Mutation-Specific Risk in Two Genetic Forms of Type 3 Long QT Syndrome

Judy F. Liu, Arthur J. Moss, Christian Jons, Jesaia Benhorin, Peter J. Schwartz, Carla Spazzolini, Lia Crotti, Michael J. Ackerman, Scott McNitt, Jennifer L. Robinson, Ming Qi, Ilan Goldenberg, Wojciech Zareba

Research output: Contribution to journalArticlepeer-review


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 factors to the first occurrence of cardiac events from birth through 40 years of age. The Andersen-Gill proportional intensity regression model was used to analyze the factors associated with recurrent syncope. Patients with a ΔKPQ mutation had a significantly greater probability of a first cardiac event from birth through 40 years of age (34%) than those with the D1790G mutation (20%; p

Original languageEnglish
Pages (from-to)210-213
Number of pages4
JournalThe American Journal of Cardiology
Issue number2
Publication statusPublished - Jan 15 2010

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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