Case Report (n=2)
Novel pathogenic FBN1 mutations were identified in two pregnant patients with acute Stanford type A aortic dissection, highlighting the importance of genetic screening and prompt surgical intervention in this high-risk population.
May inform genetic evaluation in pregnancy-related aortic dissection; extends FBN1 associations but remains hypothesis-generating.
In acute aortic dissection (AD) in pregnancy, increased cardiovascular stress due to pregnancy is an important factor leading to an emergent aortic event. It is rare but often results in a devastating event for both the pregnant patient and the foetus. Two cases of acute AD (Stanford type A) in pregnant females are presented in the present study. The patients were diagnosed via echocardiography, and the diagnosis was confirmed with computed tomography angiography prior to aortic surgery. Up to 50% of ADs in pregnancy occur in patients with fibrillin-1 (FBN1) gene mutations. The FBN1 gene was sequenced in both patients, and notable, novel pathogenic mutations of FBN1 were identified in both patients. A literature review was also performed on available diagnostic imaging and other measurements regarding AD during pregnancy. The authors suggest that the relevant content may have important clinical implications in raising disease awareness, arranging test rationally and choosing an intervention method.
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Lei et al. (2018) conducted a case report in Acute Stanford type A aortic dissection in pregnancy (n=2). Aortic repair and caesarean section was evaluated on Maternal and fetal survival.
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