Research Topics
Species | G M VincentSummaryAffiliation: LDS Hospital Country: USA Publications
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Publications
The molecular genetics of the long QT syndrome: genes causing fainting and sudden deathG M Vincent
Department of Internal Medicine, LDS Hospital, Salt Lake City, Utah 84143, USA
Annu Rev Med 49:263-74. 1998..The manifestations vary, depending on the genotype present. The phenotype also probably varies, depending on the specific mutation involved. Phenotypic heterogeneity is also caused by variable penetrance and expressivity...- The role of genotyping in diagnosing cardiac channelopathies : progress to dateG Michael Vincent
LDS Hospital and University of Utah School of Medicine, Salt Lake City, USA
Mol Diagn 9:105-18. 2005..The recommendations will progressively change as new research findings and new genotyping technologies appear... - The Long QT and Brugada syndromes: causes of unexpected syncope and sudden cardiac death in children and young adultsG Michael Vincent
University of Utah School of Medicine, Department of Medicine, LDS Hospital, Salt Lake City, UT 84103, USA
Semin Pediatr Neurol 12:15-24. 2005..Very effective treatments are available and prompt, correct diagnosis and appropriate treatment are life-saving... - Congenital Long QT syndromeG Michael Vincent
Department of Medicine, LDS Hospital and University of Utah School of Medicine, 324 10th Avenue, Suite 130, Salt Lake City, UT 84103, USA
Card Electrophysiol Rev 6:57-60. 2002 - Commotio cordis: a deadly consequence of chest traumaG M Vincent
Department of Medicine, LDS Hospital, Salt Lake City, UT, 84143, USA
Phys Sportsmed 28:31-9. 2000..Preventive measures include education of participants and coaches, chest protection, and softer baseballs. Other considerations include having external automatic defibrillators and trained personnel at youth sporting events... - Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS RegistryE H Locati
Department of Medicine, University of Rochester, NY, USA
Circulation 97:2237-44. 1998..Our objectives were to evaluate age- and sex-related differences in events among LQTS patients referred to the LQTS International Registry... - Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2I Splawski
Department of Human Genetics, Howard Hughes Medical Institute, Division of Cardiology, Salt Lake City, Utah, USA
Circulation 102:1178-85. 2000..Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion... - Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndromeA J Moss
Department of Medicine, University of Rochester School of Medicine and Dentistry, NY 14642, USA
Circulation 101:616-23. 2000..beta-blockers are routinely prescribed in congenital long-QT syndrome (LQTS), but the effectiveness and limitations of beta-blockers in this disorder have not been evaluated... - Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndromeA J Moss
Department of Medicine, University of Rochester School of Medicine and Dentistry, New York, USA
Am J Cardiol 84:876-9. 1999..The clinical profile and genotype findings of patients with LQTS who experience cardiac events related to acute auditory stimuli are quite different from those who experience events accompanying swimming activities... - Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1I Splawski
Cardiology Division, University of Utah, Salt Lake City, Utah, 84112, USA
Genomics 51:86-97. 1998..This work has clinical implications for presymptomatic diagnosis and therapy... - Clinical implications for affected parents and siblings of probands with long-QT syndromeJ Kimbrough
Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA
Circulation 104:557-62. 2001..CONCLUSIONS: The severity profile of LQTS in a proband was not found to be useful in identifying the clinical severity of LQTS in affected first-degree relatives of the proband... 
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 geneArthur J Moss
Cardiology Division, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA
Circulation 115:2481-9. 2007..We evaluated the effect of location, coding type, and biophysical function of KCNQ1 mutations on the clinical phenotype of this disorder...- Improved long-term survival associated with stent deployment during percutaneous coronary interventions: results from a registry of 3399 patientsJoseph B Muhlestein
Division of Cardiology, Department of Cardiovascular Medicine, LDS Hospital, Salt Lake City, Utah 84143, USA
Am Heart J 150:182-7. 2005..However, few studies have had a sufficient sample size or adequate follow-up to determine whether this advantage results in a positive effect on mortality... - An intronic mutation causes long QT syndromeLi Zhang
LDS Hospital, Salt Lake City, Utah 84103, USA
J Am Coll Cardiol 44:1283-91. 2004..The purpose of this research was to determine whether an intronic variant (T1945+6C) in KCNH2 is a disease-causing mutation, and if expanded phenotyping criteria produce improved identification of long QT syndrome (LQTS) patients... - Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotypeLi Zhang
LDS Hospital, 324 10th Ave, Suite 130, Salt Lake City, Utah 84103, USA
Circulation 111:2720-6. 2005..The normal QTc, distinct ECG, and other clinical features distinguish ATS1 from long-QT syndrome, and it is best designated as ATS1 rather than LQT7... - Long QT syndrome in patients over 40 years of age: increased risk for LQTS-related cardiac events in patients with coronary diseaseEdward Sze
Cardiology Division, Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642 8653, USA
Ann Noninvasive Electrocardiol 13:327-31. 2008.... - Corrected QT variability in serial electrocardiograms in long QT syndrome: the importance of the maximum corrected QT for risk stratificationIlan Goldenberg
Cardiology Division, Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA
J Am Coll Cardiol 48:1047-52. 2006..We evaluated the incremental prognostic information provided by multiple corrected QT (QTc) measurements on serial electrocardiograms (ECGs) in patients with the inherited long QT syndrome (LQTS)... - Modulating effects of age and gender on the clinical course of long QT syndrome by genotypeWojciech Zareba
Department of Medicine, Heart Research Follow Up Program, Medical Center, University of Rochester School of Medicine, Rochester, NY 14642 8653, USA
J Am Coll Cardiol 42:103-9. 2003..We aimed to determine whether long QT syndrome (LQTS) genotype has a differential effect on clinical course of disease in male and female children and adults after adjustment for QTc duration... - The long-QT syndrome--bedside to bench to bedsideG Michael Vincent
Department of Internal Medicine, LDS Hospital and the University of Utah, Salt Lake City, USA
N Engl J Med 348:1837-8. 2003 - High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures"G Michael Vincent
Department of Medicine, LDS Hospital and University of Utah, Salt Lake City, UT, USA
Circulation 119:215-21. 2009..Beta-blocker efficacy in long-QT syndrome type 1 is good but variably reported, and the causes of cardiac events despite beta-blocker therapy have not been ascertained... - Risk of cardiac events in patients with asthma and long-QT syndrome treated with beta(2) agonistsPrincy Thottathil
Cardiology Division of the Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA
Am J Cardiol 102:871-4. 2008..14, p = 0.05). In conclusion, beta(2)-agonist therapy was associated with an increased risk for cardiac events in patients with asthma with LQTS, and this risk was diminished in patients receiving beta blockers... - Risk of death in the long QT syndrome when a sibling has diedElizabeth S Kaufman
Heart and Vascular Research Center, MetroHealth Campus, Case Western Reserve University, Cleveland, Ohio, USA
Heart Rhythm 5:831-6. 2008..Sudden death of a sibling is thought to be associated with greater risk of death in long QT syndrome (LQTS). However, there is no evidence of such an association... - Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndromeIlan Goldenberg
Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
Circulation 117:2184-91. 2008..However, specific risk factors for life-threatening cardiac events in children with this genetic disorder have not been identified... - Long-QT syndrome after age 40Ilan Goldenberg
Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
Circulation 117:2192-201. 2008.... - Nonsense mutations in hERG cause a decrease in mutant mRNA transcripts by nonsense-mediated mRNA decay in human long-QT syndromeQiuming Gong
Division of Cardiovascular Medicine, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
Circulation 116:17-24. 2007..However, the role of nonsense-mediated mRNA decay in LQT2 mutations has not been explored... - Long QT syndrome and pregnancyRahul Seth
Cardiology Division of the Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642, USA
J Am Coll Cardiol 49:1092-8. 2007..This study was designed to investigate the clinical course of women with long QT syndrome (LQTS) throughout their potential childbearing years... - Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndromeWojciech Zareba
Cardiology Unit of the Department of Medicine, Heart Research Follow Up Program, Box 653, University of Rochester Medical Center, Rochester, NY 14642, USA
J Cardiovasc Electrophysiol 14:1149-53. 2003..The aim of this study was to determine whether there is an association between the location of mutations in the KCNQ1 gene and cardiac events in LQT1 patients... - Risk assessment in long QT syndrome: the Achilles heel of appropriate treatmentG Michael Vincent
Heart Rhythm 2:505-6. 2005 - Atrial arrhythmias in the inherited long QT syndrome: laboratory quirk or clinical arrhythmia?G Michael Vincent
J Cardiovasc Electrophysiol 14:1034-5. 2003 - Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channelArthur J Moss
Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA
Circulation 105:794-9. 2002..We investigated the clinical features and prognostic implications of mutations involving pore and nonpore regions of the HERG channel in the LQT2 form of this disorder... - Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndromeJenny B Hobbs
Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, NY, USA
JAMA 296:1249-54. 2006..Among patients with recent syncope, beta-blocker treatment was associated with reduced risk... - Long QT syndrome in adultsAndrew J Sauer
Cardiology Unit of the Department of Medicine, University of Rochester Medical Center, Rochester, New York 14642 8653, USA
J Am Coll Cardiol 49:329-37. 2007.... - Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutationsXianqin Zhang
Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China
BMC Med Genet 9:87. 2008..To investigate the disease expressivity, this study aimed to identify mutations and common variants that can modify LQTS phenotype... - A splice site mutation in hERG leads to cryptic splicing in human long QT syndromeQiuming Gong
Division of Cardiovascular Medicine, Oregon Health and Science University, Portland, OR, USA
J Mol Cell Cardiol 44:502-9. 2008..Our results demonstrate that 2398+1G>C activates a cryptic site and generates a full-length hERG protein with an insertion of 18 amino acids, which leads to a trafficking defect of the mutant channel... - Inaccurate electrocardiographic interpretation of long QT: the majority of physicians cannot recognize a long QT when they see oneSami Viskin
Department of Cardiology, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Heart Rhythm 2:569-74. 2005..It is important to define the percentage of physicians capable of distinguishing QT intervals that are long from those that are normal because LQTS can be lethal when left untreated...