2024
Somatic Variants Acquired Later in Life Associated with Thoracic Aortic Aneurysms: JAK2 V617F
Waldron C, Zafar M, Ma D, Zhang H, Dykas D, Ziganshin B, Popa A, Jha A, Kwan J, Elefteriades J. Somatic Variants Acquired Later in Life Associated with Thoracic Aortic Aneurysms: JAK2 V617F. Genes 2024, 15: 883. PMID: 39062663, PMCID: PMC11276600, DOI: 10.3390/genes15070883.Peer-Reviewed Original ResearchThoracic aortic aneurysmDevelopment of thoracic aortic aneurysmAortic aneurysmJAK2 V617FMyeloproliferative neoplasmsSomatic variantsPrevalence of thoracic aortic aneurysmsDescending thoracic aortic aneurysmJAK2 V617F burdenAortic valve diseaseTarget of therapyDriver of myeloproliferative neoplasmsSurgical aortic replacementVariant allele fractionAscending thoracic aortic aneurysmAortic replacementAneurysm sizeAneurysm patientsValve diseaseVariant carriersIncreased riskJAK2 geneExome sequencing databaseAllele fractionAneurysm
2023
Evidence Accumulates: Patients with Ascending Aneurysms Are Strongly Protected from Atherosclerotic Disease
Waldron C, Zafar M, Ziganshin B, Weininger G, Grewal N, Elefteriades J. Evidence Accumulates: Patients with Ascending Aneurysms Are Strongly Protected from Atherosclerotic Disease. International Journal Of Molecular Sciences 2023, 24: 15640. PMID: 37958625, PMCID: PMC10650782, DOI: 10.3390/ijms242115640.Peer-Reviewed Original ResearchConceptsThoracic aortic aneurysmAortic aneurysmCarotid intima-media thicknessLow-density lipoprotein levelsIntima-media thicknessDevelopment of atherosclerosisMatrix metalloproteinase proteinsAscending aneurysmAortic calcificationAtherosclerotic diseaseLipoprotein levelsMyocardial infarctionLeading causeAneurysmsMetalloproteinase proteinsGrowth factorProtective relationshipDiseasePossible mechanismCurrent understandingMorbidityInfarctionAtherosclerosisPatientsPathophysiology