Author(s): Soodeh Hooshmandi*, Sina Habibzadeh, Hamed Abbasizadehghoroghchi and Majid Sadeghi
Background: Neonatal Marfan Syndrome (nMFS) is an autosomal dominant fibrous connective tissue disorder caused by a mutation in the Fibrillin-1 gene (FBN1). This condition mostly affects the cardiovascular, ophthalmic, and skeletal systems. The most specific symptom of nMFS is a rapidly progressive cardiovascular disease that, the majority cases of which lead to mortality in the first years of life.
Case report: We present a new case of nMFS that led to the death of the patient within the first months of her life. A post-study was conducted based on the suspicion of nMFS after the patient’s death. Genetic studies revealed mutations in FBN1 Exon 26, FLVCR1 Exon 4, ARSB Exon 1, LARS1 Exon 32, and SCO2 Exon 2. Mutation in FBN1 leads to nMFS, which explained the symptoms of the patient. Severe cardiorespiratory distress was the reason for the patient’s death.
Discussion: Based on the study findings, it can be stated that examining other gene mutations in nMFS will be necessary in case of unusual findings that do not match nMFS.
