This amended application proposes to continue a multi-center collaborative investigation of the genetic aspects of Long QT syndrome (LQTS). The application capitalizes on an International LQTS Registry maintained by this research group that contains more than 700 proband- identified families. The application has four Specific Aims: 1) to map new genetic loci for LQTS and to clone and characterize the LQTS-causing genes; 2) to identify new intragenic, mutations involving the four known ion channels accounting for 50 percent of LQTS; 3) screen probands and family members for known LQT gene mutations to expand the number of identified carriers and; 4) to explore for modifier-gene loci in families already identified with a mutant LQT gene. Functionally, there are three components of the grant: 1) a genotype section with two molecular genetic research labs; 2) a statistical genetics section that will coordinate analyses related to modifier-gene influences on clinical severity in individuals with LQT mutations and; 3) a coordination and data center to provide data management and coordination between the other components of this program.

National Institute of Health (NIH)
National Heart, Lung, and Blood Institute (NHLBI)
Research Project (R01)
Project #
Application #
Study Section
Special Emphasis Panel (ZRG4-HPD (12))
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
University of Rochester
Internal Medicine/Medicine
Schools of Dentistry
United States
Zip Code
Kutyifa, Valentina; Daimee, Usama A; McNitt, Scott et al. (2018) Clinical aspects of the three major genetic forms of long QT syndrome (LQT1, LQT2, LQT3). Ann Noninvasive Electrocardiol 23:e12537
Auerbach, David S; Biton, Yitschak; Polonsky, Bronislava et al. (2018) Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. Transl Res 191:81-92.e7
Wang, Meng; Szepietowska, Barbara; Polonsky, Bronislava et al. (2018) Risk of Cardiac Events Associated With Antidepressant Therapy in Patients With Long QT Syndrome. Am J Cardiol 121:182-187
Wilde, Arthur A M; Moss, Arthur J; Kaufman, Elizabeth S et al. (2016) Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study. Circulation 134:872-82
Olde Nordkamp, Louise R A; Ruwald, Martin H; Goldenberg, Ilan et al. (2014) Syncope in genotype-negative long QT syndrome family members. Am J Cardiol 114:1223-8
Abu-Zeitone, Abeer; Peterson, Derick R; Polonsky, Bronislava et al. (2014) Oral contraceptive use and the risk of cardiac events in patients with long QT syndrome. Heart Rhythm 11:1170-5
Moss, Arthur J (2014) New insights into the arrhythmogenic substrate of the long QT syndrome. Circulation 130:1929-30
Abu-Zeitone, Abeer; Peterson, Derick R; Polonsky, Bronislava et al. (2014) Efficacy of different beta-blockers in the treatment of long QT syndrome. J Am Coll Cardiol 64:1352-8
Mullally, Jamie; Goldenberg, Ilan; Moss, Arthur J et al. (2013) Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm 10:378-82
Nawathe, Pooja A; Kryukova, Yelena; Oren, Ronit V et al. (2013) An LQTS6 MiRP1 mutation suppresses pacemaker current and is associated with sinus bradycardia. J Cardiovasc Electrophysiol 24:1021-7

Showing the most recent 10 out of 78 publications