What is Marfan’s Syndrome

It is a connective tissue disorder inherited as autosomal dominant trait due to mutation in the fibrillin-1 gene, a component of extracellular matrix. The fibrillin gene is located in the long arm of chromosome 15 (15q21.1).
Clinical Features
Marfan’s syndrome is characterized by triad of eyes, skeletal and cardiac abnormalities.


• Blue sclera.
• Subluxation or dislocation of lens (ectopialentis).
• Iridodonesis (tremor of iris).
• Heterochromia iris (various colour of iris).
• Myopia.
• Retinal detachment.
• Glaucoma.


• Tall, lean and thin.
• Arachnodactyly.
• Hyperextensibility of joints.
• High-arch palate.
• Kyphosis, scoliosis or both, pesplanus.
• Pectusexcavatum or carinatum or asymmetry of chest.
• Arm span > height.
• Lower segment > upper segment.


• AR (due to aortic root dilatation, secondary to cystic medial necrosis involving aorta).
• MR (with mitral valve prolapse).


• Dissecting aneurysm.
• Infective endocarditis.
• Heart failure.
Associations in Marfan’s Syndrome
• Cystic disease in lung (may cause recurrent spontaneous pneumothorax), bullae, apical
fibrosis, aspergilloma, bronchiectasis.
• Inguinal or femoral hernia and decreased subcutaneous fat.
• Nodule or papule in skin of neck (Miescher’selastoma).
• Coarctation of aorta.


• X-ray chest (may be normal, aortic aneurysm and unfolding of aorta. Pneumothorax, scoliosis
may be present).
• ECG (to see any arrhythmia).
• Echocardiogram (mitral valve prolapse, aortic regurgitation, mitral regurgitation, aortic root
• CT or CMR (to see aortic dilatation).
• β-blocker (propranolol) reduces aortic dilatation and prevents the risk of aortic rupture or
dissecting aneurysm.
• ACE inhibitor—in Marfan syndrome there is upregulation of TNF-β which is specifically
inhibited by ACE inhibitor. Also prevents aortic root dilatation.
• Avoid strenuous exercise to prevent aortic dissection.
• Surgery—elective replacement of ascending aorta and aortic valve in patient with progressive dilatation of aorta (>5 cm).
• Prophylaxis for infective endocarditis.
• Echocardiography annually.
• Genetic counselling and orthopaedic measures

Pregnancy in Marfan’s Syndrome

• Pregnancy is well-tolerated, if there is no serious cardiac problem. Avoided, if aortic root dilatation is >4 cm with AR.
• Maternal death may occur due to aortic dissection during pregnancy. Early premature abortion may also occur.
• Echocardiogram should be done every 6–8 weeks throughout pregnancy and 6 months postpartum.
• BP should be regularly monitored.
• Vaginal delivery is possible, caesarean section is not done routinely. If aortic root is >4.5 cm delivery should be done at 39 weeks by induction or Caesarean section. β-blocker should be continued throughout pregnancy.