Thoracic aortopathy in Marfan syndrome overlaps with mechanisms seen in bicuspid aortic valve disease

Abstract

BackgroundThoracic aortopathy is a serious complication which is more often seen in patients with Marfan syndrome (MFS) and patients with a bicuspid aortic valve (BAV) than in individuals with a tricuspid aortic valve (TAV). The identification of common pathological mechanisms leading to aortic complications in non-syndromic and syndromic diseases would significantly improve the field of personalized medicine.ObjectiveThis study sought to compare thoracic aortopathy between MFS, BAV, and TAV individuals.Materials and methodsBicuspid aortic valve (BAV; n = 36), TAV (n = 23), and MFS (n = 8) patients were included. Ascending aortic wall specimen were studied for general histologic features, apoptosis, markers of cardiovascular ageing, expression of synthetic and contractile vascular smooth muscle cells (VSMC), and fibrillin-1 expression.ResultsThe MFS group showed many similarities with the dilated BAV. Both patient groups showed a thinner intima (p < 0.0005), a lower expression of contractile VSMCs (p < 0.05), more elastic fiber thinning (p < 0.001), lack of inflammation (p < 0.001), and a decreased progerin expression (p < 0.05) as compared to the TAV. Other features of cardiovascular ageing differed between the BAV and MFS. Dilated BAV patients demonstrated less medial degeneration (p < 0.0001), VSMC nuclei loss (p < 0.0001), apoptosis of the vessel wall (p < 0.03), and elastic fiber fragmentation and disorganization (p < 0.001), as compared to the MFS and dilated TAV.ConclusionThis study showed important similarities in the pathogenesis of thoracic aortic aneurysms in BAV and MFS. These common mechanisms can be further investigated to personalize treatment strategies in non-syndromic and syndromic conditions.

Practical Considerations of Remote Care in Thoracic Aortopathy in India

“…Histopathological analysis of conditions associated with thoracic aortopathy has shown structural abnormalities of the vascular wall extending over the entire length of the aorta, irrespective of the underlying cause [ 12 , 13 ]. The long-term management of thoracic aortopathy aims to prevent complications, preserve aortic function, and optimize patient health [ 14 , 15 ].…”

“…In recent years, remote care has made significant strides in India, driven by regulatory reforms, technological advancements, and changing healthcare needs [ 8 ]. While there are still challenges to address, telemedicine holds immense potential to revolutionize healthcare delivery, improve patient outcomes, and enhance healthcare access for patients with thoracic aortopathy by overcoming barriers to access, enhancing patient engagement, and optimizing resource utilization [ 1 , 3 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 ]. By harnessing the power of telecommunication technologies, India can extend the reach of healthcare services, improve health outcomes, and promote equitable access to quality healthcare for all its citizens, regardless of their location or socioeconomic status [ 3 , 20 , 22 ].…”

Smooth muscle cell phenotypic switching occurs independent of aortic dilation in bicuspid aortic valve-associated ascending aortas

“…This points to epigenetic factors playing a major role in the suppression of SMC contractile genes, and the induction of alternative phenotypes. Given the prevailing characterization of BAV aortopathy as predominantly featuring low inflammatory activity [ 37 ], further investigation is warranted to elucidate the epigenetic mechanisms underlying the induction of proliferative, migratory, and senescent cellular phenotypes in BAV aortic tissue.…”

Treatment strategies and outcomes following acute type A aortic dissection repair in patients with bicuspid and tricuspid aortic valves: A meta-analysis

“… 33 The disparity in management of ATAAD in patients with BAV and Marfan syndrome is an intriguing area for further investigation, given the similar underlying cystic medial degeneration of the aortic wall in the 2 disorders. 34 …”