A scoping review presenting a wide variety of research on paediatric and adolescent patients with Marfan syndrome

Abstract

Aim The present study aimed to map and summarise the research on children, aged 0‐18 years, with Marfan syndrome, identify research gaps and point to research agendas. Methods A scoping review was systematically performed by searching multiple databases from January 1996 to April 2019. Primary studies presenting results on at least six individuals aged 0‐18 years with Marfan syndrome, diagnosed according to the Ghent nosology, were selected. Results From 2341 de‐duplicated records, 92 papers were included, mapped and described. Their topics were diagnostics (12%), cardiovascular matters (50%), skeletal matters (22%), ocular matters (9%), other medical aspects (5%) and psychosocial perspectives (2%). Most studies were from Europe and North America and published between 1999 and 2019 in subject‐specific or paediatric journals, while a few were published in genetics journals. All studies had quantitative designs, and very few were multicentre studies. Each study had six to 608 subjects for a total of approximately 5809. Conclusion A wide range of research topics on adolescent and paediatric Marfan syndrome was found, but qualitative studies and a focus on psychosocial matters were lacking. Future investigations addressing noncardiovascular consequences and patient experiences are needed, as well as studies reaffirming or replicating existing intervention study results.

Heritable Connective Tissue Disorders in Childhood: Increased Fatigue, Pain, Disability and Decreased General Health

“…Compared to normative data, children and adolescents with HCTD and HCTD-subgroups MFS, LDS, EDS and hEDS reported increased fatigue, pain, disability and decreased general health, with most differences translating into very large-sized effects. These results match our previous qualitative studies on children and adolescents with MFS [9,10] reporting on limitations in activities and participation, and descriptive studies in children with MFS, EDS and hEDS reporting on fatigue, pain and the negative impact on daily (physical) functioning [7,[11][12][13][14][15][16][17]20]. Our results are also in line with studies using standardized validated measures in children with hEDS and HSD reporting on increased fatigue and pain [18], generalized hyperalgesia [21] and disability [17].…”

“…In previous qualitative semi-structured interview studies, parents of children with MFS (4-12 years) and adolescents with MFS (12-18 years) experienced problems of physical functioning, participation in activities and daily life and keeping up with peers [9,10]. Furthermore, studies in children with MFS and hEDS have reported fatigue and pain to negatively impact daily (physical) functioning [7,[11][12][13][14][15][16][17][18][19], a high incidence of pain-related disability [17] and deteriorating physical functioning over time [20]. To our best knowledge, no quantitative studies, using validated questionnaires, have been conducted into pain, fatigue and disability in children with MFS, LDS and molecularly confirmed types of EDS (hereafter EDS).…”

Tricuspid valve prolapse as an early predictor for severe phenotype in children with Marfan syndrome

“…This also suggests that the Marfan phenotype tends to be more pronounced in patients with TVP. It is known that MFS has an impact on quality of life with a high risk for impaired quality of life 14,22 . The absences of cardiovascular manifestations or lower risk of onset and, in particular, interventions are essential for the quality of life experienced by patients.…”

“…It is known that MFS has an impact on quality of life with a high risk for impaired quality of life. 14,22 The absences of cardiovascular manifestations or lower risk of onset and, in particular, interventions are essential for the quality of life experienced by patients. This could potentially have an impact on social performance, school or work performance and self-worth and well-being which is especially important in adolescents.…”

Genotype–Phenotype Correlation in Children: The Impact of FBN1 Variants on Pediatric Marfan Care

“…Variants in the region of exons 24-32 are correlated with a severe form of MFS, called neonatal MFS [10,11]. Detailed information about the individual progress of the disease, with information about the involved organ systems and time of onset of symptoms depending on the specific FBN1 variant in other Marfan patients, is still lacking [12,13]. However, even though the Marfan genotype may not determine the whole progress of disease alone, information of the genotype effect on the phenotype outcome could improve individualized patient care with respect to the timing of follow-up visits, restriction of physical activity, medical treatment, and elective surgery, as a milestone for Marfan care.…”