Long QT syndrome in children in the era of implantable defibrillators

Objectives We sought to assess the spectrum and outcome of young long QT syndrome (LQTS) patients, addressing treatment including device indications, risks, and benefits. Background Long QT syndrome has a phenotype ranging from asymptomatic electrocardiogram (ECG) abnormalities to sudden death. Treatments include beta-blockers and device implantation in high-risk individuals. Despite genetic testing, accurate risk stratification remains challenging. Methods A database search at 3 institutions identified all pediatric LQTS patients. Records were reviewed for demographics, criteria for diagnosis, treatment, follow-up, and ECG and device data. Results We identified 128 patients ages 8.0 +/- 5.4 years with QTc of 487 +/- 39 ms and follow-up of 4.4 +/- 3.5 years. Most were diagnosed because of an abnormal ECG in a patient with a family history (53%). Genetic mutations were identified in 51 patients. Beta-blockers were used in 126 (98%) and pacemaker/implantable cardioverter-defibrillator implantation in 27 (21%) patients, usually because of symptoms despite use of beta-blockers. Pacing was common; 22% received an appropriate shock but device-related re-intervention occurred in 48%. Device patients had longer QTc intervals (p = 0.03) and more symptoms (p < 0.001). No one with an isolated KCNQ1 and all patients with an SCN5A mutation had device implantation. During the study period, there were 2 deaths. Conclusions Long QT syndrome without symptoms is increasingly recognized as family members are screened. Evaluation of this minimally symptomatic population offers an evolving understanding of LQTS. Previous studies of highly symptomatic patients were more worrisome. In the era of genetic testing and device implantation, overall mortality is low with treatment. Device therapy, although effective, is not without complications and should be reserved for high-risk patients.