Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2957804 | Journal of Arrhythmia | 2013 | 5 Pages |
Abstract
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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Authors
Hiroshi Kawakami, Takeshi Aiba, Tadakatsu Yamada, Hideki Okayama, Yukio Kazatani, Kyoko Konishi, Ikutaro Nakajima, Koji Miyamoto, Yuko Yamada, Hideo Okamura, Takashi Noda, Kazuhiro Satomi, Shiro Kamakura, Naomasa Makita, Wataru Shimizu,