Search results for "Conduction disease"

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Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys)

2018

IF 4.743 (2017); International audience; BackgroundRare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.ObjectiveThe purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.MethodsWe conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death. We also asse…

Cardiomyopathy DilatedMaleKinaseAdolescentConduction diseaseBlotting WesternDNA Mutational AnalysisCardiomyopathyDilated cardiomyopathyMagnetic Resonance Imaging Cine030204 cardiovascular system & hematologyProtein Serine-Threonine KinasesSudden death03 medical and health sciencesYoung Adult0302 clinical medicine[SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular systemHeart Conduction SystemPhysiology (medical)Cardiac conductionmedicineTachycardia SupraventricularGeneticsHumans030212 general & internal medicineGenetic TestingKinase activityCells CulturedGeneticsbusiness.industryRare variantTNNI3KDilated cardiomyopathyDNAmedicine.diseasePedigreeProtein autophosphorylationSupraventricular tachycardiaJunctional tachycardiaMutationFemaleSupraventricular tachycardiaCardiology and Cardiovascular Medicinebusiness
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