Marfan's Syndrome

MARFAN SYNDROME

  • Autosomal dominant
  • Defect in a protein called fibrillin-1 coded by fibrillin 1 (FBN1) gene in Chromosome 15q
  • Mutations in FBN2 gene in chromosome 5q give rise to congenital contractural arachnodactyly
  • Fibrillin-1 is essential for the proper formation of the extracellular matrix including the biogenesis and maintenance of elastic fibers.
  • Elastin fibers are found throughout the body but are particularly abundant in the aorta, ligaments and the ciliary zonules of the eye, consequently these areas are among the worst affected.

MANIFESTATIONS OF MARFAN'S SYNDROME
A. Skeletal System

  • Most common and most striking
  • Tall stature, ↑ lower segment length, long extremities
  • Lax joint ligaments (double joint)
  • Arachnodactily (long slender fingers & hands)
  • Long headed (dolicocephalic) with bossing frontal eminences, prominent supraorbital ridges
  • High-arched palate and high pedal arches or pes planus
  • This long, slender body habitus and long, slender limbs are known as dolichostenomelia.
  • Abnormal curvature of the spine (scoliosis) is common, as is abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum.

B.Ocular defects

  • Bilateral subluxation or dislocation of lens (usually superotemporal) - Ectopia lentis Myopia
  • Retinal detachment.
  • Blue Sclera may be seen.

C.CVS defects

  • Mitral valva prolapse is the most common cardiovascular manifestations of Marfan's Syndrome.
  1. Mitral valve prolapse (floppy valve) - Mitral regurgitation more frequent, clinically less important


  • Cystic medionecrosis - dilation of ascending aorta, aortic dissection, severe aortic regurgitation.


  1. The drug which can be used to delay the progression of aortic dilatation in marfan syndrome is Propranolol.


  • MCC of death - rupture of aortic dissections
  • During pregnancy, even in the absence of preconceived cardiovascular abnormality, women with Marfan syndrome are at significant risk of acute aortic dissection, which can be lethal if untreated.
  1. Pregnancy is better avoided in Marfans syndrome with a dilated aortic root.

D. Lungs

  • Marfan syndrome is a risk factor for spontaneous pneumothorax.
  • Marfan syndrome has also been associated with sleep apnea and idiopathic obstructive lung disease.

E. Central nervous system

  • Another condition that can reduce the quality of life for an individual, though not life-threatening, is dural ectasia, the weakening of the connective tissue of the dural sac.
DIAGNOSIS OF MARFAN'S SYNDROME

  • The diagnosis of MFS according to the Ghent standards, the major criteria includes presence of at least four skeletal abnormalities, ectopia lentis, dilation of the ascending aorta with or without dissection, dural ectasia, and a blood relative who meets the same criteria, with or without a DNA diagnosis

Exam Question of:

  • "Marfan - like syndrome" is associated with Homocystinuria.
  • Mutation in Marfan's syndrome is Fibrillin I.
  • Ectopia Lentis may be associated with Marfan's Syndrome.
  • Marfan's syndrome most commonly involves Ascending Aorta.
  • The major criteria to diagnose Marfan's syndrome includes presence of at least four skeletal abnormalities, ectopia lentis, dilation of the ascending aorta with or without dissection, dural ectasia, and a blood relative who meets the same criteria, with or without a DNA diagnosis.
  • Marfan syndrome is an autosomal dominant disorder with features of subluxated lens of the eye and mitral valve prolapsed.
  • The chromosomal defect in a case of Marfan's syndrome lies in Gene on chromosome 15 encoding fibrillin.
  • Acute aortic reguritation can occur as a complication of Marfan's syndrome.
  • The drug which can be used to delay the progression of aortic dilatation in marfan syndrome is Propranolol.
  • Pregnancy is better avoided in Marfans syndrome with a dilated aortic root.
  • Features of Marfan's syndrome are Arachnodactyly/ spider fingers ,Flat foot ,High palate,Dislocation of the lens and Mitral regurgitation.
  • Retinitis pigmentosa is not associated with Marfan's syndrome.
  • Cystic medial necrosis responsible for aortic dilatation and rupture is seen in Marfan's syndrome.
  • Dissecting haematoma is a clinical complication occurring in Marfan's syndrome.
  • In Marfan's syndrome, Aortic aneurysm occurs most commonly in Ascending Aorta.
  • Supratemporal lental subluxation is seen in Marfan's syndrome.
  • Superior rib notching may be caused by Marfan's syndrome.
  • Bilateral ptosis is not seen in Marfan's syndrome.
  • Mitral valva prolapse is the most common cardiovascular manifestations of Marfan's Syndrome.
  • Aortic regurgitation may be seen in Marfan's Syndrome.
  • Blue Sclera may be associated with Marfan's Syndrome..
  • Renal artery stenosis is not associated with Marfan's Syndrome.
  • Revised Ghent Criteria are used for the diagnosis of Marfan's Syndrome
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