References: Mayo Clinic, WebMed, Medscape

Marfans Syndorme: Marfan syndrome is an inherited disorder that affects

connective tissue. Marfan syndrome most commonly affects the heart, eyes, blood
vessels and skeleton. Treatment usually includes medications to keep your blood
pressure lo to reduce the strain on eakened blood vessels. !as an autosomal
dominant mode of transmission. Marfan syndrome is caused by a defect in the
"ene that enables your body to produce a protein that helps "ive connective tissue
its elasticity and stren"th. The defect itself has been isolated to the FBN1 "ene on
chromosome #$, hich codes for the connective tissue protein fibrillin.
Marfan syndrome features may include:
Tall and slender build.
%isproportionately lon" arms, le"s, fin"ers and toes
& breastbone that protrudes outard or dips inard
& hi"h, arched palate and croded teeth
!eart murmurs
'(treme nearsi"htedness
&n abnormally curved spine
)lat feet
&rachnodactyly *ie, abnormally lon" and thin di"its+, dolichostenomelia *ie, lon"
limbs relative to trunk len"th+, pectus deformities *ie, pectus
e(cavatum and pectus carinatum+, and thoracolumbar scoliosis.
&ortic dilatation, aortic re"ur"itation,aneurysms, Mitral valve prolapsethat
re,uires valve replacement can occur as ell. -cular findin"s
include myopia,cataracts, retinal detachment, and superior dislocation of the lens.
.ernard Marfan as born in Castelnaudary, &ude, )rance on /une 01, #2$2. 3n
#240, he as appointed assistant professor of pediatrics in the 5aris faculty.
Marfan described the disease that still bears his name at a meetin" of the Medical
Society of 5aris in #246. !e presented the case of a $7year7old "irl named
8abrielle, ho had disproportionately lon" limbs. Marfan "ained an international
reputation and as idely reco"ni9ed as a pioneer of pediatric medicine in
)rance. This as very much the case in .ritain, too, here he received an
honorary felloship of the Royal Society of Medicine in #41:.
.erlin criteria *#426+ for dia"nosis of M)S. The 8hent criteria *#446+
)or the skeletal system involvement to be used as criteria for the dia"nosis, at
least 0 ma;or criteria or # ma;or criterion plus 0 minor criteria must be present.
Ma;or skeletal system criteria are as follos:
5ectus carinatum
5ectus e(cavatum re,uirin" sur"ery
& reduced upper7to7loer se"ment ratio *ie, the distance from the head to the pubic symphysis
divided by the distance of the pubic symphysis to the sole+ of less than <.2$
&n increased arm span=to=hei"ht ratio that is "reater than #.<$
& positive rist si"n *ie, the thumb and inde( fin"ers overlap hen encirclin" the
contralateral rist.+
& positive thumb *Steinber"+ si"n *ie, the thumb e(tends beyond the ulnar border of the hand
hen the di"it is held fle(ed in the palm.+
& thoracolumbar scoliosis of more than 0<> or spondylolisthesis
5ro"ressive collapse of the hindfoot, leadin" to pes planoval"us deformity
& protrusio acetabuli of any de"ree *seen on anteroposterior *&5+ radio"raphs of the pelvis+
Minor skeletal system criteria are as follos:
5ectus e(cavatum of moderate severity
/oint hypermobility
!i"h arched palate, ith dental crodin"
)acial appearance *dolichocephaly, malar hypoplasia, enophthalmos, retro"nathia, don7
slantin" palpebral fissures+
Standard radio"raphs
!and radio"raphs may be taken to demonstrate the typical findin" of arachnodactyly.
Specifically, the metacarpal inde( can be calculated by measurin" the ratio of the avera"e
len"th and idth of the second throu"h fourth metacarpals. & ratio of more than 2.2 in males
and 4.4 in females is indicative of arachnodactyly. Camptodactyly can be associated ith
M)S? this abnormal fle(ion at the interphalan"eal ;oint should be noted clinically and on
standard radio"raphs.
-cular system
)or ocular system involvement to be used as dia"nostic criteria, the ma;or criterion or at least
0 minor criteria must be present.
The ocular system ma;or criterion is ectopia lentis *lens dislocation+.
Minor ocular system criteria are as follos:
&n abnormally flat cornea
&n increased a(ial len"th of the "lobe, as measured by ultrasound
& hypoplastic iris or hypoplastic ciliary muscle, causin" myopia.
Cardiovascular system
)or cardiovascular system involvement to be considered dia"nostic criteria, only one of the
ma;or or minor criteria must be present.
Ma;or cardiovascular system criteria are as follos:
%ilatation of the ascendin" aorta, ith or ithout re"ur"itation, and involvin" at least the
sinuses of @alsalva
%issection of the ascendin" aorta
Minor cardiovascular system criteria are as follos:
Mitral valve prolapse, ith or ithout re"ur"itation
%ilatation of main pulmonary artery in the absence of valvular or peripheralpulmonic
stenosis or any other obvious cause in patients youn"er than :< years
Calcification of the mitral valve annulus in patients youn"er than :< years
%ilatation or dissection of the descendin" thoracic or abdominal aorta in patients youn"er than
$< years
5ulmonary system
)or pulmonary system involvement to be considered dia"nostic criteria, one of the minor
criteria must be present.
Ao ma;or pulmonary system criteria e(ist.
Minor pulmonary system criteria are as follos:
Spontaneous pneumothora(
&pical blebs
Skin and inte"ument
)or skin and inte"ument involvement to be considered dia"nostic criteria, the ma;or criteria or
one of the minor criteria must be present.
The ma;or skin and inte"ument criterion is lumbosacral dural ectasia, as depicted by
computed tomo"raphy *CT+ scannin" or ma"netic resonance ima"in" *MR3+.
The minor skin and inte"ument criteria are as follos:
Striae atrophicae that are not associated ith pre"nancy or repetitive stress
Recurrent or incisional hernia .
Requirements for a diagnosis of MFS
3nde( case = Ma;or criteria in at least 0 different or"an systems and involvement in a third
or"an system
)amily member = 5resence of a ma;or criterion in the family history, one ma;or criterion in an
or"an system, and involvement of a second or"an system.
While there is no cure for Marfan syndrome, treatment focuses on preventin" the various
complications of the disease. 3n the past, people ho had Marfan syndrome rarely lived past
:<. With re"ular monitorin" and modern treatment, most people ith Marfan syndrome can
no e(pect to live a more normal life span.
The "oal of sur"ery for Marfan syndrome is to prevent aortic dissection or rupture and to treat
problems affectin" the heartBs valves, hich control the flo of blood in and out of the heart
and beteen the heartBs chambers.
Future and Controversies
Many ne areas of investi"ation into the etiolo"y and effects of M)S e(ist. Some
are on"oin", hereas others ill likely come to the forefront as the disease is
more readily understood.
With re"ard to the skeletal system, investi"ators are seekin" to discover ne modalities by
hich to delay or reduce the pro"ression of scoliosis and assess the effect of hypermobility on
;oint de"eneration and deformity.
Cardiovascular research has focused on tryin" to identify patients at risk for compromise as
early as possible and to determine if medications other than beta7blockers are useful in terms
of their cardioprotective effects.
There are some preliminary data based on murine studies that indicate an an"iotensin 33
receptor anta"onist a"ent *e", losartan+ or transformin" "roth factor7beta neutrali9in"
antibodies may have the potential to reverse some of the primary clinical manifestations in
M)S, such as aortic root dilatation, mitral valve prolapse, lun" disease, and skeletal muscle
dysfunction.CDE
Researchers are also focusin" on the effects of laser sur"ery on the cornea and lens, as ell as
the correction of cataracts and the preservation of si"ht.
8enetic testin" is particularly important. 3t is knon that the FBN1 locus is associated ith
M)S? hoever, it is possible that other "enes may cause a marfanoid habitus ith phenotypic
manifestations similar to those seen in M)S.C06E
Compiled by %r Mohib Airob, Resident, %ept. -f -ncolo"y , .SMMF, .&A8G&%'S!