Marfan syndrome

Marfan syndrome is an inherited connective tissue disorder, usually caused by pathogenic variants in FBN1. It can affect the skeleton, eyes, heart, and blood vessels, especially the aorta.

FBN1: FBN1 is the gene encoding fibrillin-1, a protein in connective-tissue microfibrils. Pathogenic variants in this gene cause most cases of Marfan syndrome.
Connective tissue: Connective tissue supports, binds, and separates other tissues and organs throughout the body. Marfan syndrome alters connective tissue across several organ systems.
Revised Ghent nosology: The revised Ghent nosology is a diagnostic framework for Marfan syndrome that weighs aortic disease, ectopia lentis, family history, and genetic findings. It formalizes how clinicians distinguish Marfan syndrome from overlapping conditions.
Loeys–Dietz syndrome: Loeys–Dietz syndrome is an inherited connective tissue disorder associated with arterial aneurysms and distinctive craniofacial or skeletal findings. It can resemble Marfan syndrome but has different genetic causes and vascular patterns.
Antoine Marfan: Antoine Marfan was a French pediatrician who described a child with the condition later named Marfan syndrome in 1896. His clinical report gave the disorder its name.
Fibrillin-1: Fibrillin-1 is a structural glycoprotein that forms microfibrils in connective tissue. Its altered structure helps explain the weakness of tissues in Marfan syndrome.
Microfibril: A microfibril is a thin extracellular structure built largely from fibrillin proteins. Fibrillin-containing microfibrils are among the structures disrupted by FBN1 variants.
Echocardiography: Echocardiography uses ultrasound to image the heart and nearby blood vessels. It measures the aortic root and monitors cardiovascular changes over time.
Ehlers–Danlos syndrome: Ehlers–Danlos syndromes are inherited disorders of collagen affecting skin, joints, and sometimes blood vessels. Some forms overlap with Marfan features but are associated with collagen-related findings.
Victor McKusick: Victor McKusick was an American physician and medical geneticist who helped establish the field of medical genetics. His work clarified the inherited nature and connective-tissue features of Marfan syndrome.

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