Echocardiographic diagnosis of fetal marfan syndrome at 34 weeks' gestation

Abstract

Fetal echocardiography was performed during the third trimester in a normal primigravida. The fetal heart was severely affected with the typical cardiac manifestations of Marfan syndrome. The medical history of the father was investigated and a mild form of the syndrome was diagnosed. The neonate died at 2 months of age of congestive heart failure.

Prenatal Marfan syndrome: report of one case and review of the literature

“…After fetal diagnosis of Marfan the parents were investigated-the mother was healthy but the father turned out to have Marfan habitus. Post-natal examination of the patient showed typical skeletal, skin, ocular and cardiac abnormalities of Marfan syndrome (Lopes et al, 1995). The fetus died at the age of two months of congestive heart failure.…”

Prenatal diagnosis of Marfan syndrome

“…Only a few cases of survival for more than 2 years have been reported 1,3 . Some authors state that neonatal MS is always due to de-novo mutations 1,5 , whereas others describe familial cases in a very small percentage 6 .…”

Improved outcome with composite graft versus homograft root replacement for children with aortic root aneurysms

“…Better screening, particularly echocardiography, for Marfan's syndrome has refocused attention on children [17]. In selected cases prenatal diagnosis of Marfan's syndrome has become possible using fetal echocardiography [18].…”