Childhood onset nexilin dilated cardiomyopathy

Autor: Luc Bruyndonckx, Eline A. Nannenberg, Saskia N. van der Crabben, Bart Straver, Marianna Bugiani, Wes Onland, Sally-Ann B. Clur, Judith L. Vogelzang, Irene M. Kuipers

Publikováno v: American Journal of Medical Genetics. Part a
Bruyndonckx, L, Vogelzang, J L, Bugiani, M, Straver, B, Kuipers, I M, Onland, W, Nannenberg, E A, Clur, S-A & van der Crabben, S N 2021, ' Childhood onset nexilin dilated cardiomyopathy : A heterozygous and a homozygous case ', American Journal of Medical Genetics Part A, vol. 185, no. 8, pp. 2464-2470 . https://doi.org/10.1002/ajmg.a.62231
American journal of medical genetics : part A
American journal of medical genetics. Part A, 185(8), 2464-2470. Wiley-Liss Inc.

Pathogenic heterozygous NEXN variants are associated with progressive dilated cardiomyopathy (DCM) usually presenting around 50 years of age. We describe an asymptomatic boy who had transient DCM at 3 months of age, that resolved by 4 months. Present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7bb1dfdd766a928c27f04db6a9f9c7e
https://doi.org/10.1002/ajmg.a.62231

Pregnancy in Catecholaminergic Polymorphic Ventricular Tachycardia

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

Publikováno v: JACC: Clinical Electrophysiology, 5(3), 387-394. Elsevier USA

Objectives This investigation was a retrospective study of catecholaminergic polymorphic ventricular tachycardia (CPVT) patients in Canada and the Netherlands to compare pregnancy, postpartum, and nonpregnant event rates. Background CPVT is character

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6ce4d3eecd9ea81722be819e15fe46c
https://doi.org/10.1016/j.jacep.2018.10.019

SCN5A Mutation Type and a Genetic Risk Score Associate Variably with Brugada Syndrome Phenotype in SCN5A Families

Autor: Peter Lichtner, Thomas Meitinger, Wataru Shimizu, Alison Muir, F. Kyndt, Michael W.T. Tanck, Seiko Ohno, Martina Muggenthaler, Michael J. Ackerman, Vincent Probst, Stephen P. Page, Jean-Jacques Schott, Silvia Castelletti, Hariharan Raju, Jean-Baptiste Gourraud, Joseph Galvin, Taisuke Ishikawa, Eline A. Nannenberg, Dan M. Roden, Doris Škorić-Milosavljević, Kazuhiro Takahashi, Pascal P. McKeown, Federica Dagradi, Lia Crotti, Yanushi D. Wijeyeratne, Julien Barc, Yuka Mizusawa, Peter J. Schwartz, Michael Papadakis, Margherita Torchio, Sanjay Sharma, Velislav N. Batchvarov, Naomasa Makita, Richard Redon, Christian Veltmann, Elijah R. Behr, Takeshi Aiba, Martin Borggrefe, Rafik Tadros, Connie R. Bezzina, J. Martijn Bos, David J. Tester, Isabelle Denjoy, Minoru Horie, Arthur A.M. Wilde

Publikováno v: Circ. Genom. Precis. Med. 13, 599-608 (2020)
Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩
Circulation: Genomic and Precision Medicine, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩
Circulation: Genomic and Precision Medicine, 599-608. Lippincott Williams and Wilkins Ltd.
STARTPAGE=599;ENDPAGE=608;ISSN=2574-8300;TITLE=Circulation: Genomic and Precision Medicine
Circulation. Genomic and Precision Medicine

Supplemental Digital Content is available in the text.
Background: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0dd4698c2a81d312e6f868f16dce14
https://openaccess.sgul.ac.uk/id/eprint/112608/1/CIRCGEN.120.002911.pdf

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

Autor: Yvonne M. Hoedemaekers, M. Ben Shoemaker, Pascale Guicheney, Antoine Leenhardt, Andrea Mazzanti, Minoru Horie, Jan H. Veldink, Isabelle Denjoy, Yu Kucho, Chiea Chuen Khor, Tomas Robyns, Carlo Napolitano, Peter Weeke, J. Martijn Bos, David J. Tester, Hanno L. Tan, Annika Rydberg, Patrick T. Ellinor, Pilar Galan, Taisuke Ishikawa, Seiko Ohno, Peter J. Schwartz, Masao Yoshinaga, Thomas Werge, Marta Ribasés, Bart Loeys, Jean-Jacques Schott, Jacob Tfelt-Hansen, Ulla-Britt Diamant, Marko Ernsting, Georgia Sarquella-Brugada, Yuka Mizusawa, Michael Christiansen, Pyotr G. Platonov, Annika Winbo, Thomas Meitinger, Keiko Shimamoto, Cristina Barlassina, Pieter G. Postema, Takeru Makiyama, Maarten P. van den Berg, Yanushi D. Wijeyeratne, Wataru Shimizu, Charles Antzelevitch, Christopher Newton-Cheh, Martina Müller-Nurasyid, Dan M. Roden, Vincent Probst, Takeshi Aiba, Lia Crotti, Daniele Cusi, Britt M. Beckmann, Johan Saenen, Peter Lichtner, Oscar Campuzano, Tin Aung, Nynke Hofman, Morten S. Olesen, Matteo Pedrazzini, Elijah R. Behr, Karen E. Morrison, Najim Lahrouchi, Katja E. Odening, Andrew D. Krahn, Kari L. Turkowski, J. Peter van Tintelen, Steven A. Lubitz, Federica Dagradi, Josep Brugada, Julien Barc, Birgit Stallmeyer, Stefan Kääb, Sven Zumhagen, Jonathan R. Skinner, Michael W.T. Tanck, Christopher Shaw, Brianna Davies, Eric Schulze-Bahr, Mineo Ozaki, Roddy Walsh, Antoine Andorin, Leonard H. van den Berg, Silvia G. Priori, Johannes Steinfurt, Jean-Baptiste Gourraud, Eline A. Nannenberg, Mark Lathrop, Rafik Tadros, Ramon Brugada, Leander Beekman, Peter M. Andersen, Ryan Pfeiffer, Boris Rudic, Reza Jabbari, Kanae Hasegawa, Jeroen Breckpot, Naomasa Makita, Michael J. Ackerman, Arthur A.M. Wilde, Hideki Itoh, Martin Borggrefe, Elena Arbelo, Connie R. Bezzina, Pamela J. Shaw, Ammar Al-Chalabi, Markus Munter

Publikováno v: Circulation, 142(4), 324-338. Lippincott Williams and Wilkins
Circulation
Circulation, American Heart Association, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Circulation, 142, 4, pp. 324-38
Lahrouchi, N, Tadros, R, Crotti, L, Mizusawa, Y, Postema, P G, Beekman, L, Walsh, R, Hasegawa, K, Barc, J, Ernsting, M, Turkowski, K L, Mazzanti, A, Beckmann, B M, Shimamoto, K, Diamant, U-B, Wijeyeratne, Y D, Kucho, Y, Robyns, T, Ishikawa, T, Arbelo, E, Christiansen, M, Winbo, A, Jabbari, R, Lubitz, S A, Steinfurt, J, Rudic, B, Loeys, B, Shoemaker, M B, Weeke, P E, Pfeiffer, R, Davies, B, Andorin, A, Hofman, N, Dagradi, F, Pedrazzini, M, Tester, D J, Bos, J M, Sarquella-Brugada, G, Campuzano, Ó, Platonov, P G, Stallmeyer, B, Zumhagen, S, Nannenberg, E A, Veldink, J H, van den Berg, L H, Al-Chalabi, A, Shaw, C E, Shaw, P J, Morrison, K E, Andersen, P M, Müller-Nurasyid, M, Cusi, D, Barlassina, C, Galan, P, Lathrop, M, Munter, M, Werge, T, Ribasés, M, Aung, T, Khor, C C, Ozaki, M, Lichtner, P, Meitinger, T, van Tintelen, J P, Hoedemaekers, Y, Denjoy, I, Leenhardt, A, Napolitano, C, Shimizu, W, Schott, J-J, Gourraud, J-B, Makiyama, T, Ohno, S, Itoh, H, Krahn, A D, Antzelevitch, C, Roden, D M, Saenen, J, Borggrefe, M, Odening, K E, Ellinor, P T, Tfelt-Hansen, J, Skinner, J R, van den Berg, M P, Olesen, M S, Brugada, J, Brugada, R, Makita, N, Breckpot, J, Yoshinaga, M, Behr, E R, Rydberg, A, Aiba, T, Kääb, S, Priori, S G, Guicheney, P, Tan, H L, Newton-Cheh, C, Ackerman, M J, Schwartz, P J, Schulze-Bahr, E, Probst, V, Horie, M, Wilde, A A, Tanck, M W T & Bezzina, C R 2020, ' Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome ', Circulation, vol. 142, no. 4, pp. 324-338 . https://doi.org/10.1161/CIRCULATIONAHA.120.045956
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Circulation 142, 324-338 (2020)
Circulation, 142(4), 324-338. LIPPINCOTT WILLIAMS & WILKINS
Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; ... (2020). Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome. Circulation, 142(4), pp. 324-338. American Heart Association 10.1161/CIRCULATIONAHA.120.045956
Circulation, 142, 324-38

Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a06b61364655bada7ed23840f1c05d61
https://pure.amc.nl/en/publications/transethnic-genomewide-association-study-provides-insights-in-the-genetic-architecture-and-heritability-of-long-qt-syndrome(4064416e-020f-4f3a-baab-fe41d1af246c).html

Yield and Pitfalls of Ajmaline Testing in the Evaluation of Unexplained Cardiac Arrest and Sudden Unexplained Death

Autor: Hanno L. Tan, Yolan J. Reckman, Doris Škorić-Milosavljević, Rafik Tadros, Krystien V.V. Lieve, Pieter G. Postema, Ahmad S. Amin, Ronald H. Lekanne Deprez, Connie R. Bezzina, Najim Lahrouchi, Arthur A.M. Wilde, Eline A. Nannenberg, Jeroen Vendrik

Publikováno v: JACC: Clinical Electrophysiology. 3:1400-1408

Objectives This study evaluated the yield of ajmaline testing and assessed the occurrence of confounding responses in a large cohort of families with unexplained cardiac arrest (UCA) or sudden unexplained death (SUD). Background Ajmaline testing to d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b7f653b932de89d9f5d2614ec871a273
https://doi.org/10.1016/j.jacep.2017.04.005