Cardiac sodium channel disorders: One gene with many genetic variants leading to many cardiac phenotypes

摘要

The field of molecular arrhythmology has progressed at an impressive pace during the past 20 years. This is mainly the result of outstanding collaboration between cardiologists, arrhythmia specialists, molecular and medical geneticists, biophysicists, and physiologists from many different countries. Throughout the years, we have learned more and more about the genetic factors and molecular mechanisms underlying electrical abnormalities of the heart, such as congenital long QT syndrome (LQTS) and Bru-gada syndrome. In several cases (ie, risk stratification of LQTS patients), this new knowledge has led to a clear clinical benefit. Since, in most cases, the genes that are found to be mutated are encoding either the pore-forming subunit of cardiac ion channels or of ion channel regulatory proteins, the term "genetic cardiac channelopathies" has been used to define these disorders.