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).
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).
• Retinal detachment.
• Tall, lean and thin.
• 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
• 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.