Clinical Analysis Of 14 Children With Marfan Syndrome

Objective:Study the typical clinical manifestations,echocardiograph y and gene testing of Marfansyndrome(MFS)to guide the clinical diagnosi s rapidly,intervene the cardiovascular malformation early and to improve t he prognosis of MFS.Methods: Collecting the patients who were admitted to children's ho spital affiliated to chongqing medical university from December 2012 to O ctober 2019 and were diagnosed with MFS or potential MFS according to 2010 Ghent,The clinical data including general clinical data and imaging dat a of MFS patients were retrospectively analyzed,one MFS family received the Genetic analysis.Results:14 children were diagnosed with MFS or potential MFS,age d 1.3 years to 14 years,the average age was 8.4 ± 3.9 years,the sex ratio was 4:3(8 males,6 females).12(85.7%)patients were diagnosed with M FS,2(14.3%)patients were diagnosed with potential MFS.Among the 14 patients,9(64.3%)patients had a family history.The body mass index(B MI)of all the 14 patients was lower than the fiftieth percentile of children of the same age,and was common to be skinny.All the 14 patients were a ssociated with bone and cardiovascular system diseases.In terms of the in cidence of cardiac diseases,arterial sinus widening and dilatation was the highest with 71.4%.The incidence of mild to moderate TR and MR were t he most common,which were 92.9% and 92.3% respectively.About 35.7% had mitral valve prolapse(MVP),among them,mitral anterior lobe pr olapse(PAL): mitral double lobe prolapse(PBL)was 4:1.The incidence of TVP was 21.4%.The incidence of CHD was 42.9%,and ASD was more common.About 37.5% were associated with visual system diseases.The results of target region acquisition and sequencing of one proband showed that it carried the mutation of FBN1 gene c.3539G>T,which was a new mutation site that had not been reported.The pedigree verification sho wed that the heterozygous variation of this locus was found in the mother a nd brother of the proband,but not in the father of the proband.At the same time,SIFT,polyphen-2 and REVEL software analysis predicted that the m utation was pathogenic.The protein domain prediction analysis(ncbi-cdd)mutation site was located in the domain EGF_CA,resulting in the abnorma lity of the conserved EGF_CA domain containing calcium binding.Conclusion:The average age of children with MFS was school-age c hildren,and males were slightly higher than females.Most of the children h ad a family history of MFS and typical horse shape,mainly involving bone and cardiovascular system disease.Cardiovascular lesions of MFS often in volve the aortic root.Echocardiography can quickly measure the diameter o f the aorta and monitor its expansion rate,providing a basis for the treatmen t and prognosis of MFS.As an autosomal dominant genetic disorder,a new mutation site of FBN1 was found,resulting in abnormal structural domain of EGF_CA,a conserved sequence containing calcium binding,which may affect the stability of fibrinoilin-1 protein.