TY - JOUR
T1 - Updates on the inherited cardiac ion channelopathies
T2 - From cell to clinical
AU - Silva, Jennifer N.A.
AU - Silva, Jonathan R.
PY - 2012/10
Y1 - 2012/10
N2 - The inherited channelopathies are a rare, heterogeneous group of diseases with widely variable clinical presentations and courses. Systematic clinical and experimental work has led to identification of disease-causing genetic mutations and their biophysical manifestation. The process by which the knowledge base is developed, from genetic mutation, to cardiac myocyte, to whole heart, and finally to clinical presentation, has dramatically expanded our understanding of these diseases. Most importantly, we can now begin to comprehend how small changes at the genetic level can dramatically influence a patient's clinical course.
AB - The inherited channelopathies are a rare, heterogeneous group of diseases with widely variable clinical presentations and courses. Systematic clinical and experimental work has led to identification of disease-causing genetic mutations and their biophysical manifestation. The process by which the knowledge base is developed, from genetic mutation, to cardiac myocyte, to whole heart, and finally to clinical presentation, has dramatically expanded our understanding of these diseases. Most importantly, we can now begin to comprehend how small changes at the genetic level can dramatically influence a patient's clinical course.
KW - Cardiac channelopathy
KW - Pediatrics
KW - Sudden cardiac death
UR - http://www.scopus.com/inward/record.url?scp=84870299489&partnerID=8YFLogxK
U2 - 10.1007/s11936-012-0198-1
DO - 10.1007/s11936-012-0198-1
M3 - Article
C2 - 22865245
AN - SCOPUS:84870299489
SN - 1092-8464
VL - 14
SP - 473
EP - 489
JO - Current Treatment Options in Cardiovascular Medicine
JF - Current Treatment Options in Cardiovascular Medicine
IS - 5
ER -