Ackerman Michael J
Long QT Syndrome Clinic and Sudden Death Genomics Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA.
Semin Pediatr Neurol. 2005 Mar;12(1):52-8. doi: 10.1016/j.spen.2005.02.002.
The sentinel descriptions of congenital long QT syndrome (LQTS) under the eponyms of Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome were provided in 1957 and the early 1960s. In 1995, the discipline of cardiac channelopathies was birthed formally with the landmark discoveries of cardiac channel mutations as the pathogenic basis for LQTS. Over the past decade, the discipline has expanded considerably being comprised of at least a dozen distinct heritable arrhythmia syndromes, several disease-susceptibility genes, and hundreds of implicated mutations. Previously confined to the purview of research testing, diagnostic genetic testing for several channelopathies is now available for routine clinical use.
1957年和20世纪60年代初，以耶尔韦尔和朗格 - 尼尔森综合征以及罗曼诺 - 沃德综合征之名对先天性长QT综合征（LQTS）进行了首批描述。1995年，随着心脏通道突变作为LQTS致病基础的重大发现，心脏离子通道病学科正式诞生。在过去十年中，该学科有了相当大的发展，至少包括十几种不同的遗传性心律失常综合征、几个疾病易感基因以及数百个相关突变。以前仅限于研究检测范围，现在几种离子通道病的诊断性基因检测已可用于常规临床应用。
