Cost-effectiveness of genotyping in inherited arrhythmia syndromes: are we getting value for the money?

摘要

Over the last decade, the identification of the diverse genetic basis of most important inherited arrhythmia syndromes has remarkably changed our attitude toward these life-threatening diseases. Just over 10 years ago, long-QT syndrome (LQTS) was considered one disease entity, Bra-gada syndrome (BrS) had just been described, and short-QT syndrome was not yet recognized. In addition to improved understanding of the pathophysiological basis of these disorders, these advances have added genetic testing to our diagnostic armentarium, providing new opportunities for patient management. Early (presymptomatic) identification and treatment of patients at risk of developing fatal arrhythmias is now a reality. More importantly, in particular in LQTS, gene-specific aspects of disease management have evolved, making gene testing highly desirable.