Type A aortic dissection in pregnant patients with fibrillin‑1 gene mutations: Two case reports and a literature review

Abstract

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.

Aortic dissection during pregnancy and postpartum

“…The systematic literature search yielded 465 potentially eligible studies. After exclusion, cross‐referencing, and reaching an agreement on three authors, 80 studies were included in this systematic literature review 5–84 (Figure 1). This resulted in a total study of 103 patients with aortic dissection during 6 months before delivery to 12 weeks postpartum.…”

A patient with Marfan’s syndrome who developed an acute aortic dissection at 28 weeks of pregnancy treated with aortic root replacement

“…The incidence of aortic dissection in women younger than 40 years of age is 0.4 in 100,000, and approximately half of these cases are said to be related to pregnancy [ 4 ]. The mortality rate is high, with 21.4% of patients dying before being seen at a hospital, and mortality rates of 60.7% and 75% on the first and second days after onset, respectively [ 5 ]. Between 2010 and 2017, 33 maternal deaths (376 cases) in Japan were attributed to cardiovascular system disorders, with acute aortic dissection accounting for approximately half of the deaths (15 cases) [ 6 ].…”