross-Over Studies, Tachycardia, Ventricular, Adrenergic beta-Antagonists, Defibrillators, Implantable, Death, Sudden, Cardiac
Abstract

BACKGROUND: In severely affected patients with catecholaminergic polymorphic ventricular tachycardia, beta-blockers are often insufficiently protective. The purpose of this study was to evaluate whether flecainide is associated with a lower incidence of arrhythmic events (AEs) when added to beta-blockers in a large cohort of patients with catecholaminergic polymorphic ventricular tachycardia. METHODS: From 2 international registries, this multicenter case cross-over study included patients with a clinical or genetic diagnosis of catecholaminergic polymorphic ventricular tachycardia in whom flecainide was added to beta-blocker therapy. The study period was defined as the period in which background therapy (ie, beta-blocker type [beta1-selective or nonselective]), left cardiac sympathetic denervation, and implantable cardioverter defibrillator treatment status, remained unchanged within individual patients and was divided into pre-flecainide and on-flecainide periods. The primary end point was AEs, defined as sudden cardiac death, sudden cardiac arrest, appropriate implantable cardioverter defibrillator shock, and arrhythmic syncope. The association of flecainide with AE rates was assessed using a generalized linear mixed model assuming negative binomial distribution and random effects for patients. RESULTS: A total of 247 patients (123 [50%] females; median age at start of flecainide, 18 years [interquartile range, 14-29]; median flecainide dose, 2.2 mg/kg per day [interquartile range, 1.7-3.1]) were included. At baseline, all patients used a beta-blocker, 70 (28%) had an implantable cardioverter defibrillator, and 21 (9%) had a left cardiac sympathetic denervation. During a median pre-flecainide follow-up of 2.1 years (interquartile range, 0.4-7.2), 41 patients (17%) experienced 58 AEs (annual event rate, 5.6%). During a median on-flecainide follow-up of 2.9 years (interquartile range, 1.0-6.0), 23 patients (9%) experienced 38 AEs (annual event rate, 4.0%). There were significantly fewer AEs after initiation of flecainide (incidence rate ratio, 0.55 [95% CI, 0.38-0.83]; P=0.007). Among patients who were symptomatic before diagnosis or during the pre-flecainide period (n=167), flecainide was associated with significantly fewer AEs (incidence rate ratio, 0.49 [95% CI, 0.31-0.77]; P=0.002). Among patients with ≥1 AE on beta-blocker therapy (n=41), adding flecainide was also associated with significantly fewer AEs (incidence rate ratio, 0.25 [95% CI, 0.14-0.45]; P

Published
2023

4. An international multicenter cohort study on implantable cardioverter-defibrillators for the treatment of symptomatic children with catecholaminergic polymorphic ventricular tachycardia

Author

Lamba, Avani, Roston, Thomas M., Peltenburg, Puck J., Kallas, Dania, Franciosi, Sonia, Lieve, Krystien V.V., Kannankeril, Prince J., Horie, Minoru, Ohno, Seiko, Brugada, Ramon, Aiba, Takeshi, Fischbach, Peter, Knight, Linda, Till, Jan, Kwok, Sit-Yee, Probst, Vincent, Backhoff, David, LaPage, Martin J., Batra, Anjan S., Drago, Fabrizio, Haugaa, Kristina, Krahn, Andrew D., Robyns, Tomas, Swan, Heikki, Tavacova, Terezia, van der Werf, Christian, Atallah, Joseph, Borggrefe, Martin, Rudic, Boris, Sarquella-Brugada, Georgia, Chorin, Ehud, Hill, Allison, Kammeraad, Janneke, Kamp, Anna, Law, Ian, Perry, James, Roberts, Jason D., Tisma-Dupanovic, Svjetlana, Semsarian, Christopher, Skinner, Jonathan R., Tfelt-Hansen, Jacob, Denjoy, Isabelle, Leenhardt, Antoine, Schwartz, Peter J., Ackerman, Michael J., Blom, Nico A., Wilde, Arthur A.M., and Sanatani, Shubhayan

Published
2024
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7. Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry

Author

Rayani, Kaveh, Davies, Brianna, Cheung, Matthew, Comber, Drake, Roberts, Jason D., Tadros, Rafik, Green, Martin S., Healey, Jeffrey S., Simpson, Christopher S., Sanatani, Shubhayan, Steinberg, Christian, MacIntyre, Ciorsti, Angaran, Paul, Duff, Henry, Hamilton, Robert, Arbour, Laura, Leather, Richard, Seifer, Colette, Fournier, Anne, Atallah, Joseph, Kimber, Shane, Makanjee, Bhavanesh, Alqarawi, Wael, Cadrin-Tourigny, Julia, Joza, Jacqueline, Gardner, Martin, Talajic, Mario, Bagnall, Richard D., Krahn, Andrew D., and Laksman, Zachary W. M.

Published
2023
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8. The Prevalence and Characteristics of Arrhythmic Mitral Valve Prolapse in Patients With Unexplained Cardiac Arrest

Author

Alqarawi, Wael, Tadros, Rafik, Roberts, Jason D., Cheung, Christopher C., Green, Martin S., Burwash, Ian G., Steinberg, Christian, Healey, Jeffrey S., Khan, Habib, McIntyre, Ciorsti, Cadrin-Touringy, Julia, Laksman, Zachary W.M., Simpson, Christopher S., Sanatani, Shubhayan, Gardner, Martin, Angaran, Paul, Ilhan, Erkan, Talajic, Mario, Arbour, Laura, Leather, Richard, Seifer, Colette, Joza, Jacqueline, Lee, Felicity, Lau, Lawrence, Nair, Girish, Wells, George, and Krahn, Andrew D.

Published
2023
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10. Genotype Predicts Outcomes in Fetuses and Neonates With Severe Congenital Long QT Syndrome

Author

Moore, Jeremy P, Gallotti, Roberto G, Shannon, Kevin M, Bos, J Martijn, Sadeghi, Elham, Strasburger, Janette F, Wakai, Ronald T, Horigome, Hitoshi, Clur, Sally-Ann, Hill, Allison C, Shah, Maully J, Behere, Shashank, Sarquella-Brugada, Georgia, Czosek, Richard, Etheridge, Susan P, Fischbach, Peter, Kannankeril, Prince J, Motonaga, Kara, Landstrom, Andrew P, Williams, Matthew, Patel, Akash, Dagradi, Federica, Tan, Reina B, Stephenson, Elizabeth, Krishna, Mani Ram, Miyake, Christina Y, Lee, Michelle E, Sanatani, Shubhayan, Balaji, Seshadri, Young, Ming-Lon, Siddiqui, Saad, Schwartz, Peter J, Shivkumar, Kalyanam, and Ackerman, Michael J

Subjects
Genetics, Cardiovascular, Pediatric, Infant Mortality, Clinical Research, Heart Disease, Perinatal Period - Conditions Originating in Perinatal Period, Aftercare, Electrocardiography, Fetus, Genotype, Humans, Infant, Newborn, Long QT Syndrome, Patient Discharge, Retrospective Studies, atrioventricular block, cardiac sympathetic denervation, fetal arrhythmia, fetus, genetic testing, implantable cardioverter-defibrillator, long QT syndrome, magnetocardiography, sudden cardiac death, torsades de pointes, Cardiorespiratory Medicine and Haematology, Clinical Sciences
Abstract

ObjectivesThis study sought to determine the relationship between long QT syndrome (LQTS) subtype (LTQ1, LTQ2, LTQ3) and postnatal cardiac events (CEs).BackgroundLQTS presenting with 2:1 atrioventricular block or torsades de pointes in the fetus and/or neonate has been associated with risk for major CEs, but overall outcomes and predictors remain unknown.MethodsA retrospective study involving 25 international centers evaluated the course of fetuses/newborns diagnosed with congenital LQTS and either 2:1 atrioventricular block or torsades de pointes. The primary outcomes were age at first CE after dismissal from the newborn hospitalization and death and/or cardiac transplantation during follow-up. CE was defined as aborted cardiac arrest, appropriate shock from implantable cardioverter-defibrillator, or sudden cardiac death.ResultsA total of 84 fetuses and/or neonates were identified with LQTS (12 as LQT1, 35 as LQT2, 37 as LQT3). Median gestational age at delivery was 37 weeks (interquartile range: 35 to 39 weeks) and age at hospital discharge was 3 weeks (interquartile range: 2 to 5 weeks). Fetal demise occurred in 2 and pre-discharge death in 1. Over a median of 5.2 years, there were 1 LQT1, 3 LQT2, and 23 LQT3 CEs (13 aborted cardiac arrests, 5 sudden cardiac deaths, and 9 appropriate shocks). One patient with LQT1 and 11 patients with LQT3 died or received cardiac transplant during follow-up. The only multivariate predictor of post-discharge CEs was LQT3 status (LQT3 vs. LQT2: hazard ratio: 8.4; 95% confidence interval: 2.6 to 38.9; p

Published
2020

11. 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

17. Return of Results Policies for Genomic Research: Current Practices and the Hearts in Rhythm Organization (HiRO) Approach

Author

Comber, Drake A., Davies, Brianna, Roberts, Jason D., Tadros, Rafik, Green, Martin S., Healey, Jeffrey S., Simpson, Christopher S., Sanatani, Shubhayan, Steinberg, Christian, MacIntyre, Ciorsti, Angaran, Paul, Duff, Henry, Hamilton, Robert, Arbour, Laura, Leather, Richard, Seifer, Colette, Fournier, Anne, Atallah, Joseph, Kimber, Shane, Makanjee, Bhavanesh, Alqarawi, Wael, Cadrin-Tourigny, Julia, Joza, Jacqueline, Gibbs, Karen, Robb, Laura, Zahavich, Laura, Gardner, Martin, Talajic, Mario, Virani, Alice, Krahn, Andrew D., Lehman, Anna, and Laksman, Zachary W.M.

Published
2022
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18. 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

19. Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Author

Roston, Thomas, Haji-Ghassemi, Omid, LaPage, Martin, Bar-Cohen, Yaniv, Anderson, Chris, Lau, Yung, Maginot, Kathleen, Gebauer, Roman, Etheridge, Susan, Potts, James, Van Petegem, Filip, Sanatani, Shubhayan, and Batra, Anjan

Subjects
Adolescent, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Infant, Newborn, Male, Myocardium, Protein Domains, Registries, Ryanodine Receptor Calcium Release Channel, Tachycardia, Ventricular, Treatment Outcome
Abstract

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is often a life-threatening arrhythmia disorder with variable penetrance and expressivity. Little is known about the incidence or outcomes of CPVT patients with ≥2 variants. METHODS: The phenotypes, genotypes and outcomes of patients in the Pediatric and Congenital Electrophysiology Society CPVT Registry with ≥2 variants in genes linked to CPVT were ascertained. The American College of Medical Genetics & Genomics (ACMG) criteria and structural mapping were used to predict the pathogenicity of variants (3D model of pig RyR2 in open-state). RESULTS: Among 237 CPVT subjects, 193 (81%) had genetic testing. Fifteen patients (8%) with a median age of 9 years (IQR 5-12) had ≥2 variants. Sudden cardiac arrest occurred in 11 children (73%), although none died during a median follow-up of 4.3 years (IQR 2.5-6.1). Thirteen patients (80%) had at least two RYR2 variants, while the remaining two patients had RYR2 variants plus variants in other CPVT-linked genes. Among all variants identified, re-classification of the commercial laboratory interpretation using ACMG criteria led to the upgrade from variant of unknown significance (VUS) to pathogenic/likely pathogenic (P/LP) for 5 variants, and downgrade from P/LP to VUS for 6 variants. For RYR2 variants, 3D mapping using the RyR2 model suggested that 2 VUS by ACMG criteria were P/LP, while 2 variants were downgraded to likely benign. CONCLUSIONS: This severely affected cohort demonstrates that a minority of CPVT cases are related to ≥2 variants, which may have implications on family-based genetic counselling. While multi-variant CPVT patients were at high-risk for sudden cardiac arrest, there are insufficient data to conclude that this genetic phenomenon has prognostic implications at present. Further research is needed to determine the significance and generalizability of this observation. This study also shows that a rigorous approach to variant re-classification using the ACMG criteria and 3D mapping is important in reaching an accurate diagnosis, especially in the multi-variant population.

Published
2018

20. Deep Learning–Augmented ECG Analysis for Screening and Genotype Prediction of Congenital Long QT Syndrome

Author

Jiang, River, primary, Cheung, Christopher C., additional, Garcia-Montero, Marta, additional, Davies, Brianna, additional, Cao, Jason, additional, Redfearn, Damian, additional, Laksman, Zachary M., additional, Grondin, Steffany, additional, Atallah, Joseph, additional, Escudero, Carolina A., additional, Cadrin-Tourigny, Julia, additional, Sanatani, Shubhayan, additional, Steinberg, Christian, additional, Joza, Jacqueline, additional, Avram, Robert, additional, Tadros, Rafik, additional, and Krahn, Andrew D., additional

Published
2024
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22. Management and outcomes of atrial fibrillation in 241 healthy children and young adults: Revisiting “lone” atrial fibrillation—A multi-institutional PACES collaborative study

Author

El Assaad, Iqbal, Hammond, Benjamin H., Kost, Lukas D., Worley, Sarah, Janson, Christopher M., Sherwin, Elizabeth D., Stephenson, Elizabeth A., Johnsrude, Christopher L., Niu, Mary, Shetty, Ira, Lawrence, David, McCanta, Anthony C., Balaji, Seshadri, Sanatani, Shubhayan, Fish, Frank, Webster, Gregory, and Aziz, Peter F.

Published
2021
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23. Evaluation of age at symptom onset, proband status, and sex as predictors of disease severity in pediatric catecholaminergic polymorphic ventricular tachycardia

Author

Kallas, Dania, Roston, Thomas M., Franciosi, Sonia, Brett, Laura, Lieve, Krystien V.V., Kwok, Sit-Yee, Kannankeril, Prince J., Krahn, Andrew D., LaPage, Martin J., Etheridge, Susan, Hill, Allison, Johnsrude, Christopher, Perry, James, Knight, Linda, Fischbach, Peter, Balaji, Seshadri, Tisma-Dupanovic, Svjetlana, Law, Ian, Atallah, Joseph, Backhoff, David, Kamp, Anna, Kubus, Peter, Kean, Adam, Aziz, Peter F., Kovach, Joshua, Lau, Yung, Kron, Jordana, Clur, Sally-Ann, Sarquella-Brugada, Georgia, Wilde, Arthur A.M., and Sanatani, Shubhayan

Published
2021
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28. Loss of ventricular preexcitation during noninvasive testing does not exclude high-risk accessory pathways: A multicenter study of WPW in children

Author

Escudero, Carolina A., Ceresnak, Scott R., Collins, Kathryn K., Pass, Robert H., Aziz, Peter F., Blaufox, Andrew D., Ortega, Michel Cabrera, Cannon, Bryan C., Cohen, Mitchell I., Dechert, Brynn E., Dubin, Anne M., Motonaga, Kara S., Epstein, Michael R., Erickson, Christopher C., Fishberger, Steven B., Gates, Gregory J., Capone, Christine A., Nappo, Lynn, Kertesz, Naomi J., Kim, Jeffrey J., Valdes, Santiago O., Kubuš, Peter, Law, Ian H., Maldonado, Jennifer, Moore, Jeremy P., Perry, James C., Sanatani, Shubhayan, Seslar, Stephen P., Shetty, Ira, Zimmerman, Frank J., Skinner, Jonathan R., Marcondes, Luciana, Stephenson, Elizabeth A., Asakai, Hiroko, Tanel, Ronn E., Uzun, Orhan, Etheridge, Susan P., and Janson, Christopher M.

Published
2020
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32. Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis

Author

Glazer, Andrew M., primary, Yang, Tao, additional, Li, Bian, additional, Page, Dana, additional, Fouda, Mohamed, additional, Wada, Yuko, additional, Lancaster, Megan C., additional, O’Neill, Matthew J., additional, Muhammad, Ayesha, additional, Gao, Xiaozhi, additional, Ackerman, Michael J., additional, Sanatani, Shubhayan, additional, Ruben, Peter C., additional, and Roden, Dan M., additional

Published
2024
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36. 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

37. 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summary

Author

Towbin, Jeffrey A., McKenna, William J., Abrams, Dominic J., Ackerman, Michael J., Calkins, Hugh, Darrieux, Francisco C.C., Daubert, James P., de Chillou, Christian, DePasquale, Eugene C., Desai, Milind Y., Estes, N.A. Mark, III, Hua, Wei, Indik, Julia H., Ingles, Jodie, James, Cynthia A., John, Roy M., Judge, Daniel P., Keegan, Roberto, Krahn, Andrew D., Link, Mark S., Marcus, Frank I., McLeod, Christopher J., Mestroni, Luisa, Priori, Silvia G., Saffitz, Jeffrey E., Sanatani, Shubhayan, Shimizu, Wataru, van Tintelen, J. Peter, Wilde, Arthur A.M., and Zareba, Wojciech

Published
2019
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38. Risk factors for lethal arrhythmic events in children and adolescents with hypertrophic cardiomyopathy and an implantable defibrillator: An international multicenter study

Author

Balaji, Seshadri, DiLorenzo, 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, Erickson, Christopher C., Moore, Jeremy P., Nakano, Stephanie J., Singh, Harinder R., Chang, Philip, Cohen, Mitchell, Fournier, Anne, Ilina, Maria V., Smith, Richard T., Zimmerman, Frank, Horndasch, Michaela, Li, Walter, Batra, Anjan, Liberman, Leonardo, Hamilton, Robert, Janson, Christopher M., Sanatani, Shubhayan, Zeltser, Ilana, McDaniel, George, Blaufox, Andrew D., Garnreiter, Jason M., Katcoff, Hannah, and Shah, Maully

Published
2019
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40. Comparison of Ajmaline and Procainamide Provocation Tests in the Diagnosis of Brugada Syndrome

Author

Cheung, Christopher C., Mellor, Greg, Deyell, Marc W., Ensam, Bode, Batchvarov, Velislav, Papadakis, Michael, Roberts, Jason D., Leather, Richard, Sanatani, Shubhayan, Healey, Jeffrey S., Chauhan, Vijay S., Birnie, David H., Champagne, Jean, Angaran, Paul, Klein, George J., Yee, Raymond, Simpson, Christopher S., Talajic, Mario, Gardner, Martin, Yeung-Lai-Wah, John A., Chakrabarti, Santabhanu, Laksman, Zachary W., Sharma, Sanjay, Behr, Elijah R., and Krahn, Andrew D.

Published
2019
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41. Pregnancy in Catecholaminergic Polymorphic Ventricular Tachycardia

Author

Cheung, Christopher C., Lieve, Krystien V., Roston, Thomas M., van der Ree, Martijn H., Deyell, Marc W., Andrade, Jason G., Laksman, Zachary W., Nannenberg, Eline A., Tadros, Rafik, Pang, Benjamin, Rutberg, Julie, Green, Martin S., Conacher, Susan, Seifer, Colette M., Roberts, Jason D., Steinberg, Christian, Sanatani, Shubhayan, Wilde, Arthur A., and Krahn, Andrew D.

Published
2019
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42. Advances in Hypertrophic Cardiomyopathy Disease Modeling using Human iPSC-derived Cardiomyocytes

Author

Dababneh, Saif, primary, Hamledari, Homa, additional, Maaref, Yasaman, additional, Jayousi, Farah, additional, Baygi, Dina H., additional, Khan, Aasim, additional, Jannati, Shayan, additional, Jabbari, Kosar, additional, Arslanova, Alia, additional, Butt, Mariam, additional, Roston, Thomas M., additional, Sanatani, Shubhayan, additional, and Tibbits, Glen F., additional

Published
2023
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43. The 2023 Canadian Cardiovascular Society Clinical Practice Update on Management of the Patient With a Prolonged QT Interval

Author

Davies, Ross A., primary, Ladouceur, Virginie Beauséjour, additional, Green, Martin S., additional, Joza, Jacqueline, additional, Juurlink, David N., additional, Krahn, Andrew D., additional, McMurtry, M. Sean, additional, Roberts, Jason D., additional, Roston, Thomas M., additional, Sanatani, Shubhayan, additional, Steinberg, Christian, additional, and MacIntyre, Ciorsti, additional

Published
2023
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44. Patterns of Electrocardiographic Abnormalities in Children with Hypertrophic Cardiomyopathy

Author

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

Published
2023
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45. Early Repolarization Pattern Inheritance in the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER)

Author

Malhi, Navraj, So, Petsy P., Cheung, Christopher C., Laksman, Zachary W.M., Healey, Jeffrey S., Chauhan, Vijay S., Green, Martin S., Champagne, Jean, Steinberg, Christian, Sanatani, Shubhayan, Angaran, Paul, Duff, Henry, Roberts, Jason D., Arbour, Laura, Leather, Richard, Simpson, Christopher S., Tadros, Rafik, Talajic, Mario, Gardner, Martin, Siefer, Colette, and Krahn, Andrew D.

Published
2018
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46. Life-Threatening Event Risk in Children With Wolff-Parkinson-White Syndrome: A Multicenter International Study

Author

Etheridge, Susan P., Escudero, Carolina A., Blaufox, Andrew D., Law, Ian H., Dechert-Crooks, Brynn E., Stephenson, Elizabeth A., Dubin, Anne M., Ceresnak, Scott R., Motonaga, Kara S., Skinner, Jonathan R., Marcondes, Luciana D., Perry, James C., Collins, Kathryn K., Seslar, Stephen P., Cabrera, Michel, Uzun, Orhan, Cannon, Bryan C., Aziz, Peter F., Kubuš, Peter, Tanel, Ronn E., Valdes, Santiago O., Sami, Sara, Kertesz, Naomi J., Maldonado, Jennifer, Erickson, Christopher, Moore, Jeremy P., Asakai, Hiroko, Mill, LuAnn, Abcede, Mark, Spector, Zebulon Z., Menon, Shaji, Shwayder, Mark, Bradley, David J., Cohen, Mitchell I., and Sanatani, Shubhayan

Published
2018
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49. Impact of Obesity on Left Ventricular Thickness in Children with Hypertrophic Cardiomyopathy

Author

Balaji, Seshadri, DiLorenzo, 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, Erickson, Christopher C., Moore, Jeremy P., Nakano, Stephanie J., Singh, Harinder R., Chang, Philip, Cohen, Mitchell, Fournier, Anne, Ilina, Maria V., Smith, Richard T., Zimmerman, Frank, Horndasch, Michaela, Li, Walter, Batra, Anjan, Liberman, Leonardo, Hamilton, Robert, Janson, Christopher M., Sanatani, Shubhayan, Zeltser, Ilana, McDaniel, George, Blaufox, Andrew D., Garnreiter, Jason M., Katcoff, Hannah, and Shah, Maully

Published
2019
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