Recent advances in the understanding and management of long QT syndrome

The sudden death of a previously healthy young individual is a dreadful occurrence. Identifying those at risk of such a dire outcome, and appropriately managing and counseling them, has been an ongoing challenge, but rapid advances are being made. This review will focus on the long QT syndrome (LQTS), the most common of the potentially lethal inheritable arrhythmias, with specific focus on the genetics relevant to clinical presentation, therapy and response.

The past 2 decades have seen tremendous progress in the field of inheritable arrhythmias. Emphasis is given to risk stratification, screening of family members, and the counseling of young athletes, as well as new developments in screening and treatment.

For the primary care provider, long QT syndrome should be considered during the evaluation of syncope, near-syncope and seizures, especially in the setting of exercise or with a family history of sudden unexplained death in a first-degree relative. The corrected QT interval (QTc) should be assessed as a routine when obtaining electrocardiograms. If there are concerns on the basis of electrocardiogram findings, medical history or family history, referral to a cardiologist is indicated. Providers need to be cognizant of the challenges of therapy and lifestyle changes for patients and families with long QT syndrome.