Literature DB >> 23094885

A family with recurrent sudden death and no clinical clue.

Michael Arad1, Michael Glikson, Dalia El-Ani, Lorenzo Monserrat-Inglesias.   

Abstract

BACKGROUND: Sudden cardiac death of a child is a devastating event for the family and an enormous challenge for the attending physician. METHODS AND
RESULTS: We report a family with repeat events of sudden cardiac death and recurrent ventricular fibrillation in a teenage girl, where autopsy data and clinical investigations were inconclusive. The diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) was established only following finding a gene mutation in the cardiac ryanodine receptor.
CONCLUSIONS: Interpretation of autopsy data, provocation testing and genetic testing in victims of sudden death and family members are discussed to correctly identify the cause and properly manage asymptomatic carriers in such families. ©2012, Wiley Periodicals, Inc.

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23094885      PMCID： PMC6932698          DOI： 10.1111/anec.12024

Source DB:  PubMed          Journal:  Ann Noninvasive Electrocardiol        ISSN： 1082-720X            Impact factor:   1.468


  17 in total

1.  Gene symbol: RYR2. Disease: Arrhythmogenic right ventricular cardiomyopathy type 2.

Authors:  N Tiso; B Bauce; A Rampazzo; A Bagattin; A Nava; G A Danieli
Journal:  Hum Genet       Date:  2004-03       Impact factor: 4.132

Review 2.  Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond.

Authors:  Guy Katz; Michael Arad; Michael Eldar
Journal:  Curr Probl Cardiol       Date:  2009-01       Impact factor: 5.200

3.  Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.

Authors:  Hanno L Tan; Nynke Hofman; Irene M van Langen; Allard C van der Wal; Arthur A M Wilde
Journal:  Circulation       Date:  2005-07-05       Impact factor: 29.690

4.  Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia.

Authors:  Christian van der Werf; Prince J Kannankeril; Frederic Sacher; Andrew D Krahn; Sami Viskin; Antoine Leenhardt; Wataru Shimizu; Naokata Sumitomo; Frank A Fish; Zahurul A Bhuiyan; Albert R Willems; Maurits J van der Veen; Hiroshi Watanabe; Julien Laborderie; Michel Haïssaguerre; Björn C Knollmann; Arthur A M Wilde
Journal:  J Am Coll Cardiol       Date:  2011-05-31       Impact factor: 24.094

5.  Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia.

Authors:  Raymond W Sy; Michael H Gollob; George J Klein; Raymond Yee; Allan C Skanes; Lorne J Gula; Peter Leong-Sit; Robert M Gow; Martin S Green; David H Birnie; Andrew D Krahn
Journal:  Heart Rhythm       Date:  2011-02-09       Impact factor: 6.343

6.  Postpacing abnormal repolarization in catecholaminergic polymorphic ventricular tachycardia associated with a mutation in the cardiac ryanodine receptor gene.

Authors:  Eyal Nof; Bernard Belhassen; Michael Arad; Zahurul A Bhuiyan; Charles Antzelevitch; Raphael Rosso; Rami Fogelman; David Luria; Dalia El-Ani; Marcel M A M Mannens; Sami Viskin; Michael Eldar; Arthur A M Wilde; Michael Glikson
Journal:  Heart Rhythm       Date:  2011-05-26       Impact factor: 6.343

7.  Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER).

Authors:  Andrew D Krahn; Jeffrey S Healey; Vijay Chauhan; David H Birnie; Christopher S Simpson; Jean Champagne; Martin Gardner; Shubhayan Sanatani; Derek V Exner; George J Klein; Raymond Yee; Allan C Skanes; Lorne J Gula; Michael H Gollob
Journal:  Circulation       Date:  2009-07-13       Impact factor: 29.690

8.  Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.

Authors:  Zahurul A Bhuiyan; Maarten P van den Berg; J Peter van Tintelen; Margreet T E Bink-Boelkens; Ans C P Wiesfeld; Marielle Alders; Alex V Postma; Irene van Langen; Marcel M A M Mannens; Arthur A M Wilde
Journal:  Circulation       Date:  2007-09-17       Impact factor: 29.690

9.  The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Authors:  Argelia Medeiros-Domingo; Zahurul A Bhuiyan; David J Tester; Nynke Hofman; Hennie Bikker; J Peter van Tintelen; Marcel M A M Mannens; Arthur A M Wilde; Michael J Ackerman
Journal:  J Am Coll Cardiol       Date:  2009-11-24       Impact factor: 24.094

10.  Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers.

Authors:  Barbara Bauce; Alessandra Rampazzo; Cristina Basso; Alessia Bagattin; Luciano Daliento; Natascia Tiso; Pietro Turrini; Gaetano Thiene; Gian Antonio Danieli; Andrea Nava
Journal:  J Am Coll Cardiol       Date:  2002-07-17       Impact factor: 24.094
View more
  6 in total

1.  RyR2R420Q catecholaminergic polymorphic ventricular tachycardia mutation induces bradycardia by disturbing the coupled clock pacemaker mechanism.

Authors:  Yue Yi Wang; Pietro Mesirca; Elena Marqués-Sulé; Alexandra Zahradnikova; Olivier Villejoubert; Pilar D'Ocon; Cristina Ruiz; Diana Domingo; Esther Zorio; Matteo E Mangoni; Jean-Pierre Benitah; Ana María Gómez
Journal:  JCI Insight       Date:  2017-04-20

2.  Functional abnormalities in iPSC-derived cardiomyocytes generated from CPVT1 and CPVT2 patients carrying ryanodine or calsequestrin mutations.

Authors:  Atara Novak; Lili Barad; Avraham Lorber; Mihaela Gherghiceanu; Irina Reiter; Binyamin Eisen; Liron Eldor; Joseph Itskovitz-Eldor; Michael Eldar; Michael Arad; Ofer Binah
Journal:  J Cell Mol Med       Date:  2015-07-08       Impact factor: 5.310

3.  SK4 K+ channels are therapeutic targets for the treatment of cardiac arrhythmias.

Authors:  Shiraz Haron-Khun; David Weisbrod; Hanna Bueno; Dor Yadin; Joachim Behar; Asher Peretz; Ofer Binah; Edith Hochhauser; Michael Eldar; Yael Yaniv; Michael Arad; Bernard Attali
Journal:  EMBO Mol Med       Date:  2017-04       Impact factor: 12.137

4.  The Hyperpolarization-Activated Cyclic-Nucleotide-Gated Channel Blocker Ivabradine Does Not Prevent Arrhythmias in Catecholaminergic Polymorphic Ventricular Tachycardia.

Authors:  Hanna Bueno-Levy; David Weisbrod; Dor Yadin; Shiraz Haron-Khun; Asher Peretz; Edith Hochhauser; Michael Arad; Bernard Attali
Journal:  Front Pharmacol       Date:  2020-01-17       Impact factor: 5.810

5.  An Optogenetic Arrhythmia Model-Insertion of Several Catecholaminergic Polymorphic Ventricular Tachycardia Mutations Into Caenorhabditis elegans UNC-68 Disturbs Calstabin-Mediated Stabilization of the Ryanodine Receptor Homolog.

Authors:  Marcial Alexander Engel; Yves René Wörmann; Hanna Kaestner; Christina Schüler
Journal:  Front Physiol       Date:  2022-03-25       Impact factor: 4.566

6.  Impaired Binding to Junctophilin-2 and Nanostructural Alteration in CPVT Mutation.

Authors:  Liheng Yin; Alexandra Zahradnikova; Riccardo Rizzetto; Josefina Ramos-Franco; Esther Zorio; Spyros Zissimopoulos; Feliciano Protasi; Jean-Pierre Benitah; Simona Boncompagni; Camille Rabesahala de Meritens; Yadan Zhang; Pierre Joanne; Elena Marqués-Sulé; Yuriana Aguilar-Sánchez; Miguel Fernández-Tenorio; Olivier Villejoubert; Linwei Li; Yue Yi Wang; Philippe Mateo; Valérie Nicolas; Pascale Gerbaud; F Anthony Lai; Romain Perrier; Julio L Álvarez; Ernst Niggli; Héctor H Valdivia; Carmen R Valdivia; Ana M Gómez
Journal:  Circ Res       Date:  2021-06-11       Impact factor: 23.213
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.