Maternal and fetal outcomes in pregnancies complicated by the inherited aortopathy Loeys–Dietz syndrome

Abstract

Objective Pregnancies in women with Loeys-Dietz syndrome (LDS) are rare and are typically documented in case reports only. Early reports suggested high rates of maternal complications during pregnancy and the puerperium, including aortic dissection and uterine rupture, but information on fetal outcomes was very limited.Design A retrospective cohort study.Setting Eight specialist UK centres.Sample Pregnant women with LDS.Methods Data was collated on cardiac, obstetric, and neonatal outcomes.Main outcome measures Maternal and perinatal outcomes in pregnancies complicated by LDS.Results Twenty pregnancies in 13 women with LDS were identified. There was one miscarriage, one termination of pregnancy, and 18 livebirths. In eight women the diagnosis was known prior to pregnancy but only one woman had preconception counselling. In four women the diagnosis was made during pregnancy through positive genotyping, and the other was diagnosed following delivery. Five women had a family history of aortic dissection. There were no aortic dissections in our cohort during pregnancy or postpartum. Obstetric complications were common, including postpartum haemorrhage (33%) and preterm delivery (50%). In all, 14/18 (78%) of deliveries were by elective caesarean section, at a median gestational age at delivery of 37 weeks. Over half the infants (56%) were admitted to the neonatal unit following delivery.Conclusion Women with LDS require multidisciplinary specialist management throughout pregnancy. Women should be referred for preconception counselling to make informed decisions around pregnancy risk and outcomes. Early elective preterm delivery needs to be balanced against a high infant admission rate to the neonatal unit.Keywords Congenital heart disease, pregnancy.Tweetable abstract Pregnancy outcomes in women with Loeys-Dietz syndrome.

Proposed Management Policy for Pregnant Women with Loeys-Dietz Syndrome Following Prophylactic Aortic Root Replacement Based on Experience from a Tertiary Care Center

“…3) Cauldwell, et al reported 20 pregnancies in 13 women with LDS, in-cluding one woman with a history of ARR after her first pregnancy; however, no AD occurred in their cohort. 4) Including the report from Cauldwell, et al, in which precise history is unknown, there were only six cases of pregnancy in patients with LDS with a history of ARR, and four of these patients had AD after delivery. [4][5][6][7] These results indicate that patients with LDS with a history of ARR must be informed of risks prior to pregnancy, because they require special attention during pregnancy and after delivery.…”

“…In summary, we propose a management strategy for pregnant women with LDS following ARR, as shown in Table II. Women with LDS without a history of ARR seem to have favorable pregnancy outcomes; however, because fatal AD occurs in 1%-2% of these women, 3,4) we used the same protocol for each LDS pregnancy after thorough discussion with the patient. Considering the beneficial effect of lactation for both mother and newborn, lactation prevention in MFS-related diseases has been controversial; however, given the promising results observed by Habashi, et al in mice, the option to prevent lactation should be discussed with women with LDS regardless of…”

“…2) Because it has been only 16 years since this disease was recognized, there have been limited reports of pregnancies in women with LDS. Several recent case series have reported favorable outcomes of pregnancy in LDS 3,4) ; however, pregnancies that occurred following prophylactic aortic root replacement (ARR) had a high risk of peripartum AD. To the best of our knowledge, four out of six patients with LDS with a history of ARR, including two patients from our institution, were reported to have had AD postpartum [4][5][6][7] and required additional monitoring compared with those without ARR.…”

“…Several recent case series have reported favorable outcomes of pregnancy in LDS 3,4) ; however, pregnancies that occurred following prophylactic aortic root replacement (ARR) had a high risk of peripartum AD. To the best of our knowledge, four out of six patients with LDS with a history of ARR, including two patients from our institution, were reported to have had AD postpartum [4][5][6][7] and required additional monitoring compared with those without ARR. In contrast to the presence of pregnancy treatment recommendations for patients with Marfan syndrome (MFS), a connective tissue disorder that shares common features with LDS, no pregnancy management guidelines exist for women with LDS.…”

Maternal genetic disorders and fetal development

“…Aside from the catastrophic fetal outcomes that can result from maternal aortic dissection, fetal development does not seem to be affected. In a series of 20 pregnancies in 13 women, the rate of preterm delivery was 50%, but there were otherwise normal fetal outcomes. Suggested management guidelines in pregnancy are summarized in Table .…”