Disorders of the Aorta and Aortic Valve in Connective Tissue Diseases

Abstract

Purpose of Review The incidence of aortic valve disease in inherited connective tissue disorders is well documented; however, recent studies have only begun to unravel the pathology behind this association. In this review, we aim to describe the etiology, clinical manifestations, management, and prognosis of aortic and aortic valvular disorders that co-exist in a variety of connective tissue diseases. An extensive literature review was performed in PubMed. Articles from 2008 to 2018 were included for review. Predetermined search terms used in PubMed include "aortic manifestation of connective tissue diseases" and "aortic valve disorders in rheumatologic disease." Recent Findings Manifestations of aortic valve disease in the context of connective tissue disorders include valvular stenosis, regurgitation, and/or thoracic aortic aneurysms. Both inherited and inflammatory connective tissue disorders contribute to aortic valve damage with increased susceptibility associated with specific gene variants. Summary Anti-inflammatory and immunosuppressive therapies have demonstrated beneficial results in Marfan's syndrome, Behcet disease, rheumatoid arthritis, ankylosing spondylitis, and systemic sclerosis, often leading to remission. Yet, such therapy is less effective in other disorders compared to alternative treatments such as surgical intervention. Additionally, regular echocardiographic studies should be recommended to those suffering from these disorders, especially those at higher risk for cardiovascular involvement. Given the rates of relapse with immunosuppressants, even following aortic valve replacement, further studies are needed to determine if certain dosing and/or combinations of immunosuppressants could be given to those diagnosed with connective tissue diseases to prevent progression of aortic valve involvement.

Increased risk of valvular heart disease in patients with ankylosing spondylitis: a nationwide population-based longitudinal cohort study

“…13 Studies have demonstrated a possible role for VHD as a predictive factor for the severity of AS. 11,12 The presence of VHD is related to the duration of AS and predicate for peripheral joint involvement. 14,15 The association between AS and VHD raises interesting and important issues since valve involvement is a potential risk for heart failure or even death.…”

“…4 Grygiel-Górniak et al . 11 reported that approximately 80% of patients with AS have aortic valve and/or aortic root involvement. 12 Overall, aortic regurgitation is the most frequently reported VHD in patients with AS.…”

Prevalence of aortic stenosis and TAVR outcomes in patients with systemic sclerosis‐associated pulmonary hypertension

“…Previous studies have described only case reports of severe aortic valve stenosis requiring aortic valve replacement in patients with SSc, with only three case reports in the last decade. 15 In 2019, contrary to prior literature, Butt et al 16 demonstrated an increased risk of AS in patients with scleroderma as compared to matched controls in addition to numerous other cardiac manifestations. This retrospective cohort study utilizing the Danish healthcare registers reported an incidence rate of AS to be 0.29 per 100 person years as compared to 0.10 in their matched controls with HR (2.99; 95% CI: 2.25-3.97) among patients with scleroderma.…”

Multimodality Evaluation of Aortic Insufficiency and Aortitis in Rheumatologic Diseases

“…Histopathological findings of the affected aortic valve, root and sinuses include fibrous tissue deposition in the adventitia and intima resulting from platelet aggregation and fibroblast activation ( 23 ). It is thought that inflammation and subsequent dilatation of the aortic root in ankylosing spondylitis eventually lead to fibrotic thickening and shortening (i.e., inward rolling) of the aortic cusps and increased aortic stiffness ( 24 , 25 ).…”