A novel FBN1 mutation in Marfan's syndrome with giant aortic root aneurysm.

This article discusses a case of Marfan syndrome (MFS) caused by a novel FBN1 gene mutation. The patient, a 31-year-old man, presented with symptoms of fatigue and shortness of breath. Upon examination, he exhibited physical signs of Marfan syndrome, including arachnodactyly. Diagnostic tests revealed a giant aortic root aneurysm and severe aortic regurgitation. Whole exome sequencing confirmed the presence of a heterozygous deleterious variant in the FBN1 gene. This discovery expands our understanding of FBN1 variants and provides valuable insights for genetic counseling. [Extracted from the article]