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Anesthetic management and peripartum outcomes of parturients with Loeys-Dietz phenotype with and without mutations in the transforming growth factor-β signaling pathway.
Abstract Number: F-38
Abstract Type: Original Research
INTRODUCTION: Genetic mutations that alter transforming growth factor-β (TGF-β) signaling predispose individuals to cardiovascular, craniofacial and skeletal abnormalities.  These mutations are found in patients with Loeys-Dietz Syndrome (LDS), a connective tissue disease (CTD) first described in 2005.  Compared with Marfan syndrome, LDS patients have more aggressive vascular disease with dissection occurring at smaller aortic diameters and a mean age of death of 26.1.  During pregnancy, patients with LDS are at risk of progression of aortopathy and uterine rupture.  Some patients diagnosed with unspecified CTD are suspected to have LDS based on craniofacial and skeletal abnormalities but do not carry mutations in the TGF-β pathway. We sought to describe the anesthetic management and peripartum outcomes of parturients with unspecified CTD with LDS phenotype and those with genotype-confirmed LDS.
METHODS: We retrospectively reviewed the medical records of all patients diagnosed with unspecified CTD having LDS phenotype with (LDS+) and without (LDS-) mutations affecting TGF-β signaling over a 7-year period (Nov 2007 to Jan 2015).
RESULTS: Eleven pregnancies in nine parturients were analyzed. There were four LDS-, two LDS+, and three query LDS (qLDS) patients who not undergo genetic testing. Neither LDS+ patient had documented aggressive arterial disease, and three patients (1 LDS+, 2 LDS-) were on beta-blockers throughout gestation. The planned mode of delivery was vaginal for nine of eleven (82%) pregnancies. In the LDS- cases, three required vacuum or forceps assistance due to maternal fatigue and four cases ultimately required cesarean delivery (CD). A total of six CD’s (55%) were performed, four in the LDS- group and two in the qLDS group; one was performed emergently due to placental abruption, three were performed urgently due to fetal intolerance of labor; two were performed electively. In the LDS+ cases, both had successful term vaginal deliveries. All deliveries were performed with a neuraxial technique. All cases were managed with serial echocardiograms, which indicated initial aortic root diameters of ≤ 38 mm during and after pregnancy. Arterial blood pressure monitoring and telemetry were not used in any cases. No maternal or neonatal complications were observed in this cohort.
DISCUSSION: Parturients with unspecified CTD having LDS phenotype with or without mutations in the TGF-β pathway receiving care at our institution had good clinical outcomes. Despite being at high risk for anesthetic or obstetric complications, and encouraged to undergo early, elective CD , parturients with mutations in the TGF-β pathway without aggressive arterial disease can have successful term pregnancies, tolerate labor, and have vaginal and cesarean deliveries under neuraxial analgesia.
1. MacCarrick G et al, Genet Med, 2014
2. Loeys BL et al, Nat Genet, 2005