Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms

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概要

• 論文の詳細を見る

• The novel SCN5A mutation L212P was identified in the proband (age 11 years) and his father. The father was in normal sinus rhythm. The proband had no P waves on surface ECG, and his right atrium could not be captured by pacing. The recombinant L212P Na channel showed a large hyperpolarizing shift in both the voltage dependence of activation (WT: −48.1 ± 0.9 mV; L212P: −63.5 ± 1.5 mV; P < .001) and inactivation (WT: −86.6 ± 0.9 mV; L212P: −95.6 ± 0.8 mV; P < .001) and delayed recovery from inactivation. Further screenings for genetic variations that might mitigate L212P dysfunction revealed that the proband, but not his father, carries Cx40 polymorphisms inherited from his asymptomatic mother.

• Heart Rhythm Society Published by Elsevier Inc.の論文

著者

• Yokoshiki Hisashi

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Makita Naomasa

  Japanese Brugada Multicenter Registry By The Minister Of Health Labour And Welfare National Cardiova

• Makita Naomasa

  Deaprtment Of Cardiovascular Medicine Hokaido University Graduate School Of Medicine

• Yokota Takashi

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Tsutsui Hiroyuki

  Department Of Cardiovascular Medicine

• Sasaki Koji

  Sohen Central Hospital

• Sasaki Kohji

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Tsutsui Hiroyuki

  Department Of Cardiovascular Medicine Kyushu University Graduate School Of Medical Sciences

• Nakazawa Makoto

  Pediatric And Lifelong Congenital Cardiology Institute Southern Tohoku General Hospital

• Yokoi Hisataka

  Department Of Cardiovascular Medicine Hokkaido University Graduate School Of Medicine

• Tsutsui Hiroyuki

  Department Of Cardiovascular Medicine Hokkaido University Hospital

• Makita Naomasa

  Department Of Cadiovascular Medicine Hokkaido University Graduate School Fo Medicine

• Tsutsui Hiroyuki

  Departments Of Cardiovascular Medicine Graduate School Of Medical Sciences Kyushu University:japanese Coronary Intervention Study (jcis) Group

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