Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.

Dongwei GuoLiyan LiuKit Yee NgQianzhong CaoDanying ZhengXinyu Zhang Guangming Jin

Published in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2023)

CEL children with FBN1 mutations involving cysteine substitution or mutations in exons 22-42 or with long AL had higher risks of severe cardiovascular complications. Knowing the phenotype may help in anticipating severe cardiovascular disease in CEL patients.

Keyphrases

cardiovascular disease
end stage renal disease
young adults
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
type diabetes
peritoneal dialysis
genome wide
case report
coronary artery disease
copy number
metabolic syndrome
cardiovascular risk factors