Long‐term risk of arch complications in Loeys Dietz syndrome patients undergoing proximal ascending aortic replacement
Weininger G, Zafar M, Ziganshin BA, Mori M, Papanikolaou D, Sekar RB, Amabile A, Degife E, O'Marr J, Geirsson A, Elefteriades JA, Assi R, Vallabhajosyula P. Long‐term risk of arch complications in Loeys Dietz syndrome patients undergoing proximal ascending aortic replacement. Journal Of Cardiac Surgery 2022, 37: 3688-3692. PMID: 35989525, DOI: 10.1111/jocs.16855.Peer-Reviewed Original ResearchConceptsLoeys-Dietz syndromeProximal aortic replacementAortic replacementLDS patientsLong-term riskLoeys-Dietz syndrome patientsPathogenic variantsUnknown significanceLower long-term riskRare connective tissue disorderAscending Aortic ReplacementTotal arch replacementAortic valve replacementRecords of patientsConnective tissue disordersWhole-exome genetic testingArch replacementMedian followLatest followValve replacementOperative coursePatient chartsAortic diameterAortic dimensionsAortic archPhenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm
Prendergast A, Ziganshin BA, Papanikolaou D, Zafar MA, Nicoli S, Mukherjee S, Elefteriades JA. Phenotyping Zebrafish Mutant Models to Assess Candidate Genes Associated with Aortic Aneurysm. Genes 2022, 13: 123. PMID: 35052463, PMCID: PMC8775119, DOI: 10.3390/genes13010123.Peer-Reviewed Original ResearchConceptsAortic aneurysmSkeletal abnormalitiesThoracic aortic aneurysmWhole-exome sequencingDirect microscopic assessmentSilico genetic analysisVisualized abnormalitiesTAA patientsClinical managementGeneral populationClinical practiceRoutine assessmentClinical testingCell countEvidence-based decisionsUnknown significanceUncertain significanceExperimental modelPilot studyExome sequencingAbnormalitiesMicroscopic assessmentPatientsPositive controlAneurysms