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MRCP PACES Cardiology > Marfan's Syndrome > Flashcards

Marfan's Syndrome Flashcards

1
Q

What is Marfan’s syndrome

A

Autosomal dominant chromosome 15 connective tissue disorder defects in fibrillin-1 gene

Affects skeletal, cardiovascular, ocular

Males and females equally affected, 1 in 15,000

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2
Q

What are the examination findings/signs of Marfan syndrome?

A

Overall - tall, disproportionately long limbs compared to trunk
- Arm spam > height (dolichostenometia)

Upper limbs
- Arachnodactyly, thumb sign, wrist sign (overlap > 1cm)
- Thumb (Steinberg) sign - thumb enclosed on clenched hand protudes beyond ulnar border
- Wrist (Walker) sign - 1st and 5th digit of one hand overlap when wrapped around opposite wrist
- Collapsing pulse (AR)
- Reduced extension of elbows???

Face
- Dolichocephalic (long headed)
- Ocular: blue sclera, iridonesis (lens dislocation upwards) - tremor of the iris
myopia, ectopia lentis - requires dilatation and slit lamp
- High arched palate
- Bifid uvula - Loeys-Dietz syndrome - aortic dissection/rupture at early age
- Meisher’s elastoma
- No thyroidectomy scar (feature of MEN)

Chest
- Pectus excavatum or carinatum
- Thoracotomy scar (aortic aneurysm repair)
- Lateral chest scars (pneumothorax, pleurodesis)
- No gynaecomastia (feature of Klinefelter)

Standing
- Kyphoscoliosis
- Inguinal, femoral or incisional hernia, hernia scar
- Striae atrophicae
- Genu recurvatum
- Pes planus
- Lower limb weakness/numbness (dural ectasia complication)
- Meischner’s elastoma - small nodules/papules on skin of neck

Others
- Arm span to height ratio > 1
- Pubis-sole to pubis-vertex ratio > 1

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3
Q

What are the differentials for a patient with tall stature?

A
  1. Marfan’s syndrome
  2. Homocysteinuria
  3. MEN type 2b
  4. Klinefelter’s syndrome
  5. Gigantism in young hyperthyroidism
  6. Acromegaly
  7. Normal variant
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4
Q

What are the ocular features of Marfan’s syndrome?

A
  1. Small spherical lens
  2. Cataracts
  3. Lens subluxation upwards
  4. Glaucoma
  5. Hypoplasia of dilator pupillae - pupils dilation difficulty
  6. Flat cornea
  7. Myopia
  8. Retinal detachment
  9. Increased axial length of globe
  10. Blue sclera or heterochromia
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5
Q

What are the causes of blue sclera?

A
  1. Marfan’s syndrome
  2. Ehlers Danlos syndrome
  3. Osteogenesis imperfecta
  4. Pseudoxanthoma elasticum
  5. Chronic steroid intake
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6
Q

What are the causes of hypermobile joints?

A
  1. Benign joint hypermobility syndrome (majority)
  2. Ehlers Danlos syndrome
  3. Marfan’s syndrome
  4. Osteogenesis imperfecta
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7
Q

How to assess hypermobility?

A

Beighton’s 9 point scale
- Passive dorsiflexion of little finger > 90 degree
- Passive apposition of thumb to flexor aspect of forearm
- Hyperextension of elbow > 10 degree
- Hyperextension of knee > 10 degree
- Foward flexion of trunk with knee straight -> palms of hands rested easily on floor

If 4 or more points = joint laxity

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8
Q

What are the causes of high arched palate?

A
  1. Marfan’s syndrome
  2. Turner’s syndrome
  3. Friedreich’s ataxia
  4. Tuberous sclerosis
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9
Q

Cardiovascular features of Marfan’s syndrome

A
  1. Aortic root aneurysm/dilatation (70-80%) -> dissection
  2. Aortic regurgitation
  3. Mitral valve prolapse and MR
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10
Q

What are the causes of heterochromia of irides?

A
  1. Marfan’s syndrome
  2. Congenital Horner’s syndrome
  3. Hirschsprung disease
  4. Sturge-Weber syndrome
  5. Normal, autosomal dominant inheritance trait
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11
Q

What are the musculoskeletal manifestations of Marfan’s syndrome?

A
  1. Joint hypermobility
  2. Kyphoscoliosis - arthralgia, back pain
  3. Dural ectasia - back pain
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12
Q

What are the respiratory manifestations of Marfan’s syndrome?

A
  1. Pectus excavatum/carinatum
  2. Restrictive lung disease (from thoracic deformity)
  3. Spontaneous pneumothorax (apical bullae rupture)
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13
Q

What are the causes of dural ectasia?

A
  1. Marfan’s syndrome
  2. Ehlers-Danlos syndrome
  3. Neurofibromatosis type 1
  4. Ankylosing spondylitis
  5. Trauma
  6. Scoliosis
  7. Tumours
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14
Q

How is Marfan’s syndrome diagnosed

A

Ghent criteria
- Family history
- Molecular studies
- 6 organs: skeletal, skin, eye, CVS, pulmonary, dura ectasia

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15
Q

How do you investigate for Marfan’s syndrome?

A
  1. Molecular studies - Fibrillin-1 gene testing
  2. Annual TTE
    - Aortic diameter (normal < 40mm, graft required if > 50mm)
    - MV function (MV prolapse)
    - AR
  3. Ophthalmology examination
  4. XR pelvis and hip - protusio acetabulae (deformity of hip joint by acetabulum invading pelvic cavity with medial displacement of femoral head)
  5. MRI for dural ectasia
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16
Q

How do you manage Marfan’s syndrome?

A
  1. Education and psychological counseling - restricted physical activity
  2. Offer genetic screening to family and offsprings
    - 50% recurrence in offpsring if 1 parent affected
    - Variability of disease
  3. Annual cardiology review, TTE, imaging of aorta - assess dilatation
  4. Beta blockers - slows rate of aortic root dilatation
  5. Infective endocarditis prophylaxis
  6. Yearly eye review
  7. Aortic root replacement before diameter > 5.5cm (or >5cm with family history of dissection)
17
Q

Aortic dissection has higher risk when: (3)
1. Sinus of Valsalva diameter __
2. Rate of dilatation __
3. Family __

A
  1. Sinus of Valsalva >5cm
  2. Rate of dilatation >1.5mm/year
  3. Family history of aortic dissection
18
Q

What are the complications of pregnancy in Marfan’s syndrome?

A
  1. Aortic dissection (safe if aortic root < 40mm)
  2. Early premature abortion
19
Q

What is the prognosis of Marfan’s syndrome?

A

Life expectancy: mid-40s

Death due to CVS complications:
1. Aortic dissection
2. Cardiac failure from AR

MRCP PACES Cardiology (19 decks)

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