Marfan’s Syndrome

The Common Vein Copyright 2007
Ashley Davidoff MD



Marfan syndrome is a multisystem  inherited connective-tissue disorder transmitted as an autosomal dominant trait.

Structurally there is a mutation in the fibrillin -1 gene that encodes the glycoprotein Fibrillin .

Functionally this result in abnormal microfibrils that weaken the wall of the aorta causing aortic root dilatation and aortic dissections .

Clinically patients with Marfans syndrome present with mitral valve prolapse, aortic root dilatation, aortic dissection and calcification of the mitral annulus.

The diagnosis of Marfan’s syndrome is mainly clinical.

The treatment is either medical or surgical based on the presenting symptoms.

Marfan’s Syndrome is a connective tissue disorder caused by a mutation of the fibrillin-1 gene, manifesting as an autosomal dominant abnormality with 25-30% being sporadic mutations.

There are a wide range of clinical presentations with variable involvement of central nervous system, ocular abnormalities, cardiovascular disease, pulmonary disease and musculoskeletal disease

The central nervous system has relatively minor manifestation and disorder is characterized by dural ectasia.

The ocular manifestation includes ectopia lentis and retinal detachment.

The cardiovascular manifestations include mitral valve prolapse, annuloaortic ectasia, with or without aortic insufficiency, aortic dissection aortic aneurysm and pulmonary artery dilatation.

The pulmonary manifestations include bullae and spontaneous pneumothorax.

The musculoskeletal manifestations include scoliosis, pectus excavatum and carinatum, arachnodactyly, and acetabular protrusion.


Sinotubular Ectasia – Marfan’s Syndrome

72712 thoracic aorta sinus of Valsalva aortic sinuses sinotubular junction of ascending aorta sinotubular ectasia fx dilated CTscan Courtesy Ashley DAvidoff MD 72709

Annuloaortic Ectasia with Severe Aortic Regurgitation – Marfan’s Syndrome

35237.800 aorta thoracic annulus bulbous portion sinus annuloaortic ectasia with severe aortic regurgitation Marfan’s syndrome CXR plain film angiogram angiography Courtesy Laura Feldman MD 35241c01


Marfan’s Syndrome Sinus of Valsalva Aneurysm

07974c01 heart cardiac right atrium aortic valve aortic sinus fx right atrial filling defect dx sinus of Valsalva aneurysm of the right aortic sinusprolapsing into the right atrium (RA defect) dx Marfan’s Syndrome MRI T1 weighted Davidoff MD 07973.800 07974c01 07974.800