2022
Echocardiography fails to detect an extensive aortic root abscess in a patient with infective endocarditis: a case report
Zogg CK, Avesta A, Bonde PN, Mani A. Echocardiography fails to detect an extensive aortic root abscess in a patient with infective endocarditis: a case report. European Heart Journal - Case Reports 2022, 6: ytac032. PMID: 35295731, PMCID: PMC8922699, DOI: 10.1093/ehjcr/ytac032.Peer-Reviewed Original ResearchF-flurodeoxyglucose positron-emission tomographyPeriannular abscessInfective endocarditisClinical suspicionNew-onset left bundle branch blockComposite aortic root replacementFirst-degree atrioventricular blockLeft bundle branch blockAortic Root AbscessEvidence of abscessOptimal imaging approachPrompt operative interventionSubsequent FDG-PETAortic root replacementBicuspid aortic valveBundle branch blockAdditional imaging techniquesPossible abscessRoot abscessesRoot replacementOperative interventionHeart blockTransoesophageal echocardiographyAtrioventricular blockActive infection
2021
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction
Ziki M, Bhat N, Neogi A, Driscoll TP, Ugwu N, Liu Y, Smith E, Abboud JM, Chouairi S, Schwartz MA, Akar JG, Mani A. Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction. Human Mutation 2021, 42: 1279-1293. PMID: 34289528, PMCID: PMC8434967, DOI: 10.1002/humu.24265.Peer-Reviewed Original ResearchConceptsEarly-onset atrial fibrillationAtrial fibrillationHeart blockFamilial atrial fibrillationSlow conductionDES mutationsSlow atrial fibrillationWhole-exome sequencingConduction diseaseIsoproterenol stimulationExome sequencingGenetic causePathogenic mutationsPDE4DIPReduced colocalizationHigh penetranceGenetic screeningUnrelated kindredsFibrillationPKA phosphorylationDesmin geneEpistatic interactionsT substitutionKindredsPDE4D
2020
The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block
Ziki M, Akar J, Neogi A, Abboud J, Choueiri S, Driscoll T, Bhat N, Ugwu N, Liu Y, Smith E, Mani A. The pleiotropic effect of a deleterious DES mutation in familial atrial fibrillation and the role of PDE4DIP as a genetic modifier for heart block. European Heart Journal 2020, 41: ehaa946.0330. DOI: 10.1093/ehjci/ehaa946.0330.Peer-Reviewed Original ResearchEarly-onset atrial fibrillationNon-ischemic cardiomyopathyOnset atrial fibrillationAtrial fibrillationHeart blockFamilial atrial fibrillationWhole-exome sequencingIschemic strokeConduction diseaseDES mutationsCardiac conduction diseaseCommon cardiac arrhythmiaAutosomal dominant patternFamily membersModifier genesPacemaker implantationPleiotropic effectsMutation carriersUnaffected family membersCodon 13Beta-adrenergic receptor phosphorylationCardiac arrhythmiasCardiac conductionCardiomyopathyDES gene