Marfan syndrome
Updates to Article Attributes
Marfan syndrome is a multi system hereditary connective tissue disease with a high penetranceautosomal dominant inheritance which primarily involving skeleton, eyes, and variable expressioncardiovascular systems.
Epidemiology
It is inherited in an autosomal dominant fashion in a majority of cases, although up to a 1/3rd of cases result from spontaneous mutations. The disease has a high penetrance with variable expression. The estimated prevalence ranges around 2-6 per 100000 2,5. There is no recognised gender predilectionor racial predilection.
Diagnostic criteria
The Ghent nosology was established in 1995 for clinical diagnosis of the disease 7. Individuals require either two major and one minor feature or one major and four minor feature for diagnosis
Pathology
Results from a defect in fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross linking collagen.
Disease spectrum and associated features
Skeletal
-
general
- tall stature
- osteopaenia 1
- joint laxity
- recurrent dislocations
- spine/skull
-
pelvis / lower limbs
- progressive protrusio acetabuli
- slipped upper femoral epiphyses (SUFE)
- tibial subuxation 5
- patella alta
- pes planus
- hallux valgus
- clubfoot
-
hands
- arachnodactyly
- protrustion of thumb beyond fist when clenched (Steinberg sign)
- flextion deformity of 5th finger
- chest wall deformities (present in up to 2/3rds of cases 2)
Cardiovascular
Cardiovascular complications tendare predominantly due to be mostcystic medial necrosis of the vessels and are the most frequent cause of death2.
- arterial dissection
- aortic aneurysm
- aortic valve regurgitation (AR)
- aortic coarctation
- aortic sinus dilatation
- myxomatous degeneration of the mitral valve
- pulmonary arterial dilatation
Ocular
- ectopia lentis: lens usually displaced upwards and out
- myopia
- retinal detachment
- megalocornea
Chest
- spontaneous pneumothorax
- lung cysts and bullae formation
Radiographic features
Please refer to individual articles for respective features.
History and etymology
First described in 1896 by Antoine Bernard-Jean Marfan: French pediatrician (1858-1942).
Differential diagnosis
- patients with Loeys-Dietz syndrome have similar feautures to Marfan syndrome
- patients with homocystinuria may resemble those with Marfan syndrome in some aspects 8
- patients with multiple endocrine neoplasia type IIb may have a Marfan syndrome like body habitus
- patients with the Beals syndrome have some features of Marfan syndrome
-<p><strong>Marfan syndrome</strong> is a multi system <a href="/articles/hereditary-connective-tissue-disease">hereditary connective tissue disease</a> with a high penetrance and variable expression.</p><h4>Epidemiology</h4><p>It is inherited in an autosomal dominant fashion in a majority of cases, although up to a 1/3<sup>rd</sup> of cases result from spontaneous mutations. The disease has a high penetrance with variable expression. The estimated prevalence ranges around 2-6 per 100000 <sup>2,5</sup>. There is no recognised gender predilection.</p><h4>Diagnostic criteria</h4><p>The Ghent nosology was established in 1995 for clinical diagnosis of the disease <sup>7</sup>. Individuals require either two major and one minor feature or one major and four minor feature for diagnosis</p><h4>Pathology</h4><p>Results from a defect in fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross linking collagen.</p><h4>Disease spectrum and associated features</h4><h5>Skeletal</h5><ul>- +<p><strong>Marfan syndrome</strong> is a multi system <a href="/articles/hereditary-connective-tissue-disease">connective tissue disease</a> with autosomal dominant inheritance which primarily involving skeleton, eyes, and cardiovascular systems.</p><h4>Epidemiology</h4><p>It is inherited in an autosomal dominant fashion in a majority of cases, although up to a 1/3<sup>rd</sup> of cases result from spontaneous mutations. The disease has a high penetrance with variable expression. The estimated prevalence ranges around 2-6 per 100000 <sup>2,5</sup>. There is no recognised gender or racial predilection.</p><h4>Diagnostic criteria</h4><p>The<strong> Ghent nosology</strong> was established in 1995 for clinical diagnosis of the disease <sup>7</sup>. Individuals require either two major and one minor feature or one major and four minor feature for diagnosis</p><h4>Pathology</h4><p>Results from a defect in fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross linking collagen.</p><h4>Disease spectrum and associated features</h4><h5>Skeletal</h5><ul>
-</ul><h5>Cardiovascular</h5><p>Cardiovascular complications tend to be most frequent cause of death <sup>2</sup>.</p><ul>- +</ul><h5>Cardiovascular</h5><p>Cardiovascular complications are predominantly due to cystic medial necrosis of the vessels and are the most frequent cause of death <sup>2</sup>.</p><ul>
Unable to process the form. Check for errors and try again.