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A large deletion in RYR2 exon 3 is associated with nadolol and flecainide refractory catecholaminergic polymorphic ventricular tachycardia.

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اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
  • المؤلفون: Kohli U;Kohli U; Aziz Z; Aziz Z; Beaser AD; Beaser AD; Nayak HM; Nayak HM
  • المصدر:
    Pacing and clinical electrophysiology : PACE [Pacing Clin Electrophysiol] 2019 Aug; Vol. 42 (8), pp. 1146-1154. Date of Electronic Publication: 2019 Apr 17.
  • نوع النشر :
    Case Reports; Journal Article
  • اللغة:
    English
  • معلومة اضافية
    • المصدر:
      Publisher: Futura Pub. Co. Country of Publication: United States NLM ID: 7803944 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8159 (Electronic) Linking ISSN: 01478389 NLM ISO Abbreviation: Pacing Clin Electrophysiol Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: Mount Kisco, N. Y. : Futura Pub. Co., c1978-
    • الموضوع:
      Exons* ; Gene Deletion*; Anti-Arrhythmia Agents/*therapeutic use ; Flecainide/*therapeutic use ; Nadolol/*therapeutic use ; Ryanodine Receptor Calcium Release Channel/*genetics ; Tachycardia, Ventricular/*drug therapy ; Tachycardia, Ventricular/*genetics; Adolescent ; Humans ; Male ; Polymorphic Catecholaminergic Ventricular Tachycardia
    • نبذة مختصرة :
      We report a 17-year-old boy with a large RYR2 exon 3 deletion who has a severe catecholaminergic polymorphic ventricular tachycardia (CPVT) phenotype characterized by refractoriness to both nadolol and flecainide which has previously not been reported in this subgroup of CPVT patients. Treatment options in a patient like ours are therefore limited and sympathectomy and implantable cardioverter-defibrillator implantation should be considered early in the treatment course as was done in this patient. In contrast to other CPVT patients who do not usually have structural cardiac abnormalities, these patients are at a high risk of developing left ventricular noncompaction or dilated cardiomyopathy and therefore might benefit from cardiac imaging at regular intervals.
      (© 2019 Wiley Periodicals, Inc.)
    • Contributed Indexing:
      Keywords: RYR2 exon 3 deletion; catecholaminergic polymorphic ventricular tachycardia (CPVT); drug refractory; malignant syncope
    • الرقم المعرف:
      0 (Anti-Arrhythmia Agents)
      0 (RyR2 protein, human)
      0 (Ryanodine Receptor Calcium Release Channel)
      42200-33-9 (Nadolol)
      K94FTS1806 (Flecainide)
    • الموضوع:
      Date Created: 20190327 Date Completed: 20200720 Latest Revision: 20250103
    • الموضوع:
      20250114
    • الرقم المعرف:
      10.1111/pace.13668
    • الرقم المعرف:
      30912151