Prenatal diagnosis of Marfan syndrome by fetal echocardiography: A case report and review of cardiovascular manifestations.

Neonatal Marfan syndrome (nMFS), phenotypically and genotypically distinct from the classical syndrome, is rarely diagnosed prenatally, and the cardiovascular prognosis is poor. This case report described one fetus diagnosed with nMFS by fetal echocardiography. The main features were cardiomegaly, and atrioventricular valves prolapse with moderate regurgitation and dilated great vessels. Extracardiac malformations included right diaphragmatic eventration, bilateral pyelectasis, and lengthy femur. Pathological examination confirmed the findings of fetal echo, and all cardiac valves were dysplastic. Sanger sequencing revealed a deletion mutation affecting exon 30 of the fibrillin 1 (FBN1) gene. Echocardiography is essential for prenatal diagnosis, and multivalve dysplasia is common among those patients.