Health‐related quality of life is unimpaired in children and adolescents with Marfan syndrome despite its distinctive phenotype

• DOI: 10.1111/apa.13264
• Publication Date: 2015-11-14T04:54:49Z
• Authors: Goetz C. Mueller; Kristoffer Steiner; Jeske M. Wild; Veronika Stark; Rainer Kozlik‐Fel...; Thomas S. Mir
• Keywords: Male; 03 medical and health sciences; Phenotype; 0302 clinical medicine; Adolescent; Quality of Life; Humans; Female; Prospective Studies; Child; Marfan Syndrome; 3. Good health

Marfan syndrome (MFS) is a progressive, life-threatening genetic disorder of the connective tissue, which causes impaired quality life (QoL) in adults. This study investigated children and adolescents, taking into account their gender, age how MFS affected organs.This prospective nonrandomised single-centre included 46 patients with verified mean 10.98 years (±3.72). QoL was measured using self-reported, multidimensional KINDL-R questionnaire compared an age-matched control group 174 adolescents.No significant overall reduction found. Total scores for diagnosed at four to seven were same as (77.65 ± 9.37 versus 77.06 11.72), but they higher aged eight 16 (75.15 9.19 70.46 11.35, p = 0.025). No gender-specific differences or impairments during adolescence observed (p > 0.05). Analysis effect organ manifestation on showed better equal 0.05), despite distinctive phenotypes such ectopia lentis.QoL fairly good paediatric MFS, there no impairment adolescence. Despite phenotype, unimpaired younger patients.