Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses

Abstract

The purpose of this study was to explore the literature on quality of life (QoL) in patients with hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome (MFS), Loeys‐Dietz syndrome (LDS), vascular Ehlers‐Danlos syndrome (vEDS) and other HTAAD diagnoses, critically appraising and synthesizing the relevant literature. A systematic review was performed by searching the published literature using available medical, physical, psychological, social databases and other sources. Studies addressing QoL in persons with an HTAAD diagnosis, published in peer‐reviewed journals were assessed. Of 227 search results, 20 articles satisfied the eligibility criteria. No studies of QoL in LDS, vEDS, or other HTAAD were found, only on MFS. Most studies had been published in the last 3 years. All were cross‐sectional quantitative studies besides one pilot intervention study. Most studies were of small sample size, had low response rate or participants without verified diagnosis. Despite these limitations, most studies indicate that having an HTAAD diagnosis as MFS may negatively impact QoL, but few studies found any associations between the biomedical symptoms and decreased QoL. More research is needed on QoL in samples with verified HTAAD diagnosis to develop evidence‐based knowledge and appropriate guidelines for these diagnoses.

A Review of Psychosocial Factors of Marfan Syndrome: Adolescents, Adults, Families, and Providers

“…[42][43][44] A similar concept of combining terms of QoL was also utilized in the Velvin et al 32 In this study, the authors focus on QoL and all age groups with hereditary thoracic aortic aneurysm and dissection diagnoses. 32 The studies reviewed here used validated measurements to quantify QoL in the pediatric populations; either using the KINDL-R questionnaire or pediatric quality of life inventory (PedsQL) 4.0. 17,18,26 Studies examining QoL in young patients with MFS have found mixed results.…”

“…Velvin et al 32 chronic genetic disorders like MFS to aid adolescents accept their condition and become more autonomous in their treatment. 13…”

“…In this study, we used the term QoL and categorize other similar terms, such as "well-being," "satisfaction with life" (SWL), and "healthrelated quality of life" (HRQoL) under the overarching theme of QoL. [42][43][44] A similar concept of combining terms of QoL was also utilized in the Velvin et al 32 In this study, the authors focus on QoL and all age groups with hereditary thoracic aortic aneurysm and dissection diagnoses. 32 The studies reviewed here used validated measurements to quantify QoL in the pediatric populations; either using the KINDL-R questionnaire or pediatric quality of life inventory (PedsQL) 4.0.…”

“…Of the literature reviewed and categorized into the adults theme, 23 articles evaluated either QoL directly or factors that impact QoL such as employment in adults. 9,11,12,14,[19][20][21][22][23][24][25]27,28,[30][31][32]40,49,[53][54][55][56][57] Velvin et al and Velvin et al are two reviews that focus on QoL. Having a diagnosis of MFS alone will likely impact QoL.…”

Internalizing and externalizing behaviors in chronically ill adolescents in the context of family system functioning

“…There is an insufficient number of studies on the psychosocial aspects of functioning of children and adolescents with Marfan syndrome. So far, the studies have concentrated on the quality of life but their results are not consistent (Velvin, Wilhelmsen, Johansen, Bathen, & Geirdal, 2019). On one hand, the results of the research of Handisides et al (2019) (n = 321) indicate that children and adolescents have a lower quality of life than the general population, what is in accordance with a smaller study of Johansen et al (2013) which included 10 parents of children with Marfan syndrome.…”