2024
Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia
Pham C, Koopmann T, Vinocur J, Blom N, Silbiger V, Mittal K, Bootsma M, Palm K, Clur S, Barge‐Schaapveld D, Hamilton R, Lodder E. Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia. Clinical Genetics 2024, 106: 37-46. PMID: 38424693, DOI: 10.1111/cge.14504.Peer-Reviewed Original ResearchCongenital junctional ectopic tachycardiaJunctional ectopic tachycardiaK variantEctopic tachycardiaDilated cardiomyopathySupraventricular tachycardiaReduction of kinase activityAssociated with dilated cardiomyopathyFour-generation familyAtrioventricular (AV) nodeInteracting kinasesMissense variantsKinase functionTroponin I-interacting kinaseKinase activityTNNI3KGenetic penetranceTNNI3Variant carriersMultigenerational familiesGenetic testingTroponin ICardiac arrhythmiasTachycardiaVariants
2022
Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review
Lawley C, Tester M, Sanatani S, Prendiville T, Beach C, Vinocur J, Horie M, Uhm J, Khongphatthanayothin A, Ayers M, Starling L, Yoshida Y, Shah M, Skinner J, Turner C. Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review. Heart Rhythm 2022, 19: 1826-1833. PMID: 37850595, DOI: 10.1016/j.hrthm.2022.08.003.Peer-Reviewed Original ResearchConceptsInternational case seriesLife-threatening cardiac arrhythmiasCardiac arrhythmiasCase seriesSystematic reviewCatecholaminergic polymorphic ventricular tachycardiaPolymorphic ventricular tachycardiaLong QT syndromeLethal cardiac arrhythmiasCardiac eventsCoronary ischemiaCardiac surgeryVentricular arrhythmiasCardiac arrestSusceptible childrenVentricular tachycardiaVentricular fibrillationSudden deathCardiac conditionsArrhythmic triggersCardiac diagnosisPatientsQT syndromeSusceptible individualsArrhythmias