Literature DB >> 30116135

A rare cause of sudden cardiac arrest: Catecholaminergic polymorphic ventricular tachycardia.

Sezen Ugan Atik1, Firuze Erbek Alp2, Reyhan Dedeoğlu1, Aida Koka1, Funda Öztunç1, Ayşe Güler Eroğlu1.   

Abstract

Catecholaminergic polymorphic ventricular tachycardia is a rhythm disorder that develops due to genetic reasons in the absence of structural cardiac abnormalities. Ventricular tachycardia, ventricular fibrillation, cardiac arrest, and death may occur. Two-year-old patient presented to the Emergency Department with sudden cardiac arrest. He had syncope attacks after playing with his brother and he was followed up by the pediatric neurology and cardiology clinics. Cardiopulmonary resuscitation was performed, and he was then transferred to the Intensive Care Unit because of hypotension; dobutamine and norepinephrine treatment was started. After treatment, ventricular tachycardia, ventricular fibrillation, and cardiac arrest developed. Dobutamine and noradrenaline was stopped immediately and amiodarone was started. A genetic test revealed heterozygote missense mutation (c.9110G>A(p.Gly3037Asp)) in exon 64 of the RYR2 gene, which is compatible with catecholaminergic polymorphic ventricular tachycardia. This mutation has been reported in the literature for the first time. This case is presented with the purpose of highlighting catecholaminergic polymorphic ventricular tachycardia.

Entities:  

Keywords:  Catecholaminergic polymorphic ventricular tachycardia; RyR2; sudden cardiac arrest

Year:  2018        PMID: 30116135      PMCID: PMC6089791          DOI: 10.5152/TurkPediatriArs.2017.3899

Source DB:  PubMed          Journal:  Turk Pediatri Ars


  9 in total

1.  Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation.

Authors:  Jordana Kron; Kenneth Ellenbogen; Antonio Abbate
Journal:  Int J Cardiol       Date:  2015-08-05       Impact factor: 4.164

Review 2.  Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia.

Authors:  Carlo Napolitano; Silvia G Priori
Journal:  Heart Rhythm       Date:  2007-01-07       Impact factor: 6.343

Review 3.  HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.

Authors:  Silvia G Priori; Arthur A Wilde; Minoru Horie; Yongkeun Cho; Elijah R Behr; Charles Berul; Nico Blom; Josep Brugada; Chern-En Chiang; Heikki Huikuri; Prince Kannankeril; Andrew Krahn; Antoine Leenhardt; Arthur Moss; Peter J Schwartz; Wataru Shimizu; Gordon Tomaselli; Cynthia Tracy
Journal:  Heart Rhythm       Date:  2013-08-30       Impact factor: 6.343

4.  Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared with β1-selective β-blockers in patients with catecholaminergic polymorphic ventricular tachycardia.

Authors:  Ida S Leren; Jørg Saberniak; Eman Majid; Trine F Haland; Thor Edvardsen; Kristina H Haugaa
Journal:  Heart Rhythm       Date:  2015-09-30       Impact factor: 6.343

5.  A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel.

Authors:  H Lahat; E Pras; T Olender; N Avidan; E Ben-Asher; O Man; E Levy-Nissenbaum; A Khoury; A Lorber; B Goldman; D Lancet; M Eldar
Journal:  Am J Hum Genet       Date:  2001-10-25       Impact factor: 11.025

6.  Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation.

Authors:  Gaetano M De Ferrari; Veronica Dusi; Carla Spazzolini; J Martijn Bos; Dominic J Abrams; Charles I Berul; Lia Crotti; Andrew M Davis; Michael Eldar; Maria Kharlap; Asaad Khoury; Andrew D Krahn; Antoine Leenhardt; Christopher R Moir; Attilio Odero; Louise Olde Nordkamp; Thomas Paul; Ferran Rosés I Noguer; Maria Shkolnikova; Jan Till; Arthur A M Wilde; Michael J Ackerman; Peter J Schwartz
Journal:  Circulation       Date:  2015-05-27       Impact factor: 29.690

Review 7.  Genetics of inherited primary arrhythmia disorders.

Authors:  Danna A Spears; Michael H Gollob
Journal:  Appl Clin Genet       Date:  2015-09-18

8.  Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.

Authors:  Silvia G Priori; Carlo Napolitano; Peter J Schwartz; Massimiliano Grillo; Raffaella Bloise; Elena Ronchetti; Cinzia Moncalvo; Chiara Tulipani; Alessia Veia; Georgia Bottelli; Janni Nastoli
Journal:  JAMA       Date:  2004-09-15       Impact factor: 56.272

9.  Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

Authors:  Silvia G Priori; Carlo Napolitano; Mirella Memmi; Barbara Colombi; Fabrizio Drago; Maurizio Gasparini; Luciano DeSimone; Fernando Coltorti; Raffaella Bloise; Roberto Keegan; Fernando E S Cruz Filho; Gabriele Vignati; Abraham Benatar; Angelica DeLogu
Journal:  Circulation       Date:  2002-07-02       Impact factor: 29.690

  9 in total

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