Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death

  title={Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death},
  author={Charles Antzelevitch and Guido D. Pollevick and Jonathan M. Cordeiro and {\'O}scar Casis and Michael C Sanguinetti and Yoshiyasu Aizawa and Alejandra Guerchicoff and Ryan Pfeiffer and Antonio Oliva and Bernd Wollnik and Philip Gelber and Elias P. Bonaros and Elena Burashnikov and Yue Sheng Wu and John D Sargent and Stefan Schickel and R. Oberheiden and Atul Bhatia and Li Fern Hsu and Michel Ha{\"i}ssaguerre and Rainer Schimpf and Martin Borggrefe and Christian Wolpert},
Background— Cardiac ion channelopathies are responsible for an ever-increasing number and diversity of familial cardiac arrhythmia syndromes. We describe a new clinical entity that consists of an ST-segment elevation in the right precordial ECG leads, a shorter-than-normal QT interval, and a history of sudden cardiac death. Methods and Results— Eighty-two consecutive probands with Brugada syndrome were screened for ion channel gene mutations with direct sequencing. Site-directed mutagenesis was… 

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  • W. Shimizu
  • Biology, Medicine
    Journal of electrocardiology
  • 2005
Any intervention that increases outward currents or decreases inward currents at the end of phase 1 of the AP can accentuate or unmask ST-segment elevation, similar to that found in the Brugada syndrome, thus producing acquired forms of the Bragada syndrome.