5 results on '"Kukavica D"'
Search Results
2. Independent validation and clinical implications of the risk prediction model for long QT syndrome (1-2-3-LQTS-Risk)
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Alessandro Trancuccio, Vincenzo Bagnardi, Meng Wang, Andrea Mazzanti, Wojciech Zareba, Silvia G. Priori, Muhammed Mohsin, Derick R. Peterson, Deni Kukavica, Eleonora Pagan, Mazzanti, A, Trancuccio, A, Kukavica, D, Pagan, E, Wang, M, Mohsin, M, Peterson, D, Bagnardi, V, Zareba, W, and Priori, S
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medicine.medical_specialty ,Risk model ,medicine.medical_treatment ,Long QT syndrome ,QT interval ,Implantable cardioverter-defibrillator ,Sudden cardiac death ,Electrocardiography ,Risk Factors ,Physiology (medical) ,Internal medicine ,medicine ,Humans ,Longitudinal Studies ,Prospective Studies ,Risk stratification ,Framingham Risk Score ,business.industry ,Arrhythmias, Cardiac ,medicine.disease ,Confidence interval ,Long QT Syndrome ,Death, Sudden, Cardiac ,Cohort ,Number needed to treat ,Cardiology and Cardiovascular Medicine ,business - Abstract
Aims Risk stratification of patients with long QT syndrome (LQTS) represents a difficult task. In 2018, we proposed a granular estimate of the baseline 5-year risk of life-threatening arrhythmias (LAE) for patients with LQTS, based on the genotype (long QT syndrome Type 1, long QT syndrome Type 2, and long QT syndrome Type 3) and the duration of the QTc interval. We sought to externally validate a novel risk score model (1-2-3-LQTS-Risk model) in a geographically diverse cohort from the USA and to evaluate its performance and assess potential clinical implication of this novel model. Methods and results The prognostic model (1-2-3-LQTS-Risk model) was derived using data from a prospective, single-centre longitudinal cohort study published in 2018 (discovery cohort) and was validated using an independent cohort of 1689 patients enrolled in the International LQTS Registry (Rochester NY, USA). The validation study revealed a C-index of 0.69 [95% confidence interval (CI): 0.61–0.77] in the validation cohort, when compared with C-index of 0.79 (95% CI: 0.70–0.88) in the discovery cohort. Adopting a 5-year risk ≥5%, as suggested by the ROC curve analysis as the most balanced threshold for implantable cardioverter-defibrillator (ICD) implantation, would result in a number needed to treat (NNT) of nine (NNT = 9; 95% CI: 6.3–13.6). Conclusion The 1-2-3-LQTS-Risk model, the first validated 5-year risk score model for patients with LQTS, can be used to aid clinicians to identify patients at the highest risk of LAE who could benefit most from an ICD implant and avoid unnecessary implants.
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- 2021
3. Additional diagnostic value of cardiac magnetic resonance feature tracking in patients with biopsy-proven arrhythmogenic cardiomyopathy
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Marco Guglielmo, Andrea Annoni, Rocco Mollace, Maria Elisabetta Mancini, Giuseppe Muscogiuri, Edoardo Conte, Saima Mushtaq, Elena Sommariva, Claudio Tondo, Andrea Baggiano, Mario Babbaro, Cristina Basso, Ada Collevecchio, Mark G. Rabbat, Alessio Gasperetti, Deni Kukavica, Alberto Formenti, Antonio Dello Russo, Stefania Rizzo, Daniele Andreini, Mauro Pepi, Michela Casella, Monica De Gaspari, Francesca Ricci, Stefano Scafuri, Silvia G. Priori, Andrea Igoren Guaricci, Rita Sicuso, Gianluca Pontone, Laura Fusini, Muscogiuri, G, Fusini, L, Ricci, F, Sicuso, R, Guglielmo, M, Baggiano, A, Gasperetti, A, Casella, M, Mushtaq, S, Conte, E, Annoni, A, Formenti, A, Mancini, M, Babbaro, M, Mollace, R, Collevecchio, A, Scafuri, S, Kukavica, D, Andreini, D, Basso, C, Rizzo, S, De Gaspari, M, Priori, S, Dello Russo, A, Tondo, C, Pepi, M, Sommariva, E, Rabbat, M, Guaricci, A, and Pontone, G
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medicine.medical_specialty ,Magnetic Resonance Spectroscopy ,Myocardial biopsy ,Arrhythmogenic cardiomyopathy ,Myocardial strain ,Biopsy ,Cardiomyopathy ,Contrast Media ,Magnetic Resonance Imaging, Cine ,Gadolinium ,Ventricular Function, Left ,Predictive Value of Tests ,Internal medicine ,medicine ,Humans ,Late gadolinium enhancement ,In patient ,cardiovascular diseases ,Ejection fraction ,medicine.diagnostic_test ,business.industry ,Stroke Volume ,medicine.disease ,cardiovascular system ,Cardiology ,Feature tracking ,Cardiomyopathies ,Cardiology and Cardiovascular Medicine ,business ,Cardiac magnetic resonance ,circulatory and respiratory physiology - Abstract
Background: We aim to evaluate the value of Cardiac magnetic resonance (CMR) feature tracking (CMR-FT) in addition to Task Force Criteria(TFC) in patients with (arrhythmogenic cardiomyopathy) AC biopsy-proved. Methods: Thirty-five patients with AC histologically proven who performed CMR with late gadolinium enhancement (LGE) acquisition were enrolled. The study population was divided in Group1 (negative CMR TFC and LV ejection fraction≥55%) and Group2 (positive CMR TFC and/or LVEF
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- 2021
4. An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition
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Julia Cadrin-Tourigny, Dan M. Roden, Valentina Kutyifa, Henry J. Duff, Robert M. Gow, Marco V Perez, Eric Vittinghoff, Wataru Shimizu, Birgit Stallmeyer, Linda M. Knight, Lia Crotti, Michael H. Gollob, Silvia G. Priori, Rafik Tadros, Juan Pablo Kaski, Gregory M. Marcus, S. Yukiko Asaki, Thomas M. Roston, Sharmila Udupa, Takeshi Aiba, Deni Kukavica, Peter J. Schwartz, Nikhil Chavali, M. Benjamin Shoemaker, Carla Spazzolini, Christopher S. Simpson, Fabrizio Drago, Yanushi D. Wijeyeratne, J. Martijn Bos, Sven Dittmann, John R. Giudicessi, Eric Schulze-Bahr, Peter S. Fischbach, Anwar Baban, Keiko Shimamoto, Arthur A. M. Wilde, Jonathan R. Skinner, Jason D. Roberts, Brynn E. Dechert, Peter F. Aziz, Andrew P. Landstrom, Andrea Mazzanti, Elijah R. Behr, Jacob Tfelt-Hansen, Dominic Abrams, Elizabeth S. Kaufman, Izabela Tuleta, Alison Muir, Maisoon D. Yousif, Lorne J. Gula, Michael J. Ackerman, Wojciech Zareba, Imane El Hajjaji, Christopher L. Johnsrude, Melvin M. Scheinman, Susan P. Etheridge, Peter Leong-Sit, Luciana Marcondes, Andrew D. Krahn, Cardiology, ACS - Heart failure & arrhythmias, Roberts, J, Asaki, S, Mazzanti, A, Bos, J, Tuleta, I, Muir, A, Crotti, L, Krahn, A, Kutyifa, V, Shoemaker, M, Johnsrude, C, Aiba, T, Marcondes, L, Baban, A, Udupa, S, Dechert, B, Fischbach, P, Knight, L, Vittinghoff, E, Kukavica, D, Stallmeyer, B, Giudicessi, J, Spazzolini, C, Shimamoto, K, Tadros, R, Cadrin-Tourigny, J, Duff, H, Simpson, C, Roston, T, Wijeyeratne, Y, El Hajjaji, I, Yousif, M, Gula, L, Leong-Sit, P, Chavali, N, Landstrom, A, Marcus, G, Dittmann, S, Wilde, A, Behr, E, Tfelt-Hansen, J, Scheinman, M, Perez, M, Kaski, J, Gow, R, Drago, F, Aziz, P, Abrams, D, Gollob, M, Skinner, J, Shimizu, W, Kaufman, E, Roden, D, Zareba, W, Schwartz, P, Schulze-Bahr, E, Etheridge, S, Priori, S, and Ackerman, M
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Male ,Proband ,Potassium Channels ,Penetrance ,Cardiorespiratory Medicine and Haematology ,030204 cardiovascular system & hematology ,Cardiovascular ,Sudden cardiac death ,Electrocardiography ,0302 clinical medicine ,Genotype ,2.1 Biological and endogenous factors ,Medicine ,genetics ,Registries ,Aetiology ,0303 health sciences ,Hazard ratio ,Voltage-Gated ,Middle Aged ,Death ,Heart Disease ,Public Health and Health Services ,Female ,Cardiology and Cardiovascular Medicine ,Cardiac ,Adult ,medicine.medical_specialty ,Adolescent ,Long QT syndrome ,Clinical Trials and Supportive Activities ,Clinical Sciences ,Electric Countershock ,BIO/18 - GENETICA ,arrhythmia ,QT interval ,Article ,sudden cardiac death ,03 medical and health sciences ,Clinical Research ,Physiology (medical) ,Internal medicine ,Genetics ,long QT syndrome ,Humans ,penetrance ,030304 developmental biology ,business.industry ,Proportional hazards model ,Human Genome ,MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE ,medicine.disease ,Sudden ,Heart Arrest ,Cardiovascular System & Hematology ,genetic ,business - Abstract
Background: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration. Methods: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death. Results: A total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P P =0.001). Event incidence did not differ significantly for Type 2 Jervell and Lange-Nielsen syndrome patients relative to the overall heterozygous cohort (10.5% [2/19]; HR 1.7 [95% CI, 0.3–10.8], P =0.590). The cumulative prevalence of the 32 KCNE1 variants in the Genome Aggregation Database, which is a human database of exome and genome sequencing data from now over 140 000 individuals, was 238-fold greater than the anticipated prevalence of all LQT5 combined (0.238% vs 0.001%). Conclusions: The present study suggests that putative/confirmed loss-of-function KCNE1 variants predispose to QT prolongation, however, the low ECG penetrance observed suggests they do not manifest clinically in the majority of individuals, aligning with the mild phenotype observed for Type 2 Jervell and Lange-Nielsen syndrome patients.
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- 2020
5. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1
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Eyal Nof, Fernando E.S. Cruz, Victor Expósito-García, Luciana Sacilotto, Andrea Mazzanti, Jessica Sánchez-Quiñones, Elżbieta Katarzyna Biernacka, Esther Zorio, Deni Kukavica, Carmen Muñoz-Esparza, Julio Hernandez-Afonso, Elisa Tavazzani, Oscar Campuzano, Asaf Danon, Juan Jiménez-Jáimez, Martín Ortiz, Tekla Chargeishvili, Lorenzo Monserrat, Agnieszka Zienciuk-Krajka, Aristides Anastasakis, Carlo Napolitano, Eleonora Pagan, Maira Marino, Dmitri Guz, Amaya Garcia-Fernandez, Mirella Memmi, Beata Średniawa, Natália Olivetti, Valeria A. Sansone, Rumen Marinov, Georgia Sarquella-Brugada, Maite Izquierdo, Nicola Monteforte, Raffaella Bloise, María Eugenia Fuentes, Irena Andršová, Vincenzo Bagnardi, Silvia G. Priori, Alessandro Trancuccio, Anastasia Garoufi, Mazzanti, A, Guz, D, Trancuccio, A, Pagan, E, Kukavica, D, Chargeishvili, T, Olivetti, N, Biernacka, E, Sacilotto, L, Sarquella-Brugada, G, Campuzano, O, Nof, E, Anastasakis, A, Sansone, V, Jimenez-Jaimez, J, Cruz, F, Sanchez-Quinones, J, Hernandez-Afonso, J, Fuentes, M, Sredniawa, B, Garoufi, A, Andrsova, I, Izquierdo, M, Marinov, R, Danon, A, Exposito-Garcia, V, Garcia-Fernandez, A, Munoz-Esparza, C, Ortiz, M, Zienciuk-Krajka, A, Tavazzani, E, Monteforte, N, Bloise, R, Marino, M, Memmi, M, Napolitano, C, Zorio, E, Monserrat, L, Bagnardi, V, and Priori, S
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Male ,Databases, Factual ,Amiodarone ,030204 cardiovascular system & hematology ,Sudden cardiac death ,Electrocardiography ,0302 clinical medicine ,Interquartile range ,genetics ,030212 general & internal medicine ,Child ,sudden cardiac death, genetics, inherited arrhythmias, KCNJ2, life-threatening arrhythmic events ,Andersen Syndrome ,Muscle Weakness ,Hazard ratio ,Middle Aged ,3. Good health ,Defibrillators, Implantable ,Natural history ,Child, Preschool ,Risk stratification ,Cohort ,Female ,Cardiology and Cardiovascular Medicine ,Anti-Arrhythmia Agents ,inherited arrhythmias ,medicine.drug ,Adult ,medicine.medical_specialty ,Adolescent ,Adrenergic beta-Antagonists ,Risk Assessment ,sudden cardiac death ,Syncope ,life- threatening arrhythmic events ,03 medical and health sciences ,Young Adult ,Andersen–Tawil syndrome ,Internal medicine ,medicine ,Humans ,Genetic Testing ,KCNJ2 ,Potassium Channels, Inwardly Rectifying ,KCNJ2, genetics, inherited arrhythmias, life-threatening arrhythmic events, sudden cardiac death ,business.industry ,Infant ,Arrhythmias, Cardiac ,medicine.disease ,life-threatening arrhythmic events ,Death, Sudden, Cardiac ,Mutation ,Tachycardia, Ventricular ,business - Abstract
BACKGROUND Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS We enrolled 118 patients with ATS1 from 57 families (age 23 +/- 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1. (C) 2020 Published by Elsevier on behalf of the American College of Cardiology Foundation.
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- 2019
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