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
2018
Hereditary arrhythmias and cardiomyopathies
Louis C, Calamaro E, Vinocur JM. Hereditary arrhythmias and cardiomyopathies. Current Opinion In Cardiology 2018, 33: 78-86. PMID: 29059074, DOI: 10.1097/hco.0000000000000477.Commentaries, Editorials and LettersMeSH KeywordsArrhythmias, CardiacArrhythmogenic Right Ventricular DysplasiaBrugada SyndromeCardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, Hypertrophic, FamilialClinical Decision-MakingGenetic CounselingGenetic TestingHealth Services AccessibilityHumansLong QT SyndromePatient Care TeamPractice Guidelines as TopicTachycardia, VentricularConceptsHereditary arrhythmiasGenetic testingClass I recommendationManagement of patientsStandard of careAppropriateness of useI recommendationConsensus guidelinesCardiomyopathy diagnosisFamily screeningClinical geneticsReproductive planningClinical practiceMultidisciplinary teamOptimal managementArrhythmiasAppropriate useCardiomyopathyDiagnosisGenetic counselorsGuidelinesCase-based approachPatientsPrognosisTesting