Cardiovascular Diseases & Diagnosis

Department of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Publications

• Case Report   
  Neonatal Marfan Syndrome: A Case Report of Unusual Findings
  Author(s): Soodeh Hooshmandi*, Majid Sadeghi, Hamed Abbasizadehghoroghchi and Sina Habibzadeh
  
  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.. Read More»
  DOI: 10.37421/2329-9517.2025.13.636

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