%0 Review
%T Nine Successful Pregnancy Outcomes in a Woman With Vascular Ehlers-Danlos Syndrome: A Case Report and Literature Review.
%A Zaman Z
%A Henry SJ
%A Birkeland LE
%A Petty EM
%J WMJ
%V 121
%N 4
%D Dec 2022
%M 36637850
暂无%X <B>BACKGROUND: </B>The vascular form of Ehlers-Danlos syndromes occurs due to alterations in the COL3A1 gene. It has been associated with major vascular and hollow organ complications, leading to increased morbidity and mortality rates with pregnancy.<BR><B>METHODS: </B>We report a woman (gravida 9, para 9) diagnosed with vascular Ehlers-Danlos syndrome in her 70s after bowel rupture. Genetic testing revealed a null mutation in COL3A1 that is predicted to result in haploinsufficiency. Preceding diagnosis, she had 9 pregnancies with minimal complications.<BR><B>CONCLUSIONS: </B>While no evidence-based guidelines for obstetric care in vascular Ehlers-Danlos syndrome have been well-established, patients often are counseled and followed as high-risk pregnancies.<BR><B>CONCLUSIONS: </B>Null mutations resulting in haploinsufficiency likely have lower pregnancy risks than reported in the literature for vascular Ehlers-Danlos syndrome overall. Thus, understanding the specific COL3A1 mutation may help optimize counseling regarding pregnancy and facilitate decision-making regarding management.