The proposed research is a multidisciplinary, multicenter study to investigate the clinical, genetic and cardiologic aspects of the long QT syndrome (LQTS) - a predominantly hereditary disorder with episodic malignant ventricular arrhythmias and sudden death. The five-year research plan consists of: 1) a prospective population study to enroll and longitudinally follow 500 patients with LQTS and 1500 unaffected relatives in order to develop and validate widely applicable clinical criteria for stratifying the risk of life-threatening arrhythmic events in patients with this disorder; 2) a survey of a population of genetically deaf students (n=85) to identify additional families with the unique association of LQTS and congenital deafness in order to expand the data base for genetic studies in the recessive form of this disorder (Jervell and Lange-Nielsen Syndrome); 3) recording high quality pedigrees of selected LQTS families to better understand the inheritance of the dominant form of this disorder (Romano-Ward Syndrome); 4) genetic studies utilizing human leukocyte antigen (HLA) and other protein markers to investigate the gene locus for the autosomal dominant form of LQTS; and 5) non-invasive cardiologic studies (24-hour Holter recordings, treadmill exercise, valsalva maneuver and handgrip stress) in a select group of LQTS patients (n=30) and equal numbers of unaffected relatives and matched controls to determine if LQTS patients have a unique cardiovascular response or sensitivity to autonomic perturbations. These integrated populations, genetic and cardiac studies which we propose offer a substantal prospect of providing new insight into the nature of this hereditable arrhythmic disorder, of identifying individuals genetically and clinically at-risk for lethal arrhythmic events, of evaluating the efficacy of various treatment regimens and of understanding a fundamental mechanism in the genesis of one type of malignant ventricular arrhythmias that may have important implications for other cardiac disorders.
| 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 |
| 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 |
Showing the most recent 10 out of 112 publications
