Marfan syndrome

Toddler with
a connective tissue disease. CXR AP shows a prominent aortic arch and left lateral border of the aorta due to aortic ectasia.The diagnosis was Marfan Syndrome.
pediatricimaging.org • CC-by-nc-sa 4.0
Imaging of
Marfans syndrome. Chest radiograph showing scoliosis.
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Anterior
Sacral Meningocele in Marfan Syndrome. Sagittal MRI T2 sequence of the lumbar spine demonstrating herniation of the dura through the sacrum (arrow) in keeping with large anterior sacral meningocele.
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Anterior
Sacral Meningocele in Marfan Syndrome. Arterial phased sagittal image of the lower abdomen demonstrating the posterior vertebral scalloping due to dural ectasia and the large anterior sacral meningocele.
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Visualisation
of aortic flow disturbance in Marfan syndrome by 4D phase-contrast CMR. Still frames from a movie showing 4D flow images of the aorta of a patient with Marfan syndrome (top row, A-C), and a healthy volunteer (bottom row, D-F). Arrows highlight turbulent, complex vortex formation.
jcmr-online.biomedcentral.com • CC-by-2.0
Combined
cardiac surgery in a Marfan syndrome patient with severe scoliosis via lower hemisternotomy: a case report. Postero-anterior and lateral chest X-ray showing severe scoliosis (Cobb angle measurement of 84 degrees)
surgicalcasereports.springeropen.com • CC-by-4.0
Combined
cardiac surgery in a Marfan syndrome patient with severe scoliosis via lower hemisternotomy: a case report. Preoperative chest computed tomography showing deformity of the pleural cavity and distortion of spine
surgicalcasereports.springeropen.com • CC-by-4.0
Combined
cardiac surgery in a Marfan syndrome patient with severe scoliosis via lower hemisternotomy: a case report. Three-dimensional reconstruction imaging showing the surgical incision line for lower hemisternotomy (white dotted line). The right coronary artery arises from the anteromedial surface of the ascending aorta (white arrowhead)
surgicalcasereports.springeropen.com • CC-by-4.0
Imaging of
Marfans syndrome. X-ray of both hands showing long and slender metacarpals suggestive of arachnodactyly.
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Imaging of
Marfans syndrome. CT-Aortography showing annuloaortic ectasia with effacement of sinotubular junction with aortic root dilatation.
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Visualisation
of aortic flow disturbance in Marfan syndrome by 4D phase-contrast CMR. 3D Phase-contrast image, with clip-planes dividing the aorta into six anatomical segments.
jcmr-online.biomedcentral.com • CC-by-2.0
Imaging of
Marfans syndrome. MRI spine showing dural ectasia of lumbo-sacral spine.
www.eurorad.org • CC by-nc-sa-4.0
Anterior
Sacral Meningocele in Marfan Syndrome. Axial MRI T2 sequence of the lumbar spine demonstrating herniation of the dural through the sacrum (arrow) in keeping with large anterior sacral meningocele.
www.eurorad.org • CC by-nc-sa-4.0
Acute abdomen
due to torsion of the wandering spleen in a patient with Marfan Syndrome. Anteroposterior Angio-CT showing enlarged spleen in lower right hemiabdomen.
wjes.biomedcentral.com • CC-by-2.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease.

Epidemiology

The estimated prevalence is around 2-6 per 100,000 . There is no recognized gender or racial predilection.

    Clinical presentation

    Patients with Marfan syndrome may have the following symptoms and signs:

    Patients may present with complications of the disease such as aortic dissection and pneumothorax.

    Diagnostic criteria

    The Ghent nosology was established in 1995 for the clinical diagnosis of the disease .

    Pathology

    Genetics

    The condition results from a mutation in the fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross-linking collagen. In the majority of cases it is inherited in an autosomal dominant fashion, although in up to one-third of cases the mutation is de novo. The disease has high genetic penetrance but with variable phenotypic expression even amongst affected family members.

    Studies show a regulatory relationship between extracellular microfibrils and TGFβ signaling, so an abnormality in either can cause a Marfanoid phenotype .

    Microscopic appearance

    Microscopically the arterial walls may show cystic medial necrosis .

    Radiographic features

    There are no specific radiographic features of Marfan syndrome but the following signs and complications of the disease may be seen in each system on a range of modalities:

    Skeletal
    Cardiovascular
    Pulmonary

    Treatment and prognosis

    Beta blockers are shown to reduce the rate of aortic root dilatation. In patients who can not take beta-blockers, calcium-channel blockers are used. More recently, investigators found that angiotensin receptor blockers which are also TGFβ antagonists significantly reduce cardiovascular and other somatic features . Cardiovascular complications are the most frequent cause of death .

    Some of the more newer treatment options include.

    History and etymology

    First described in 1896 by Antoine Bernard-Jean Marfan, French pediatrician (1858-1942).

    Differential diagnosis

    Siehe auch:
    und weiter:
    Assoziationen und Differentialdiagnosen zu Marfan-Syndrom:
    Meningozele
     
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    Duraektasie
     
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    Loeys-Dietz-Syndrom
     
    bmcmedgenet.biomedcentral.com • CC-by-4.0
    Arachnodaktylie
     
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