Severe aortic root dilatation in infantile Marfan syndrome

Abstract

Cardiovascular manifestations of Marfan syndrome are associated with increased mortality, especially in the pediatric population. Early recognition is critical to long-term management. We present two cases of genetically defined “classical” Marfan syndrome presenting with severe infantile aortic root dilatation among siblings and discuss options for therapy.

Keywords:

• Aortic valve dilatation
• classical Marfan syndrome
• FBN1
• fibrillin
• neonatal Marfan syndrome

ACKNOWLEDGMENTS

The authors thank Sheila Green for assistance with the literature review and Dr. Diane Chico and Dr. Reema Thomas for their editorial review.