2025
Sex-Differences in the Patterns of Cardiovascular Referral in Patients with Marfan, Ehlers-Danlos, and Loeys-Dietz Syndromes
Waldron C, Nasir A, Wang K, Chou A, Erez E, Vallabhajosyula P, Assi R. Sex-Differences in the Patterns of Cardiovascular Referral in Patients with Marfan, Ehlers-Danlos, and Loeys-Dietz Syndromes. JTCVS Open 2025 DOI: 10.1016/j.xjon.2025.01.002.Peer-Reviewed Original ResearchCardiothoracic surgeryConnective tissue diseaseFemale patientsEhlers-DanlosAortic pathologyLoeys-DietzCardiovascular medicineMale patientsTissue diseaseRetrospective review of patientsReview of patientsLoeys-Dietz syndromeDiagnosis of MFSReferral ratesSex differencesMFS patientsRetrospective reviewAortic diseaseRate of referralSurgeryPatientsMedical recordsClinical diagnosisElectronic medical recordsObjective diagnosis
2024
Clinical Effectiveness of Genetic Testing Guidelines in Patients with Thoracic Aortic Aneurysms
Erez E, Acuna Higaki A, Cupo M, Phu T, Verma S, Assi R, Vallabhajosyula P. Clinical Effectiveness of Genetic Testing Guidelines in Patients with Thoracic Aortic Aneurysms. Journal Of Thoracic And Cardiovascular Surgery 2024 PMID: 39321868, DOI: 10.1016/j.jtcvs.2024.09.026.Peer-Reviewed Original ResearchFeatures of connective tissue diseaseThoracic aortic diseaseConnective tissue diseaseThoracic aortic aneurysmGenetic testing guidelinesSyndromic featuresMutation rateFamily historyVUS rateAortic aneurysmPrimary genesGenetic testingAssociated with thoracic aortic diseaseThoracic aorta diameterTesting guidelinesAorta diameterPathogen mutation rateAortic diseaseRisk stratificationSecondary genesPathogenic mutationsTissue diseaseClinical effectsVUSGenes