Search

Your search keyword '"Zienciuk-Krajka A"' showing total 7 results
Start Over Author "Zienciuk-Krajka A" Publisher elsevier bv
7 results on '"Zienciuk-Krajka A"'

2. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

Author

Mazzanti, Andrea, primary, Guz, Dmitri, additional, Trancuccio, Alessandro, additional, Pagan, Eleonora, additional, Kukavica, Deni, additional, Chargeishvili, Tekla, additional, Olivetti, Natalia, additional, Biernacka, Elżbieta Katarzyna, additional, Sacilotto, Luciana, additional, Sarquella-Brugada, Georgia, additional, Campuzano, Oscar, additional, Nof, Eyal, additional, Anastasakis, Aristides, additional, Sansone, Valeria A., additional, Jimenez-Jaimez, Juan, additional, Cruz, Fernando, additional, Sánchez-Quiñones, Jessica, additional, Hernandez-Afonso, Julio, additional, Fuentes, Maria Eugenia, additional, Średniawa, Beata, additional, Garoufi, Anastasia, additional, Andršová, Irena, additional, Izquierdo, Maite, additional, Marinov, Rumen, additional, Danon, Asaf, additional, Expósito-García, Victor, additional, Garcia-Fernandez, Amaya, additional, Muñoz-Esparza, Carmen, additional, Ortíz, Martín, additional, Zienciuk-Krajka, Agnieszka, additional, Tavazzani, Elisa, additional, Monteforte, Nicola, additional, Bloise, Raffaella, additional, Marino, Maira, additional, Memmi, Mirella, additional, Napolitano, Carlo, additional, Zorio, Esther, additional, Monserrat, Lorenzo, additional, Bagnardi, Vincenzo, additional, and Priori, Silvia G., additional

Published
2020
Full Text
View/download PDF

3. The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome

Author

Haruhiko Abe, Silvia G. Priori, Dan Hu, Agnieszka Zienciuk-Krajka, Yang Li, Douglas Y. Mah, Andrea Mazzanti, Naomasa Makita, Li Zhang, Gan-Xin Yan, Yaxun Sun, Michael H. Gollob, Edward P. Walsh, Jeff S. Healey, Fiorenzo Gaita, Daniel Toshio Harrell, Jihong Guo, Hector Barajas-Martinez, Carla Giustetto, Ryan Pfeiffer, Harris Leopold, Charles Antzelevitch, and Jiancheng Zhang

Subjects
Adult, Male, Quinidine, ERG1 Potassium Channel, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, 030204 cardiovascular system & hematology, Ventricular tachycardia, QT interval, sudden cardiac death, Article, Sudden cardiac death, Young Adult, 03 medical and health sciences, channelopathy, 0302 clinical medicine, Physiology (medical), Internal medicine, medicine, Humans, genetics, short QT syndrome, therapy, Cardiology and Cardiovascular Medicine, Child, Genetic Association Studies, biology, business.industry, KCNE2, Arrhythmias, Cardiac, Short QT syndrome, Middle Aged, medicine.disease, Penetrance, Pedigree, HEK293 Cells, Endocrinology, Genes, Mutation, Ventricular fibrillation, Cardiology, biology.protein, Female, business, 030217 neurology & neurosurgery, medicine.drug
Abstract

Objectives This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). Background SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). Methods Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wild-type (WT) and mutant genes were transiently expressed in HEK293 cells, and currents were recorded using whole-cell patch clamp and action potential (AP) clamp techniques. Results KCNH2 -T618I was identified in 18 members of 7 unrelated families (10 men; median age: 24.0 years). All carriers showed 100% penetrance with variable expressivity. Eighteen members in 7 families had SCD. The average QTc intervals of probands and all carriers was 294.1 ± 23.8 ms and 313.2 ± 23.8 ms, respectively. Seven carriers received an implantable cardioverter-defibrillator. Quinidine with adequate plasma levels was effective in prolonging QTc intervals among 5 cases, but 3 cases still had premature ventricular contraction or nonsustained ventricular tachycardia. Bepridil successfully prevented drug-refractory ventricular fibrillation in 1 case with 19-ms prolongation of the QTc interval. Functional studies with KCNE2 revealed a significant increase of I Kr (rapidly activating delayed rectifier potassium channel) tail-current density in homozygous (119.0%) and heterozygous (74.6%) expression compared with WT. AP clamp recordings showed I Kr was larger, and peak repolarizing current occurred earlier in mutant versus WT channels. Conclusions We reported the clinical characteristics and biophysical properties of the highly frequent mutation that contributes to genetically identified SQTS probands. These findings extend our understanding of the spectrum of KCNH2 channel defects in SQTS.

Published
2017
Full Text
View/download PDF

4. The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome

Author

Hu, Dan, primary, Li, Yang, additional, Zhang, Jiancheng, additional, Pfeiffer, Ryan, additional, Gollob, Michael H., additional, Healey, Jeff, additional, Harrell, Daniel Toshio, additional, Makita, Naomasa, additional, Abe, Haruhiko, additional, Sun, Yaxun, additional, Guo, Jihong, additional, Zhang, Li, additional, Yan, Ganxin, additional, Mah, Douglas, additional, Walsh, Edward P., additional, Leopold, Harris B., additional, Giustetto, Carla, additional, Gaita, Fiorenzo, additional, Zienciuk-Krajka, Agnieszka, additional, Mazzanti, Andrea, additional, Priori, Silvia G., additional, Antzelevitch, Charles, additional, and Barajas-Martinez, Hector, additional

Published
2017
Full Text
View/download PDF

5. Novel Insight Into the Natural History of Short QT Syndrome

Author

Mazzanti, Andrea, primary, Kanthan, Ajita, additional, Monteforte, Nicola, additional, Memmi, Mirella, additional, Bloise, Raffaella, additional, Novelli, Valeria, additional, Miceli, Carlotta, additional, O'Rourke, Sean, additional, Borio, Gianluca, additional, Zienciuk-Krajka, Agnieszka, additional, Curcio, Antonio, additional, Surducan, Andreea Elena, additional, Colombo, Mario, additional, Napolitano, Carlo, additional, and Priori, Silvia G., additional

Published
2014
Full Text
View/download PDF

6. Short QT syndrome presenting with atrial fibrillation and LV hypertrophy

Author

Grzegorz Raczak, Piotr Kukla, Sebastian Stec, and Agnieszka Zienciuk-Krajka

Subjects
medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, Short QT syndrome, Atrial fibrillation, Cardiology and Cardiovascular Medicine, Left ventricular hypertrophy, medicine.disease, business, LV hypertrophy, QT interval
Published
2012
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results