Introduction:
Marfan syndrome is an autosomal dominant connective tissue disorder in which abnormalities occur in the cardiovascular, skeletal, ocular and pulmonary systems. Neonatal Marfan syndrome (nMFS) is the rare and severe form caused by mutations in the fibrillin 1 gene (FBN1) located on chromosome 15q21.1. The relative infrequency of this syndrome hampers the early diagnosis. We describe a case of nMFS diagnosed because of family history, dysmorphic features and cardiac abnormality.
Case Description:
This infant was the third child of non-consanguineous parents. Father had Marfan syndrome for many years. He has had aortic valve replacement and multiple eye surgeries. The mother and their other 2 children are healthy. The infant was born at term by spontaneous vaginal delivery with a birth weight of 3200 gram (25th percentile) and a length of 51 cm (> 50th percentile). Physical examination revealed long and protruding ears, micrognathia, high palate, arachnodactyly and undescended testicles. No heart murmur. Echocardiogram showed aortic root dilatation measured 1.6 cm (Z = 2.94). Molecular genetic studies showed a mutation in exon 31 of the FBN1 gene in the infant and Father. The infant is treated with losartan, an angiotensin II type 1 receptor blocker that has potential role in treatment of Marfan syndrome.
Conclusion:
Neonatal Marfan syndrome is associated with poor outcome, 50% of affected infants dying during the first year of life due to cardiac complications. Therefore, it is important to recognize nMFS in utero and shortly after birth to initiate the appropriate investigation and management.