Marfan’s Syndrome
Examination (seated)
 Overall
 Tall, disproportionately long limbs compared to trunk
 Upper Limbs
 Arachnodactyly, thumb sign, wrist sign(overlap > 1cm)
 collapsing pulse
 reduced extension of elbows
 Face
 Dolichocephalic(long-headed)
 Blue sclera, iridodonesis, myopia, ectopia lentis (superolateral)
 High arched palate
 Meisher’s elastoma
 No thyroidectomy scar
 Chest
 Pectus excavatum or carinatum
 Thoractomy scar (Hx of repair of aortic aneurysm)
 No gynaecomastia
 LL
 Arachnodactyly
 Stand up
 Kyphoscoliosis
 Abdomen: inguinal or femoral herniae, hernia scars, striae atrophicae
 Genu recurvatum
 Pes planus
 Request
 Cardiovascular examination: MVP, AR
 Respiratory: scar suggestive of chest tube for pneumothorax, pleurodesis
 Lower limbs for weakness and numbness (complications of dural ectasia)
 Measure his arm span to height ratio (>1)
 Measure pubis-sole to pubis-vertex ratio (>1)
Presentation
Sir, this patient has Marfan’s syndrome as evidenced by tall stature with
disproportinately long limbs (also known as dolichostenomilia). He has got
arachnodactyly with hyperextensible joints with positive thumb sign (Steinberg), wrist
sign (Walker), hyperextension of the elbows and genu recurvatum and pes planus.
There is presence of dolicocephaly, with iridodenesis, blue sclera and is myopic. He
has a high arched palate. I did not detect any Meisher’s elastoma (small papules of the
skin of the neck).
There is also kyphoscoliosis with pectus excavatum. Of note there are chest wall scars
suggestive of previous chest tube insertions.
There is no obvious inguinal or femoral hernia, scars or striae atrophicae.
There is no collapsing pulse.
I did not detect any evidence of malar rash or calve swelling suggestive of a DVT
which are features of homocystinuria. There is also no neck scars, mucosal neuromas
or hyperpigmentation to suggest MEN type 2B as these patients have a marfanoid
habitus. There is also no gynaecomastia or eunuchoid habitus to suggest Klinfelter’s
syndrome (say this if patient is a man).
I would like to complete my examination by measuring his arm span to height ratio as
well as his sole-pubis to pubis-vertex ratio; in addition I would like to perform a
cardiovascular examination to look for MVP, AR; a respiratory examination for
plurodesis, as well as lower limb examination for weakness or numbness secondary to
dural ectasia.
Questions
What are the differential diagnoses for a patient who has a tall stature?
 Marfan’s syndrome
 Homocystinuria
 Malar flush, mental retardation, inferomedial ectopia lentis
 Hx of epilepsy, IHD(CABG scar), DVT, osteoporosis
 Presence of homocystine in the urine via cyanide-nitroprusside test
 Autosomal recessive inborn error of metabolism of amino acid with deficiency
of cystathionine beta synthetase
 MEN type 2b
 Hyperpigmentation, mucosal neuromas(lips, tongue, palate, conjunctiva and
cornea), proximal myopathy
 MEN 1: Pituitary, parathyroid, pancreatic (PPP)
 MEN 2a: Parathyroid, adrenals(phaechromocytoma), thyroid (MTC) (PAT)
 MEN 2b: PAT and hyperpigmentation, mucosal neuromas, marfanoid
 Klinefelter’s syndrome
 Male patient, eunuchoid habitus (arm span> height, sole-pubis>pubis vertex,
femenine fat distribution
 Gynaecomastia, lack of beard and axillary hair, voice is not masculine, peasized testes (normal >3.5cm), varicose veins
 Mentally subnormally, infertile
 Rule out hypo-osmia for Kallman’s syndrome (idiopathic hypogonadotrpic
hypogonadism with hypo-osmia, cleft palate/lip, congenital deafness or
blindness which can be treated with gonadotropins and GnRH for fertility)
 Raised FSH and estradiol with low testosterone and chromosomal analysis
47XXY(buccal smear for karyotyping)
 Infertile as majority are 47XXY (80%) and others can be due to more than 2 X
or > 1Y or mosaicism (can be fertile)
 Most common cause of male hypogonadism, 1:500
 Increased risk of DM, Br cancer and SLE
 Increases with increasing maternal or paternal age
What is Marfan’s syndrome?
 It is an inherited autosomal dominant connective tissue disorder
 Affecting the skeletal system, cardiovascular system with ocular abnormalities
 1 in 15 000
 Male=Female
What is the mode of transmission of Marfan’s syndrome?
 Autosomal dominant
 Chromosome 15q21
 Defects in fibrillin gene
How is Marfan’s syndrome diagnosed?
 Based on the Ghent criteria which takes into account
o Family history
o Molecular studies
o 6 organ systems
 Skeletal
 Skin
 Eye
 CVS
 Pulmonary
 Dura (dura ectasia)
What are the ocular features of Marfan’s syndrome?
 Small spherical lens
 Cataracts
 Lens subluxation
 Glaucoma
 Hypoplasia of dilator pupillae, therfore difficulty with pupillary dilatation
 Flat cornea
 Myopia
 Retinal detachment
 Increased axial length of the globe
How would you investigate?
 Molecular studies
 Annual echocardiography
 Monitor aortic diameter (normal <40mm, composite graft required if >50mm)
 MV function
 Ophthalmic examination
How would you manage?
 Education and psychological counselling
 Annual cardio review
 Beta-blockade (retards rate of aortic root dilatation)
 Aortic root graft >50mm
 IE prophylaxis
 Eye review
What is the prognosis?
 Death due to cardiovascular complications
 Aortic dissection
 CCF secondary to AR
 Life span is about mid forties
What are the complications of pregnancy in Marfan’s syndrome?
 Early premature abortion
 Death from aortic dissection (safe if aortic root<40mm)
How would you counsel patient?
 Affected individuals can transmit the condition to 50% of their offspring.
 The recurrence risk is 50% if 1 parent is affected. The recurrence risk is small if
neither parent is affected.
 During counseling, the variability of the disease should be emphasized, as an
affected child may be more or less affected than the parent.
How do you assess hypermobility?
 Beighton’s 9 point scale
 passive dorsiflexion of the little finger beyond 90°
 passive apposition of the thumb to the flexor aspects of the forearm
 hyperextension of the elbow beyond 10°
 hyperextension of the knee beyond 10°
 forward flexion of the trunk, with the knees straight, so the palms of the hands
rested easily on the floor
 If 4 or more => Joint laxity
What are the causes for hypermobile joints?
 Benign Joint Hypermobility Syndrome (Majority)
 Ehlers Danlos Syndrome
 Marfan’s syndrome
 Osteogenesis Imperfecta
What are the causes of blue sclera?
 Marfan’s syndrome
 Ehlers Danlos Syndrome
 Osteogenesis Imperfecta
 Pseudoxanthoma elasticum
 Chronic steroid intake