Sudden cardiac death has long been a frightening yet poorly understood phenomenon. Its underlying cause began to be clarified through the work of the Brugada brothers, who carefully analyzed a series of patients—initially few in number but showing a pattern suggestive of a genetic origin. By systematically studying larger cohorts and publishing well-documented case series despite significant challenges, they identified a genetic alteration affecting cardiac electrical conduction, in the sodium channel now known as Brugada syndrome. This chapter explains the physiological and genetic characteristics of the syndrome, as well as the clinical suspicion, diagnosis, and therapeutic approach it requires. The Brugada brothers’ discovery opened an entirely new field in cardiogenetic, demonstrating how keen clinical observation of an unexplained phenomenon can lead to breakthroughs that transform the understanding and management of cardiovascular disease.

错误:搜索内容不能为空,请输入英文关键词
错误:关键词超出字数限制,请精简
高级检索

In Search of the Secret of Sudden Death: The Brugada Syndrome

  • Pedro Brugada,
  • Josep Brugada,
  • Ramón Brugada

摘要

Sudden cardiac death has long been a frightening yet poorly understood phenomenon. Its underlying cause began to be clarified through the work of the Brugada brothers, who carefully analyzed a series of patients—initially few in number but showing a pattern suggestive of a genetic origin. By systematically studying larger cohorts and publishing well-documented case series despite significant challenges, they identified a genetic alteration affecting cardiac electrical conduction, in the sodium channel now known as Brugada syndrome. This chapter explains the physiological and genetic characteristics of the syndrome, as well as the clinical suspicion, diagnosis, and therapeutic approach it requires. The Brugada brothers’ discovery opened an entirely new field in cardiogenetic, demonstrating how keen clinical observation of an unexplained phenomenon can lead to breakthroughs that transform the understanding and management of cardiovascular disease.