P1696Prognostic implication of genotype and gender in long QT syndrome

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Background: Few data is available about relation between genotype, gender and long-term prognosis in long QT syndrome (LQTS). Purpose: To evaluate the prognostic implications of genotype and gender in LQTS1 and LQTS2, responsible for approximately 65% of the LQT cases. Methods: Through a systematic literature research we collected in a dedicated database clinical and genetic data about all the carriers and affected relatives of pathogenic or likely pathogenic mutations in KCNQ1 and KCNH2 genes. Carriers of double mutations were excluded. We constructed Kaplan-Meier survival curves including all the individuals who had both follow up data and information about their relatives. Long-rank test was used to compare survival between males, females and genotypes. Results: 1133 individuals with 254 sudden death (SD) events (22.4%) were included in the analyses. Six hundred twenty seven (627) had KCNQ1 mutations (290 males; 337 females; 107 SD). 506 had KCNH2 mutations (239 males; 267 females, 147 SD). Survival was better for KCNQ1 than KCNH2 carriers (p=0.0001). For KCNQ1, males showed a significantly lower survival than females (p=0.02). This difference started during the third decade of life. From age 20 to 60, the sudden death incidence in males was 0.85%/year, while it was 0.38%/year in females. There was no significant difference between men and women for KCNH2 mutations, with a sudden death incidence of 0.94%/year for both genders.

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