TY - JOUR
T1 - Mechanisms of Genetic Arrhythmias
T2 - From DNA to ECG
AU - Glaaser, Ian W.
AU - Kass, Robert S.
AU - Clancy, Colleen E
PY - 2003/11
Y1 - 2003/11
N2 - A precise balance of ionic currents underlies normal cardiac excitation and relaxation. Disruption of this equilibrium by genetic defects, polymorphisms, therapeutic intervention, and structural abnormalities can cause arrhythmogenic phenotypes leading to syncope, seizures, and sudden cardiac death. Congenital defects result in an unpredictable expression of phenotypes with variable penetrance, even within single families. Additionally, phenotypically opposite and overlapping cardiac arrhythmogenic syndromes can even stem from the same mutation. Accordingly, the relationship between genetic mutations and clinical syndromes is becoming increasingly complex.
AB - A precise balance of ionic currents underlies normal cardiac excitation and relaxation. Disruption of this equilibrium by genetic defects, polymorphisms, therapeutic intervention, and structural abnormalities can cause arrhythmogenic phenotypes leading to syncope, seizures, and sudden cardiac death. Congenital defects result in an unpredictable expression of phenotypes with variable penetrance, even within single families. Additionally, phenotypically opposite and overlapping cardiac arrhythmogenic syndromes can even stem from the same mutation. Accordingly, the relationship between genetic mutations and clinical syndromes is becoming increasingly complex.
UR - http://www.scopus.com/inward/record.url?scp=0346249876&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0346249876&partnerID=8YFLogxK
U2 - 10.1016/S0033-0620(03)00073-2
DO - 10.1016/S0033-0620(03)00073-2
M3 - Article
C2 - 14685943
AN - SCOPUS:0346249876
VL - 46
SP - 259
EP - 270
JO - Progress in Cardiovascular Diseases
JF - Progress in Cardiovascular Diseases
SN - 0033-0620
IS - 3
ER -