Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Elizondo G, Saini A, Gonzalez de Alba C, Gregor A, Harding C, Gillingham M, Vinocur J. Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency. Genetics In Medicine 2024, 26: 101123. PMID: 38501492, DOI: 10.1016/j.gim.2024.101123.Peer-Reviewed Original ResearchLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenaseCardiac involvementCardiac arrestMetabolic decompensationCardiac phenotypeDilated cardiomyopathyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficient patientsEpisodes of metabolic decompensationEnd-stage dilated cardiomyopathyOut-of-hospital cardiac arrestAcute cardiac decompensationIn-hospital cardiac arrestFatty acid oxidation disordersLife-threatening arrhythmiasInfantile dilated cardiomyopathySudden cardiac arrestPotential risk factorsCardiac manifestationsCardiac decompensationRestrictive cardiomyopathyRecurrent episodesRetrospective cohortRisk stratificationPeripheral neuropathyReduced 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