Monozygotic twins with Marfan's syndrome and ascending aortic aneurysm

Aortopathies, or disease affecting the aorta, are associated with a significant mortality risk for the mother and foetus during pregnancy because of an increased rate of aortic dissection. The hereditary aortopathies; Marfan’s syndrome, bicuspid aortic valve, Loeys–Dietz syndrome, Ehlers–Danlos (type IV) syndrome, Turner’s syndrome and nonsyndromic familial thoracic aortic aneurysm and dissection are all associated with an increased risk of aortic dissection particularly during the third trimester and early postpartum period. Maternal outcome in pregnancy depends on the underlying disorder and the aortic dimensions prior to pregnancy. The foetus has up to 50% chance of inheriting the underlying genetic defect. Vasculitis, particularly Takayasu’s arteritis may also be a problem in pregnancy and predispose to aortic dissection. Prepregnancy review, including careful assessment of the aorta and prophylactic aortic surgery for an aortic aneurysm may reduce the risk of aortic dissection in pregnancy for some of the aortopathies but for women with Marfan’s syndrome, Loeys–Dietz syndrome and Ehlers–Danlos (vascular type IV) who have had surgery, the risk of death remains high. A subgroup of women with Marfan’s syndrome or a bicuspid aortic valve and normal aortic dimensions prepregnancy should do well in a pregnancy. Multidisciplinary pregnancy care with agreement on pregnancy follow-up, delivery and postpartum care with a crisis plan for an aortic dissection can improve pregnancy outcome and ensure prompt management of an aortic dissection should it occur.

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Isolated descending thoracic aortic aneurysm in Marfan's syndrome

The American Journal of Cardiology ◽

10.1016/0002-9149(88)90161-0 ◽

1988 ◽

Vol 61 (13) ◽

pp. 1159-1160 ◽

Cited By ~ 12

Author(s):

Mary Susan Pruzinsky ◽

Nevin M. Katz ◽

Curtis E. Green ◽

Lowell F. Satler

Keyword(s):

Aortic Aneurysm ◽

Thoracic Aortic Aneurysm ◽

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Descending Thoracic Aortic Aneurysm

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Oxidative Stress-Related Susceptibility to Aneurysm in Marfan’s Syndrome

Biomedicines ◽

10.3390/biomedicines9091171 ◽

2021 ◽

Vol 9 (9) ◽

pp. 1171

Author(s):

Jacek Rysz ◽

Anna Gluba-Brzózka ◽

Robert Rokicki ◽

Beata Franczyk

Keyword(s):

Oxidative Stress ◽

Nitric Oxide ◽

Aortic Aneurysm ◽

Reactive Oxygen ◽

Left Ventricular ◽

Cell Phenotype ◽

Aortic Dilatation ◽

Marfan’S Syndrome ◽

Marfan's Syndrome ◽

Aneurysm Formation

The involvement of highly reactive oxygen-derived free radicals (ROS) in the genesis and progression of various cardiovascular diseases, including arrhythmias, aortic dilatation, aortic dissection, left ventricular hypertrophy, coronary arterial disease and congestive heart failure, is well-established. It has also been suggested that ROS may play a role in aortic aneurysm formation in patients with Marfan’s syndrome (MFS). This syndrome is a multisystem disorder with manifestations including cardiovascular, skeletal, pulmonary and ocular systems, however, aortic aneurysm and dissection are still the most life-threatening manifestations of MFS. In this review, we will concentrate on the impact of oxidative stress on aneurysm formation in patients with MFS as well as on possible beneficial effects of some agents with antioxidant properties. Mechanisms responsible for oxidative stress in the MFS model involve a decreased expression of superoxide dismutase (SOD) as well as enhanced expression of NAD(P)H oxidase, inducible nitric oxide synthase (iNOS) and xanthine oxidase. The results of studies have indicated that reactive oxygen species may be involved in smooth muscle cell phenotype switching and apoptosis as well as matrix metalloproteinase activation, resulting in extracellular matrix (ECM) remodeling. The progression of the thoracic aortic aneurysm was suggested to be associated with markedly impaired aortic contractile function and decreased nitric oxide-mediated endothelial-dependent relaxation.

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