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2nd year > Marfan and Ehlers-Danlos syndrome > Flashcards

Marfan and Ehlers-Danlos syndrome Flashcards

1
Q

what is Marfan syndrome?

A

autosomal dominant connective tissue disorder affecting microfibrils and elastin in connective tissue throughout the body
associated with disorders of CVS, MSK system and eyes

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2
Q

what is Ehlers-Danlos syndrome?

A

heterogeneous group of connective tissue disorders with variable inheritance characterised by defective collagen synthesis and processing

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3
Q

pathogenesis of marfan syndrome

A

mutation of fibrillin-1 gene on chromosome 15 causing defective fibrillin
defective connective tissue microfibrils and defective elastin

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4
Q

inheritance of marfan syndrome

A

lots of different FBN1 mutations

autosomal dominant with variable penetrance

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5
Q

Ehlers-Danlos syndrome pathogenesis

A

defects in collagen caused by mutations in certain genes that control synthesis and processing of different types of collagen

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6
Q

inheritance of ehlers-danlos syndrome

A

inheritance patterns, severity and type of collagen affected vary
autosomal dominant or recessive

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7
Q

types of ehlers -danlos syndrome

A

there are 13 different types

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8
Q

most common types of ehlers-danlos syndrome

A

hypermobility
classical
classical-like
vascular

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9
Q

hypermobility ehlers-danlos syndrome

A

unknown genetic defect
unknown affected protein
joint instability - shoulder and patella dislocations

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10
Q

classical ehlers-danlos syndrome

A

COL5A1 and 2
type V collagen affected protein
joint and skin manifestations - generalised joint dislocations and easy bruising

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11
Q

classical-like ehlers-danlos

A

TNXB
Tenascin X
milder than classical type - joint hypermobility with fewer dislocations

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12
Q

Vascular

A

COL3A1
Type III procollagen
cardiovascular manifestations - mitral valve prolapse, aortic aneurysm and organ rupture

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13
Q

what body parts are affected by Marfan syndrome?

A

cardiovascular system
MSK system
skin
eyes

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14
Q

cardiovascular manifestations of marfan syndrome

A

aortic disease
aortic necrosis - weakening of the elastic artery
aortic aneurysm
thoracic or abdominal aortic aneurysm
aortic root dilation - aneurysm of the proximal thoracic aorta
aortic regurgitation
aortic dissection - typically thoracic aorta
mitral valve prolapse
berry aneurysms

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15
Q

berry aneurysms

A

rupture leads to subarachnoid haemorrhage

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16
Q

MSK manifestations of marfan syndrome

A 
tall stature
long extremeties 
joint hypermobiltiy - positive wrist and thumb signs 
high-arched palate 
arachnodactyly 
pectus deformity 
pectus carinatum 
pectus excavatum 
pes planus 
spinal deformities 
vertical overdevelopment of head 
winged scapula
habitual dislocations 
acetabular protrusion
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17
Q

positive thumb sign

A

when thumb is placed in palm and fist clenched thumb extends beyond the ulnar border of the hand

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18
Q

positive wrist sign

A

when clasping wrist and thumb and little finger overlap

19
Q

what is arachnodactyly

A

abnormally long, slender fingers and toes

20
Q

pectus carinatum

A

sternal deformity where the middle and lower portions of the sternum protrude forward - aka sternal hyphosis

21
Q

what is pectus excavatum?

A

sternal deformity where the middle and lower portions of the sternum protrude inward

22
Q

pes planus

A

flat foot

23
Q

spinal deformities in marfan syndrome

A

scoliosis

hyperkyphosis

24
Q

skin manifestations of marfan syndrome

A

hyperextensive skin

striae - stretch marks

25
Q

eye manifestations of marfan syndrome

A 
visual impairment - ectopia lentis and lens subluxation 
severe myopia
retinal detachment 
glaucoma 
early cataract formation
26
Q

ectopia lentis

A

lens dislocation

superior and temporal lens subluxation

27
Q

other manifestations of marfan syndrome

A

increased risk of spontaneous pneumothorax

lumbosarcal dural ectasia

28
Q

types of manifestation in ehlers-danlos syndrome

A 
cardiovascular
MSK 
skin
eyes
other
29
Q

CVS manifestations of ehlers-danlos syndrome

A

heart valve defects - mitral valve prolapse
cystic medial degeneration - aortic dilation, aneurysms or dissection
aneurysms/ dissections of iliac, splenic or renal arteries
berry aneurysms

30
Q

MSK manifestations of ehlers-danlos syndrome

A

joint hypermobility with tendency towards dislocation

skeletal abnormalities

31
Q

skin manifestations of ehlers-danlos syndrome

A 
bruising easily 
skin hyperextensibility 
frequent lacerations of skin 
poor skin healing 
atrophic scars
32
Q

eye manifestations of ehlers-danlos syndrome

A

myopia

retinal detachment and tears

33
Q

other manifestations of ehlers-danlos

A

hernias
organ rupture causing pain and life-threatening internal bleeding
cervical insufficiency - uterine prolapse
dental abnormalities

34
Q

dental abnormalities in ehlers-danlos syndrome

A

hypodontia
delayed eruption
molluscoid pseudotumors

35
Q

diagnosis of marfan syndrome

A 
clinical diagnosis 
genetic testing 
tests to identify specific manifestations 
echo
slit-lamp examination of eye lens 
imaging - x-rays and MRI
36
Q

diagnosis of ehlers-danlos

A 
clinical diagnosis 
genetic testing 
tests to identify specific manifestations 
echo
slit-lamp examination of eyes 
imaging - x-ray, MRI
37
Q

Cystic medial degeneration

A

necrosis of large blood vessels, such as aorta

can lead to aortic dissection

38
Q

Histopathology of cystic medial degeneration

A

loss, thinning, disorganisation and fragmentation of elastic tissue in tunica media
accumulation of mucoid extracellular matrix
loss of smooth muscle nuclei

39
Q

treatment of marfan syndrome

A 
no causal treatment 
treatment of specific symptoms and manifestations 
physical therapy
analgesia
treat scoliosis, aortic dilatation 
regular check ups 
ARBs and beta blockers to lower BP
40
Q

Ehlers-danlos treatment

A 
no causal treatment 
treatment of specific symptoms and manifestations 
physical therapy
analgesia
treat scoliosis, aortic dilatation 
regular check ups 
avoid high contact sports 
surgery performed with caution to avoid excessive bruising and internal bleeding
41
Q

treatment of aortic dilatation

A

beta blockers

aortic root replacement surgery

42
Q

treatment of scoliosis

A

bracing

surgery

43
Q

marfan syndrome prognosis

A

normal life expectancy if diagnosed early and management of complications
careful monitoring required
aortic root disease is most common cause of death - aneurysm, dissection

44
Q

ehlers-danlos syndrome

A

normal life expectancy in all types except vascular, in which it is approx. 50 years

2nd year (48 decks)

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