Search Results - "Tobert, Kathryn E"
-
1
Association Between Syncope Trigger Type and Risk of Subsequent Life-Threatening Events in Patients With Long QT Syndrome
Published in JAMA cardiology (01-08-2023)“…Syncope is the most powerful predictor for subsequent life-threatening events (LTEs) in patients with congenital long QT syndrome (LQTS). Whether distinct…”
Get more information
Journal Article -
2
Return-to-Play for Athletes With Long QT Syndrome or Genetic Heart Diseases Predisposing to Sudden Death
Published in Journal of the American College of Cardiology (10-08-2021)“…Within the last 5 years, cardiac society guidelines have begun to acknowledge shared decision making (SDM) for the athlete with sudden cardiac…”
Get full text
Journal Article -
3
Outcomes of Athletes With Genetic Heart Diseases and Implantable Cardioverter-Defibrillators Who Chose to Return to Play
Published in Mayo Clinic proceedings (01-11-2022)“…To evaluate outcomes for athletes with a genetic heart disease (GHD) and an implantable cardioverter-defibrillator (ICD) after return-to-play (RTP) approval…”
Get full text
Journal Article -
4
Return-to-Play for Elite Athletes With Genetic Heart Diseases Predisposing to Sudden Cardiac Death
Published in Journal of the American College of Cardiology (22-08-2023)“…People diagnosed with genetic heart diseases (GHDs) associated with sudden cardiac death (SCD) have historically been restricted from competitive sports…”
Get full text
Journal Article -
5
Bilateral cardiac sympathetic denervation in patients with congenital long QT syndrome
Published in Heart rhythm (01-07-2023)“…Long QT syndrome (LQTS) is a potentially lethal yet treatable genetic heart disease for which left cardiac sympathetic denervation (LCSD) is a class I…”
Get full text
Journal Article -
6
Return to work for patients in high-risk professions diagnosed with a sudden cardiac death–predisposing genetic heart disease
Published in Heart rhythm (10-07-2024)Get full text
Journal Article -
7
Single Construct Suppression and Replacement Gene Therapy for the Treatment of All CALM1 -, CALM2 -, and CALM3 -Mediated Arrhythmia Disorders
Published in Circulation. Arrhythmia and electrophysiology (01-08-2024)“…CaM (calmodulin)-mediated long-QT syndrome is a genetic arrhythmia disorder (calmodulinopathies) characterized by a high prevalence of life-threatening…”
Get full text
Journal Article -
8
Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant
Published in Heart rhythm (01-06-2022)“…Most of the long QT syndrome (LQTS) stems from pathogenic variants in KCNQ1, KCNH2, or SCN5A. However, ∼10%–20% of LQTS index cases remain genotype-negative…”
Get full text
Journal Article -
9
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Published in European heart journal (14-09-2023)“…Abstract Aims Calmodulinopathy due to mutations in any of the three CALM genes (CALM1–3) causes life-threatening arrhythmia syndromes, especially in young…”
Get full text
Journal Article -
10
Diagnostic accuracy of the 12-lead electrocardiogram in the first 48 hours of life for newborns of a parent with congenital long QT syndrome
Published in Heart rhythm (01-06-2022)“…Long QT syndrome (LQTS) is an autosomal dominant disorder characterized by a prolonged QT interval. Electrocardiographic (ECG) screening in the first 48 hours…”
Get full text
Journal Article -
11
Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia
Published in Europace (London, England) (16-02-2023)“…In catecholaminergic polymorphic ventricular tachycardia (CPVT), the exercise-stress test (EST) is the cornerstone for the diagnosis, risk stratification, and…”
Get full text
Journal Article -
12
Abstract 14277: Diagnostic Accuracy of the 12-lead Electrocardiogram in the First 48 Hours of Life in Neonates From a Parent With Genotype Positive Long QT Syndrome
Published in Circulation (New York, N.Y.) (16-11-2021)“…IntroductionLong QT syndrome (LQTS) is an autosomal dominant disorder characterized by a prolonged QT interval on a 12-lead electrocardiogram (ECG). Cascade…”
Get full text
Journal Article -
13
B-AB11-01 OUTCOMES OF ATHLETES WITH GENETIC HEART DISEASES AND IMPLANTABLE CARDIOVERTER DEFIBRILLATORS WHO CHOSE TO RETURN-TO-PLAY
Published in Heart rhythm (01-08-2021)Get full text
Journal Article -
14
BS-452757-2 A SINGLE SUPPRESSION AND REPLACEMENT GENE THERAPY FOR ALL THREE CARDIAC CALMODULINOPATHIES
Published in Heart rhythm (01-05-2023)Get full text
Journal Article -
15
Abstract 14385: Genome Sequencing and Re-Engineered Heart Cell-Disease Modeling Identifies a Novel Deep Intronic Variant in a Multi-Generational Long QT Syndrome Pedigree
Published in Circulation (New York, N.Y.) (16-11-2021)“…IntroductionMost of long QT syndrome (LQTS) is explained by pathogenic variants in KCNQ1, KCNH2, or SCN5A. However, ~10-20% of LQTS index cases remain…”
Get full text
Journal Article -
16
Abstract 15036: Suppression-Replacement Gene Therapy for CALM1-Mediated Long QT Syndrome
Published in Circulation (New York, N.Y.) (08-11-2022)“…IntroductionCalmodulin (CaM)-mediated long QT syndrome (CaM-LQTS) is a genetic arrhythmia disorder characterized by a high prevalence of life-threatening…”
Get full text
Journal Article -
17
Abstract 15101: Return-to-Work for Patients in High-Risk Professions Diagnosed With a Sudden Death-Predisposing Genetic Heart Disease
Published in Circulation (New York, N.Y.) (08-11-2022)“…IntroductionSudden cardiac arrest (SCA) and death (SCD) are the most serious sequelae of many genetic heart diseases (GHDs). Increased awareness of this has…”
Get full text
Journal Article -
18
B-PO05-027 GENOME SEQUENCING IN A GENETICALLY ELUSIVE MULTI-GENERATIONAL LONG QT SYNDROME PEDIGREE IDENTIFIES A NOVEL PATHOGENIC CAUSE
Published in Heart rhythm (01-08-2021)Get full text
Journal Article -
19
Return-to-Work for Patients in High-RiskProfessions Diagnosed with a Sudden Cardiac Death-Predisposing Genetic Heart Disease
Published in Heart rhythm (10-07-2024)Get full text
Journal Article -
20
B-PO05-190 ATHLETES WITH SUDDEN CARDIAC DEATH-PREDISPOSING GENETIC HEART DISEASE: WINNING THE ‘RETURN-TO-PLAY’ GAME
Published in Heart rhythm (01-08-2021)Get full text
Journal Article