European Journal of Obstetrics & Gynecology and Reproductive Biology
Full length articleObstetric and cardiac outcomes in women with Marfan syndrome and an aortic root diameter ≤ 45mm☆
Introduction
The prevalence of Marfan syndrome is about 5 cases per 10 000 persons [1]. National register-based studies have estimated a prevalence of 1.67 cases per 10,000 pregnant women in Sweden and 4.8 per 10,000 in the US [2,3]. It is caused by mutations in the FBN1 gene on chromosome 15. Clinical diagnosis of Marfan syndrome is now based on the 2010 revised Ghent criteria [[4], [5], [6], [7]]. The risk of dissection associated with pregnancy is traditionally considered to be <1% for women for an aortic root diameter <40 mm, and up to 10% for women with dilatation ≥40 mm [1,8], although new evidence seems to show that the risk might be high in either case [9]. American guidelines advise against pregnancy when the aortic root diameter is ≥40 mm, while Canadian and European guidelines contraindicate pregnancy when aortic root is dilated >44 mm and >45 mm respectively [4,5,10].
According to the American guidelines, caesarean section is the preferred mode of delivery in women with aortic root ≥40 mm. European guidelines recommend caesarean delivery when aortic root is >45 mm. Between 40–45 mm, vaginal delivery with expedited second stage may be considered [5,[9], [10], [11], [12], [13], [14]]. Regional anesthesia is advised to prevent blood pressure peaks, and delivery can be assisted by forceps or vacuum extraction, after the fetal head is descended without maternal pushing, to avoid Valsalva manoeuvre [10].
Few studies have reported pregnancy outcome according to prepregnancy aortic root diameter, although there is no evidence that caesarean delivery protects against aortic dissection [15].
The objective of this study was to assess obstetric and aortic outcomes according to aortic root diameter in a cohort of pregnant women with Marfan syndrome and a prior aortic root diameter ≤ 45 mm.
Section snippets
Study design
This is a retrospective cohort study including all pregnant women with Marfan Syndrome who were followed prospectively for their pregnancy at Sainte-Justine Mother and Child University Hospital, Montreal, Quebec, Canada between 1994 and 2017. Women were considered to have Marfan syndrome if they met the 1994 or 2010 Ghent criteria [6,7], depending on the time period. Only pregnancies progressing beyond the first trimester were included. Local practice followed an established protocol and has
Participants
Nine pregnancies were excluded (4 with genetic or clinical features suggestive of other hereditary aortopathy, 3 in women who were not aware of their condition during pregnancy, and 2 because of prior aortic surgery). Twenty-seven pregnancies in 20 women met the inclusion criteria, including 17 pregnancies in primipara. Fifteen women had a FBN1 mutation. The other 5 women were not tested, most of them because they declined genetic testing.
Twenty-one women entered pregnancies with an aortic root
Key results
More than three-quarters of women had a vaginal delivery in this series, which is higher than rates reported in the literature. This rate was not significantly influenced by the aortic root diameter. The rate of preterm birth was high (15%), although most were late preterm.
Two women with aortic root diameters of 32 and 38 mm had an acute type B dissection during the third trimester.
Limitations
This is the first study that reports specifically pregnancy outcomes for women with an aortic diameter of
Conclusion
We present a series of women with Marfan syndrome with a high rate of successful vaginal deliveries. Nonetheless, pregnancy conveys a risk of type B dissection that may not be predicted based on the aortic root diameter.
This may illustrate the limits of our traditional aortic root diameter-based risk assessment. Other factors such as family history of dissection and descending aorta size may play an important role [8,34,36,29,30]. This may modify our prepregnancy counselling.
Contribution to authorship
AFM contributed to the conception and design of the study, acquisition of data, analysis and interpretation of data, drafted the article, and approved the final version.
AML, AD, FPM, and FM contributed to the acquisition of data, the interpretation of data, revised the article, and approved the final version.
LL contributed to the conception and design of the study, acquisition of data, analysis and interpretation of data, drafted the article, revised the article, and approved the final version.
Details of ethics approval
This study was approved by the CHU Sainte-Justine, Research Centre Ethics Committee (Reference: #3645, Year 1992, Reapproved 09/2017).
Funding sources
None.
Conflicts of interest
None declared.
Acknowledgments
We thank Evelyne Naas, Clinical Nurse, from Montreal Heart Institute, for her help in gathering the database.
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This research work was presented at the 5th International Congress on Cardiac Problems in Pregnancy (CPP 2018), 22–25 February 2018, Bologna, Italy.