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Clinical Cardiovascular Research Center (CCRC)

URMC / Clinical Cardiovascular Research Center (CCRC) / LQTS Registry

LQTS Registry

The inherited Long QT Syndrome (LQTS) is a genetic channelopathy in which affected family members have QT prolongation in an ECG and an increased propensity to syncope, polymorphous ventricular tachycardia (torsade de pointes), and sudden arrhythmic death. More than 15 genes were identified to cause the disease but mutations in the three ion channel genes KCNQ1, KCNH2 and SCN5A underlying LQT1, LQT2, and LQT3, respectively, account for about 95% of patients.

The International LQTS Registry, established in 1979, has currently (09/01/2019) data on 1,059 US-based LQTS probands and their 7,117 family members including: 981 LQT1 carriers and 967 noncarriers, 864 LQT2 carriers and 926 noncarriers, and 286 LQT3 carriers and 481 noncarriers. We collect clinical data from birth until the last follow-up with average 11-year follow-up. This comprehensive database allows us to investigate various aspects of the disorder including diagnostic challenges, genetic etiology, clinical course of disease in different subgroups of patients, management and pharmacological therapy and therapy with implantable cardioverter-defibrillator (ICD).

First major publication on over 300 LQTS probands and their families was published by Dr. Arthur J. Moss in 1991 (Circulation). In 1995, Dr. Wojciech Zareba, published first comprehensive analysis of risk stratification in LQTS family members (JACC). Also, in 1995, Drs. Moss and Zareba, published a paper documenting that ECG changes in LQTS patients are related to the genetic type of the disease (Circulation). In 1998, Drs. Zareba and Moss provided for the first time evidence for a significant association between genetic types LQT1, LQT2, and LQT3 with cardiac events (NEJM). In 2000, Dr. Moss and Zareba focused on beta-blocker therapy in LQTS patients documenting its high efficacy (Circulation). In 2003, Dr. Zareba and Moss published first paper on a large cohort of LQTS patients with ICD (JCE). In the same year, Dr. Zareba and Moss, provided extensive evidence for age, sex, and genotype modulating course of the disease (JACC). Drs. Ilan Goldenberg and Arthur Moss developed series of analyses and papers focused on adolescents, adults and older adults documenting sex and gene- specific differences in these age subgroups (Circulation). Collaboration with Dr. Artur Wilde from the Netherlands and Dr. Wataru Shimizu from Japan and with additional groups resulted in a series of papers published between 2007 and 2016, which specifically focused on LQT1 (Moss), LQT2 (Shimizu), and LQT3 (Wilde). In 2014, Drs. Abeer and Moss published a seminal paper on type of beta-blocker to be used in specific genetic types of LQTS patients. In 2018, Dr. Valentina Kutyifa published an update on sex- and genotype-related changes in clinical course of LQTS (ANEC).  Also, in 2018, Drs. Biton and Zareba developed risk stratification score in LQTS patients receiving and ICD without prior cardiac arrest (Europace). In 2019 Drs. Pyotr Platonov and Zareba published important paper on atrial fibrillation in LQTS patients.

Ultimately, over 150 scientific papers were published by investigators from the International LQTS Registry, contributing to significant advancement of our knowledge on the disease presentation, etiology and treatment.

For further information on the LQTS Registry, please contact: