Journal of Arrhythmia (Oct 2013)

Variable phenotype expression with a frameshift mutation of the cardiac sodium channel gene SCN5A

  • Hiroshi Kawakami, MD,
  • Takeshi Aiba, MD, PhD,
  • Tadakatsu Yamada, MD, PhD,
  • Hideki Okayama, MD, PhD,
  • Yukio Kazatani, MD, PhD,
  • Kyoko Konishi, MD, PhD,
  • Ikutaro Nakajima, MD,
  • Koji Miyamoto, MD,
  • Yuko Yamada, MD,
  • Hideo Okamura, MD,
  • Takashi Noda, MD, PhD,
  • Kazuhiro Satomi, MD, PhD,
  • Shiro Kamakura, MD, PhD,
  • Naomasa Makita, MD, PhD,
  • Wataru Shimizu, MD, PhD

DOI
https://doi.org/10.1016/j.joa.2013.04.005
Journal volume & issue
Vol. 29, no. 5
pp. 291 – 295

Abstract

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Loss-of-function mutations in the cardiac sodium channel α-subunit gene SCN5A result in multiple inherited arrhythmic syndromes. This case report describes 2 unrelated probands carrying an identical SCN5A frameshift mutation, V1764fsX1786, who exhibited distinct clinical manifestations: progressive cardiac conduction defect (PCCD)/Brugada syndrome (patient #1) and idiopathic ventricular fibrillation (IVF) (patient #2). Using a whole-cell patch clamp technique, cells expressing V1764fsX1786 showed no observable Na+ current. Therefore, a significant phenotypic overlap was found between IVF and PCCD/Brugada syndrome in the 2 probands with the V1764fsX1786, loss-of-function frameshift mutation of the cardiac sodium channel gene SCN5A.

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