Marfan

Autosomal dominant inheritance – disorder of loose connective tissue from defective fibrillin  FBN1 gene on Chr
15q11 
Diagnostic criteria:

Major Minor
Dilation of ascending aorta w/or w/ out aortic regurg and involving Mitral valve prolapse w/ or w/ out
at least the sinuses of valsalva mitral regurg
Dilated main pulmonary artery <40yrs w
Dissection of ascending aorta  no other cause
Calcification of mitral annulus <40 w no
other cause 
Dilation or dissection of descending
aorta <50

Educate parents early!

 Avoid strenuous exercise – encourage fishing and golf instead 
 Sx of aortic dissection i.e. chest pain and syncope 

Treatment options: 
 Beta blockers and ARB for prevention of progressive aortic dilation 🡪 warn teenage girls about rupture in
pregnancy 

Clinical diagnosis – D’s! 

Major Ds: 
 Dilation or dissection of aorta @ level of sinuses of valsalva 
 Displacement of lens (ectopia lentis) upward or early cataract 
 Dural ectasia – lumbosacral: widening of dural sac – complication: posterior vertebral scalloping and
herniation of nerve root sleeves
 Dolichostenomelia – disproportionately long extremities: decreased upper to lower segment ratio
<0.85; or arm-span to height ratio >1.05
Minor D’s 
 Deformed spine; scoliosis >20%
 Deformed sternum: pectus carinatum or excavatum 
 Deep acetabulum w/ accelerated erosion
 Decreased elbow extension <170* -- contradictory bc other joints are hypermobile 
 Digit related signs: 
 Steinberg sign (thumb) – oppose thumb across palm 🡪 the whole distal phalanx will cross the
ulnar border of the hand 
 Walker Murdoch sign (wrist) – overlapping of distal phalanx of thumb and distance phalanx of
little finger when encircling their own wrist. 
 Downward (medial) rotation of medial malleolus = pes planus Flat foot
 Distinctive facial features:
 Dolichoephaly (long head), down-slanting palpebral features, deeply set eyes, decreased malar
prominence (malar hypoplasia), diminished jaw
MARFANS
M Mitral prolapse +/- mitral regurgitation 
A Ascending aorta dilation, high arched palate (w/ tooth crowding) and acetabula
R Regurgitation – mitral, aortic; Retinal detachment; reduced US/LS ratio
F Fibrillin defective; facial features; flat cheekbones; flat cornea; flexible joints 
A Apical blebs on CXR; Air leans = spontaneous pneumothorax; arachnodactly 
N Near sighted; neuro from dural ectasia; nerve entrapment 
S Scoliosis; Sternal deformity; sacral dural ectasia 
QUESTIONS: 
 History 
 Ask about disease; ask about major and minor D’s; previous surgeries; effect on life; sports and
activity limitation 
 Examination + expected clinical findings 
 General features:
 LS>US; Armspan> height; scoliosis (ask pt to bend over to demonstrate);chest wall
deformity; digit related signs; flat foot; facies  
 Cardiac examination – know now to describe murmur 
 Miltral prolapse/ regurg: aortic prolapse/ regurg
 Signs specific for Marfans: 
 Thumb and wrist signs – 
 Steinberg sign (thumb) – oppose thumb across palm 🡪 the whole distal phalanx will cross the
ulnar border of the hand 
 Walker Murdoch sign (wrist) – overlapping of distal phalanx of thumb and distance phalanx of
little finger when encircling their own wrist. 
 Murmurs A/w Marfan’s 
 Murmurs 
 Mitral regurgitation: 
 An opening snap leading to a grumbling, low pitched, mid-diastolic murmur heard
best on expiration w/ patient laying in L lateral position
 Aortic regurgitation: 
 High pitched early diastolic murmur best heard at L sternal edge pt learning forward
with breath held in full expiration 
 How to check for aortic incompetence
 Water-hammer AKA collapsing pulse 
  Corrigan’s sign – dancing carotids 
 Quincke’s sign – capillary pulsation @ nailbeds
 De Musset’s sign- head bob w/ every <3 beat
 How to examine scoliosis 
 Ask pt to remove shirt and stand straight with legs together 
 Look from the front 🡪 are shoulders even 
 Look from the back 🡪 are scapulae even? Is the spine straight 
 Legs straight; put hands together; bend forward and place hands between knees🡪 examine
visually and then use a scoliometer 
 Then look to exaggerated midline hump 
 Joint examination 
 ???