Ghent

Ghent is a diagnostic criteria used for the diagnosis of Marfan syndrome, a genetic disorder that affects the body's connective tissue. The Ghent criteria, named after the city in Belgium where it was developed, includes a combination of major and minor clinical manifestations in various organ systems.

Ghent

Overview

Marfan syndrome is a systemic, heritable connective tissue disorder, primarily involving the skeletal, ocular, and cardiovascular systems. The Ghent criteria is a diagnostic tool that helps in the identification of this disorder. It was first established in 1986 and later revised in 2010 to improve diagnostic accuracy.

Diagnostic Criteria

The Ghent criteria includes both major and minor criteria. Major criteria are those that occur frequently in individuals with Marfan syndrome and are less common in other conditions. Minor criteria are features that are present, but are less specific to the syndrome.

Major Criteria

• Aortic root dilation or dissection
• Ectopia lentis (dislocation of the lens of the eye)
• Systemic score of ≥ 7 points (based on a combination of features from the skeletal, ocular, cardiovascular, pulmonary, skin and integument, and neurological systems)
• Positive family history of Marfan syndrome

Minor Criteria

• Systemic score of < 7 points
• Mitral valve prolapse
• Myopia
• Flat feet

Revised Ghent Criteria

In 2010, the Ghent criteria was revised to place more emphasis on the cardiovascular manifestations of Marfan syndrome, specifically aortic root aneurysm and ectopia lentis, which are now the primary features for diagnosis. The revised criteria also includes FBN1 gene testing.

See Also

• Marfan syndrome
• Aortic root
• Ectopia lentis
• Mitral valve prolapse
• Myopia

Ghent Resources
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