The proposed research is a multidisciplinary, multicenter, collaborative study to continue the investigation of the clinical, cardiac and genetic aspects of the LQTS, a heritable channelopathy with delayed repolarization, episodic malignant arrhythmias with syncope and sudden death. Three recently-identified ionic channel gene mutations have been shown to be responsible for the disordered ventricular repolarization in three forms of LQTS. The five year research plan consists of: 1) expansion of pedigrees involving 701 LQTS families and 4,277 family members already enrolled in an international registry; 2) identification of new LQTS gene mutations and expansion of the number of gene-identified affected and unaffected members in LQTS families with known gene mutations, using molecular genetic techniques; and 3) investigation of phenotype-genotype relationships in 200 genotyped families involving 1200 affected and unaffected family members regarding the clinical course of LQTS, T-wave repolarization phenomena, triggering factors for cardiac events, and co-morbidity associations, all by genotype. Functionally, the project will have five components: 1) a clinical component with four centers; 2) a genotype component involving two molecular genetic laboratories; 3) a statistical genetic component to investigate modifier genes; 4) a biostatistical component that will provide expertise in study design and statistical data analysis; and 5) a central coordination and data center. This integrated research program is intended to: 1) improve the presymptomatic diagnosis and treatment of LQTS; and 2) provide a fundamental understanding of the molecular basis of repolarization-related cardiac arrhythmias.
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| 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 |
| Zhang, Claire; Kutyifa, Valentina; Moss, Arthur J et al. (2015) Long-QT Syndrome and Therapy for Attention Deficit/Hyperactivity Disorder. J Cardiovasc Electrophysiol 26:1039-44 |
| Zhang, Claire; Kutyifa, Valentina; McNitt, Scott et al. (2015) Identification of Low-Risk Adult Congenital LQTS Patients. J Cardiovasc Electrophysiol 26:853-858 |
| 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 |
| 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 |
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