Search Results - "PRIORI, Silvia G"

Genetics of Sudden Cardiac Death by Bezzina, Connie R, Lahrouchi, Najim, Priori, Silvia G

“…Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important cause of mortality in the general population. Genetic studies…”
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Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy by Smith, Eric D., Lakdawala, Neal K., Papoutsidakis, Nikolaos, Aubert, Gregory, Mazzanti, Andrea, McCanta, Anthony C., Agarwal, Prachi P., Arscott, Patricia, Dellefave-Castillo, Lisa M., Vorovich, Esther E., Nutakki, Kavitha, Wilsbacher, Lisa D., Priori, Silvia G., Jacoby, Daniel L., McNally, Elizabeth M., Helms, Adam S.

“…BACKGROUND:Mutations in desmoplakin (DSP), the primary force transducer between cardiac desmosomes and intermediate filaments, cause an arrhythmogenic form of…”
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Inherited Dysfunction of Sarcoplasmic Reticulum Ca2+ Handling and Arrhythmogenesis by Priori, Silvia G, Chen, S.R Wayne

“…Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease occurring in patients with a structurally normal heartthe…”
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Gene-Specific Therapy With Mexiletine Reduces Arrhythmic Events in Patients With Long QT Syndrome Type 3 by Mazzanti, Andrea, MD, Maragna, Riccardo, BS, Faragli, Alessandro, MD, Monteforte, Nicola, MD, Bloise, Raffaella, MD, Memmi, Mirella, PhD, Novelli, Valeria, PhD, Baiardi, Paola, PhD, Bagnardi, Vincenzo, PhD, Etheridge, Susan P., MD, Napolitano, Carlo, MD, PhD, Priori, Silvia G., MD, PhD

“…Abstract Background Long QT syndrome type 3 (LQT3) is a lethal disease caused by gain-of-function mutations in the SCN5A  gene, coding for the alpha-subunit of…”
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Inherited calcium channelopathies in the pathophysiology of arrhythmias by Venetucci, Luigi, Denegri, Marco, Napolitano, Carlo, Priori, Silvia G.

“…Abnormalities in the control of intracellular calcium are involved in several forms of inherited arrhythmias. The genetic mutations that cause these…”
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Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling by Scacchi, Simone, Pavarino, Luca F, Mazzanti, Andrea, Trancuccio, Alessandro, Priori, Silvia G, Colli Franzone, Piero

“…Long QT Syndrome type 8 (LQT8) is a cardiac arrhythmic disorder associated with Timothy Syndrome, stemming from mutations in the CACNA1C gene, particularly the…”
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Independent validation and clinical implications of the risk prediction model for long QT syndrome (1-2-3-LQTS-Risk) by Mazzanti, Andrea, Trancuccio, Alessandro, Kukavica, Deni, Pagan, Eleonora, Wang, Meng, Mohsin, Muhammad, Peterson, Derick, Bagnardi, Vincenzo, Zareba, Wojciech, Priori, Silvia G

“…Abstract Aims Risk stratification of patients with long QT syndrome (LQTS) represents a difficult task. In 2018, we proposed a granular estimate of the…”
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Novel Insight Into the Natural History of Short QT Syndrome by Mazzanti, Andrea, MD, Kanthan, Ajita, MBBS, PhD, Monteforte, Nicola, MD, Memmi, Mirella, PhD, Bloise, Raffaella, MD, Novelli, Valeria, PhD, Miceli, Carlotta, MS, O'Rourke, Sean, BS, Borio, Gianluca, MS, Zienciuk-Krajka, Agnieszka, MD, Curcio, Antonio, MD, PhD, Surducan, Andreea Elena, MS, Colombo, Mario, MS, Napolitano, Carlo, MD, PhD, Priori, Silvia G., MD, PhD

“…Objectives This study intends to gain further insights into the natural history, the yield of familial and genetic screening, and the arrhythmogenic mechanisms…”
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Cardiac ryanodine receptor calcium release deficiency syndrome by Sun, Bo, Yao, Jinjing, Ni, Mingke, Wei, Jinhong, Zhong, Xiaowei, Guo, Wenting, Zhang, Lin, Wang, Ruiwu, Belke, Darrell, Chen, Yong-Xiang, Lieve, Krystien V V, Broendberg, Anders K, Roston, Thomas M, Blankoff, Ivan, Kammeraad, Janneke A, von Alvensleben, Johannes C, Lazarte, Julieta, Vallmitjana, Alexander, Bohne, Loryn J, Rose, Robert A, Benitez, Raul, Hove-Madsen, Leif, Napolitano, Carlo, Hegele, Robert A, Fill, Michael, Sanatani, Shubhayan, Wilde, Arthur A M, Roberts, Jason D, Priori, Silvia G, Jensen, Henrik K, Chen, S R Wayne

“…Cardiac ryanodine receptor (RyR2) gain-of-function mutations cause catecholaminergic polymorphic ventricular tachycardia, a condition characterized by…”
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HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies by Ackerman, Michael J., MD, PhD, Priori, Silvia G., MD, PhD, Willems, Stephan, MD, PhD, Berul, Charles, MD, FHRS, CCDS, Brugada, Ramon, MD, PhD, Calkins, Hugh, MD, FHRS, CCDS, Camm, A. John, MD, FHRS, Ellinor, Patrick T., MD, PhD, Gollob, Michael, MD, Hamilton, Robert, MD, CCDS, Hershberger, Ray E., MD, Judge, Daniel P., MD, Le Marec, Hervè, MD, McKenna, William J., MD, Schulze-Bahr, Eric, MD, PhD, Semsarian, Chris, MBBS, PhD, Towbin, Jeffrey A., MD, Watkins, Hugh, MD, PhD, Wilde, Arthur, MD, PhD, Wolpert, Christian, MD, Zipes, Douglas P., MD, FHRS

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Beta Blocker Therapy for Long QT Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia: Are all beta blockers equivalent? by Ackerman, Michael J., MD, PhD, Priori, Silvia G., MD, PhD, Dubin, Anne, MD, FHRS, Kowey, Peter, MD, Linker, Nicholas J., MD, FHRS, Slotwiner, David, MD, FHRS, Triedman, John, MD, FHRS, CCDS, CEPS, Van Hare, George F., MD, FHRS, CCDS, CEPS, Gold, Michael R., MD, PhD, FHRS

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KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia by Deo, Makarand, Ruan, Yanfei, Pandit, Sandeep V., Shah, Kushal, Berenfeld, Omer, Blaufox, Andrew, Cerrone, Marina, Noujaim, Sami F., Denegri, Marco, Jalife, José, Priori, Silvia G.

“…We describe a mutation (E299V) in KCNJ2 , the gene that encodes the strong inward rectifier K ⁺ channel protein (Kir2.1), in an 11-y-old boy. The unique short…”
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Drugs and Brugada syndrome patients: Review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org) by Postema, Pieter G., MD, Wolpert, Christian, MD, Amin, Ahmad S., MD, Probst, Vincent, MD, PhD, Borggrefe, Martin, MD, PhD, Roden, Dan M., MD, Priori, Silvia G., MD, PhD, Tan, Hanno L., MD, PhD, Hiraoka, Masayasu, MD, PhD, Brugada, Josep, MD, PhD, Wilde, Arthur A.M., MD, PhD

“…Background Worldwide, the Brugada syndrome has been recognized as an important cause of sudden cardiac death in individuals at a relatively young age…”
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Allele Specific Silencing of Mutant mRNA Rescues Ultrastructural and Arrhythmic Phenotype in Mice Carriers of the R4496C Mutation in the Ryanodine Receptor Gene (RYR2) by Bongianino, Rossana, Denegri, Marco, Mazzanti, Andrea, Lodola, Francesco, Vollero, Alessandra, Boncompagni, Simona, Fasciano, Silvia, Rizzo, Giulia, Mangione, Damiano, Barbaro, Serena, Di Fonso, Alessia, Napolitano, Carlo, Auricchio, Alberto, Protasi, Feliciano, Priori, Silvia G

“…RATIONALE:Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), a leading cause…”
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Brugada syndrome and job fitness: report of three cases by CANDURA, Stefano M., VANOLI, Daniela, MAZZANTI, Andrea, D’AMATO, Luca, PRIORI, Silvia G., SCAFA, Fabrizio

“…Brugada syndrome (BrS) is an inherited arrhythmogenic disorder predisposing patients to a high risk of sudden cardiac death. Specific guidelines on the health…”
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Genetically engineered SCN5A mutant pig hearts exhibit conduction defects and arrhythmias by Park, David S, Cerrone, Marina, Morley, Gregory, Vasquez, Carolina, Fowler, Steven, Liu, Nian, Bernstein, Scott A, Liu, Fang-Yu, Zhang, Jie, Rogers, Christopher S, Priori, Silvia G, Chinitz, Larry A, Fishman, Glenn I

“…SCN5A encodes the α subunit of the major cardiac sodium channel Na(V)1.5. Mutations in SCN5A are associated with conduction disease and ventricular…”
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Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals by Goldenberg, Ilan, MD, Horr, Samuel, MA, Moss, Arthur J., MD, Lopes, Coeli M., PhD, Barsheshet, Alon, MD, McNitt, Scott, MS, Zareba, Wojciech, MD, PhD, Andrews, Mark L., BBA, Robinson, Jennifer L., MS, Locati, Emanuela H., MD, Ackerman, Michael J., MD, PhD, Benhorin, Jesaia, MD, Kaufman, Elizabeth S., MD, Napolitano, Carlo, MD, Platonov, Pyotr G., MD, PhD, Priori, Silvia G., MD, PhD, Qi, Ming, MD, Schwartz, Peter J., MD, Shimizu, Wataru, MD, PhD, Towbin, Jeffrey A., MD, Vincent, G. Michael, MD, Wilde, Arthur A.M., MD, PhD, Zhang, Li, MD

“…Objectives This study was designed to assess the clinical course and to identify risk factors for life-threatening events in patients with long-QT syndrome…”
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Executive Summary: HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes by Priori, Silvia G., MD, PhD, Wilde, Arthur A., MD, PhD, Horie, Minoru, MD, PhD, Cho, Yongkeun, MD, PhD, Behr, Elijah R., MA, MBBS, MD, FRCP, Berul, Charles, MD, FHRS, CCDS, Blom, Nico, MD, PhD, Brugada, Josep, MD, PhD, Chiang, Chern-En, MD, PhD, Huikuri, Heikki, MD, Kannankeril, Prince, MD, Krahn, Andrew, MD, FHRS, Leenhardt, Antoine, MD, Moss, Arthur, MD, Schwartz, Peter J., MD, Shimizu, Wataru, MD, PhD, Tomaselli, Gordon, MD, FHRS, Tracy, Cynthia, MD

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Short Communication: Flecainide Exerts an Antiarrhythmic Effect in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia by Increasing the Threshold for Triggered Activity by Liu, Nian, Denegri, Marco, Ruan, Yanfei, Avelino-Cruz, José Everardo, Perissi, Andrea, Negri, Sara, Napolitano, Carlo, Coetzee, William A, Boyden, Penelope A, Priori, Silvia G

“…RATIONALE:Flecainide prevents arrhythmias in catecholaminergic polymorphic ventricular tachycardia, but the antiarrhythmic mechanism remains unresolved. It is…”
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The Structural-Functional Crosstalk of the Calsequestrin System: Insights and Pathological Implications by Marabelli, Chiara, Santiago, Demetrio J, Priori, Silvia G

“…Calsequestrin (CASQ) is a key intra-sarcoplasmic reticulum Ca -handling protein that plays a pivotal role in the contraction of cardiac and skeletal muscles…”
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