Mutation-Specific Risk in Two Genetic Forms of Type 3 Long QT Syndrome
January 1st, 2010 Posted by: admin
Publication year: 2010
Source: The American Journal of Cardiology, Volume 105, Issue 2, 15 January 2010, Pages 210-213
Judy F., Liu , Arthur J., Moss , Christian, Jons , Jesaia, Benhorin , Peter J., Schwartz , …
The clinical course of patients with 2 relatively common long QT syndrome type 3 mutations has not been well described. In the present study, we investigated the mutational-specific risk in patients with deletional (ΔKPQ) and missense (D1790G) mutations involving the SCN5A gene. The study population involved 50 patients with the ΔKPQ mutation and 35 patients with the D1790G mutation. The cumulative probability of a first cardiac event (syncope, aborted cardiac arrest, or long QT syndrome-related sudden death) was evaluated using the Kaplan-Meier method. The Cox proportional hazards survivorship model was used to determine the independent contribution of clinical and genetic…
