Severe laryngomalacia in a 1-month infant with Marfan syndrome

ABSTRACT

Severe respiratory difficulty can be more prominent, when combined with severe pectus excavatum and cardiovascular manifestations in infants with Marfan syndrome. There have been few reports on severe laryngomalacia as a cause of severe respiratory difficulty in an infant with Marfan syndrome. A 1-month-old boy was admitted due to severe respiratory difficulty. Immediately after birth, he had dysmorphic features, such as micrognathia, wrinkles on the forehead, and down-slanting palpebral fissures. On echocardiography, aortic root dilation with a mitral valve prolapse was observed. Due to severe laryngomalacia accompanied by severe respiratory difficulty and feeding difficulty, a partial epiglottectomy was performed at 1 month of age. After the surgery, suprasternal retraction and inspiratory stridor disappeared, and he started gaining weight with improvement in respiratory difficulty. On whole exome sequencing, a missense mutation on the FBN1 gene (c.3560A> C on exon 29, p.His1187Pro, calcium-binding epidermal growth factor-like #21) was identified. Despite higher perioperative risk due to comorbidities in Marfan syndrome, early intervention of laryngomalacia can be helpful in improving quality of life even in infants with Marfan syndrome.