Large-scale mutation screening in sudden cardiac death (SCD)

Abstract

One of the most common causes of death in developed countries is sudden cardiac death (SC D). Structural and arrhythmogenic diseases are the main abnormalities found in SC D cases, especially in the young, and both are due to genetic heart disorders such as hypertrophic cardiomyopathy, Long QT syndrome or Brugada Syndrome. In recent years, significant advances have been made in understanding the genetic basis of SC D. We have developed a high-throughput strategy using a semi-automated MALDI-TO F mass spectrometry system for detecting the most frequent mutations in different syndromes that can result in SC D