What is Ghent nosology?

What is Ghent nosology?

Ghent nosology is a set of clinical, radiologic and genetic criteria used in diagnosis of Marfan’s syndrome. Pelvic dural ectasia leading to bilateral ureteric obstruction in the pediatric patient.

What is Ghent diagnostic criteria?

Aortic Root Dilatation Z score ≥ 2 AND Systemic Score ≥ 7pts = Marfan syndrome – Where aortic root dilatation (Z ≥ 2) or dissection is present, but ectopia lentis is absent and the FBN1 status is either unknown or negative, a Marfan syndrome diagnosis is confirmed by the presence of sufficient systemic findings (≥ 7 …

What type of genetic disorder is Marfan syndrome?

Marfan syndrome is inherited as an autosomal dominant condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is sufficient to cause a particular disease.

Can you have a mild case of Marfan syndrome?

While most cases of Marfan syndrome are inherited, some are due to a spontaneous change in a gene, with no family history. Marfan syndrome can be mild to severe, and may become worse with age, depending on which area is affected and to what degree.

At what age does Marfan syndrome appear?

People are born with Marfan syndrome but they may not notice any features until later in life and some of these features can appear at any age. Some people have many characteristics at birth or as young children. Other people develop aortic enlargement, as teens or even as adults.

Are there any concerns with the Ghent nosology?

These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been…

Why did the Ghent nosology change for Marfan syndrome?

The Ghent nosology clearly attempted to accommodate the fact that some people with ectopia lentis, skeletal findings and even FBN1 mutation have less cardiovascular risk (ie, risk to the aortic root) than seen in classic MFS, by allowing the diagnosis of familial ectopia lentis in the absence of a second major Marfan manifestation.

How are the Ghent criteria used to diagnose MFS?

The Ghent criteria have found worldwide application in helping physicians to diagnose MFS appropriately. New molecular techniques allow the detection of FBN1 mutations in up to 97% of Marfan patients who fulfil the Ghent criteria. 7 8 This suggests that the current Ghent criteria have excellent specificity to identify patients with FBN1 mutations.