1979-2004 : 25 YEARS OF THE INTERNATIONAL REGISTRYFOR THE LONG QT SYNDROME. ITS IMPACT ON KNOWLEDGE AND CLINICALMANAGEMENT

摘要

There are not many examples in medical history of a disease which has been kept outside of mainstream cardiology and regarded as an oddity for so long and then, over just a few years, with a sudden reversal has been embraced by many as a paradigm for sudden cardiac death (1).The identification at the end of March 1995 (2,3) of the first two LQTS genes followed in January 1996 by the identification of KvLQTl (4), represented a major breakthrough not only for cardiac electrophysiology but also for cardiology as a whole and paved the way for the understanding of how tight can be the relationship between molecular and clinical cardiology. Indeed, the impressive correlation between specific mutations and critical alterations in the ionic control of ventricular repolarization has made of LQTS the best example to date for the specificity and value of the correlation between genotype and phenotype (5). Until the mid-nineties most cardiologists had been unimpressed by the clinical relevance of molecular biology, but they changed their mind largely on the basis of the very rapid developments that contributed to unravel this life-threatening disorder which represents a sort of Rosetta stone for sudden cardiac death (6).