Marfan and Related Fibrillinopathies (original) (raw)

Marfan syndrome (MFS) is a hereditary connective tissue disorder characterized by significant variability in clinical presentation. The diagnosis of MFS has evolved, notably through the 'Ghent nosology,' which highlights the need for involvement of multiple systems. Advances in genetic testing for the FBN1 gene have improved diagnosis, though challenges remain due to cost and the complexity of mutation identification. While no specific therapy exists, early diagnosis is critical for managing potentially life-threatening complications, particularly cardiovascular issues.