PMID- 32153684
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200928
IS  - 1878-5409 (Electronic)
IS  - 1878-5409 (Linking)
VI  - 21
IP  - 3
DP  - 2020 Mar
TI  - SCN5A mutation and a short coupled variant of Torsades de Pointes originating 
      from the right ventricle: A case report.
PG  - 104-105
LID - 10.1016/j.jccase.2019.11.001 [doi]
AB  - A 40-year-old male visited our institute complaining of transient loss of 
      consciousness. He had been implanted with an implantable cardioverter 
      defibrillator (ICD) due to idiopathic ventricular fibrillation for secondary 
      prevention. His past genetic screening detected a single nucleotide SCN5A 
      mutation (pR18Q), while neither QT prolongation nor ST segment elevation in the 
      right precordial leads was observed. An interrogation of the ICD revealed that a 
      shock therapy successfully terminated ventricular fibrillation at the time 
      syncope occurred. His electrocardiogram revealed ventricular premature 
      contractions (VPCs) with a short coupling interval of 250 ms. Since the 
      spontaneous occurrence of non-sustained polymorphic ventricular tachycardia 
      following the same VPCs was observed after admission, he was diagnosed with a 
      short-coupled variant of Torsades de Pointes (ScTdP). Contact mapping on the 
      basal inferior right ventricular free wall, exhibiting the earliest activation, 
      revealed pre-potentials preceding the QRS by 30 ms during the VPCs. 
      Radiofrequency ablation was performed to reduce the triggering VPCs. To the best 
      of our knowledge, this is the first report describing a case of ScTdP harboring 
      an SCN5A mutation. The present N-terminally mutated SCN5A was originally reported 
      in relation to Brugada syndrome, whereas the detailed mechanism remains to be 
      elucidated. <: Learning objective: The fundamental genetic disorders of 
      short-coupled variant of Torsades de Pointes (ScTdP) are not clear. The present 
      case harboring a mutation of SCN5A exhibited no long-QT or Brugada syndrome, 
      which may implicate an unknown mechanism of the development of ScTdP.>.
CI  - (c) 2019 Japanese College of Cardiology. Published by Elsevier Ltd. All rights 
      reserved.
FAU - Kajiyama, Takatsugu
AU  - Kajiyama T
AD  - Department of Cardiovascular Medicine, Chiba University Graduate School of 
      Medicine, Chiba, Japan.
FAU - Miyazawa, Kazuo
AU  - Miyazawa K
AD  - Department of Cardiovascular Medicine, Chiba University Graduate School of 
      Medicine, Chiba, Japan.
FAU - Kondo, Yusuke
AU  - Kondo Y
AD  - Department of Advanced Cardiovascular Therapeutics, Chiba University Graduate 
      School of Medicine, Chiba, Japan.
FAU - Nakano, Masahiro
AU  - Nakano M
AD  - Department of Advanced Cardiovascular Therapeutics, Chiba University Graduate 
      School of Medicine, Chiba, Japan.
FAU - Kobayashi, Yoshio
AU  - Kobayashi Y
AD  - Department of Cardiovascular Medicine, Chiba University Graduate School of 
      Medicine, Chiba, Japan.
LA  - eng
PT  - Case Reports
DEP - 20191122
PL  - Japan
TA  - J Cardiol Cases
JT  - Journal of cardiology cases
JID - 101549579
PMC - PMC7054653
OTO - NOTNLM
OT  - NaV1.5
OT  - Polymorphic ventricular tachycardia
OT  - SCN5A
OT  - Sodium channel
OT  - Torsade de Pointes
OT  - Ventricular fibrillation
EDAT- 2020/03/11 06:00
MHDA- 2020/03/11 06:01
PMCR- 2019/11/22
CRDT- 2020/03/11 06:00
PHST- 2019/07/09 00:00 [received]
PHST- 2019/10/08 00:00 [revised]
PHST- 2019/10/27 00:00 [accepted]
PHST- 2020/03/11 06:00 [entrez]
PHST- 2020/03/11 06:00 [pubmed]
PHST- 2020/03/11 06:01 [medline]
PHST- 2019/11/22 00:00 [pmc-release]
AID - S1878-5409(19)30110-0 [pii]
AID - 10.1016/j.jccase.2019.11.001 [doi]
PST - epublish
SO  - J Cardiol Cases. 2019 Nov 22;21(3):104-105. doi: 10.1016/j.jccase.2019.11.001. 
      eCollection 2020 Mar.