Marfan Syndrome presenting in neonates is uncommon. It is clinically severe and associated with poor survival.
Gene affected: FBN1 (fibrillin 1), usually between exons 23 and 32
Chromosome: 15q21.1
Inheritance: autosomal dominant
Key findings:
(1) mitral valve insufficiency and/or prolapse
(2) tricuspid valve insufficiency
(3) infantile pulmonary emphysema
(4) dilation of the great vessels and aortic root dilatation
(5) arachnodactyly
(6) pneumothorax
(7) lens dislocation
(8) diaphragmatic hernia
(9) variable facial or cranial dysmorphism
Complications:
(1) cardiomegaly with congestive heart failure
(2) respiratory failure
The mortality rate is high with death before 2 years of age.
