Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome

An infant with neonatal Marfan syndrome is described who presented with ara chnodactyly, distinctive dysmorphic features and prolapse of both atriovent ricular valves and dilatation of both the aortic and pulmonary root. She di ed in cardiac failure shortly after pacemaker implantation, due to dysrhyth mia and severe mitral insufficiency. At autopsy, apart from myxomatous chan ges of the valves and dilated aortic and pulmonary roots, an aneurysm of th e sinus of Valsalva of the pulmonary valve and abnormal myxomatous connecti ve tissue surrounding the AV node were also found. Molecular genetic studie s showed a point mutation in the fibrillin 1 gene that creates a new N-glyc osylation site, which has been described once before.