English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Currently, no reliable genotype-phenotype correlation is available for pediatric Marfan patients in everyday clinical practice. We investigated correlations of FBN1 variants with the prevalence and age of onset of Marfan manifestations in childhood and differentiated three groups: missense/in-frame, splice, and nonsense/frameshift variants. In addition, we differentiated missense variants destroying or generating a cysteine (cys-missense) and alterations not affecting cysteine. We categorized 105 FBN1 -positive pediatric patients. Patients with cys-missense more frequently developed aortic dilatation ( p = 0.03) requiring medication ( p = 0.003), tricuspid valve prolapse ( p = 0.03), and earlier onset of myopia ( p = 0.02) than those with other missense variants. Missense variants correlated with a higher prevalence of ectopia lentis ( p = 0.002) and earlier onset of pulmonary artery dilatation ( p = 0.03) than nonsense/frameshift, and dural ectasia was more common in the latter ( p = 0.005). Pectus excavatum ( p = 0.007) appeared more often in patients with splice compared with missense/in-frame variants, while hernia ( p = 0.04) appeared earlier in the latter. Findings on genotype-phenotype correlations in Marfan-affected children can improve interdisciplinary therapy. In patients with cys-missense variants, early medical treatment of aortic dilatation seems reasonable and early regular ophthalmologic follow-up essential. Patients with nonsense/frameshift and splice variants require early involvement of orthopedic specialists to support the growing child.

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