Genetics and Cardiovascular Disease Flashcards

1
Q

What syndromes that you know of are due to microdeletions

A

22q11 deletion syndrome

Williams syndrome

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2
Q

what syndromes that you know of are due to single gene deletions

A

Noonan syndrome

Marfan syndrome

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3
Q

Down syndrome is a trisomy, what chromosome does it effect

A

trisomy of chromosome 21

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4
Q

what is the most common cause leading to trisomy in Down syndrome

A

maternal non-disjunction

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5
Q

what is a common heart defect in people who have Down syndrome

A

atrio-ventricular septal defects

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6
Q

duodenal atresia is a development defect commonly seen in what genetic condition

A

Down syndrome

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7
Q

what is Turner syndrome

A

only effects females, where the female is partially or completely missing a X chromosome

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8
Q

what is the cardiovascular defect that can happen in Turner syndrome

A

contraction of the aorta

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9
Q

What may a female with Turner syndrome look like

A

short stature
neck webbing
puffy hands
early loss of ovarian function

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10
Q

What may an individual with Noonan syndrome look like

A
neck webbing 
short stature 
wide forehead
droopy eyelids
absence of 1 testicle in males
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11
Q

what is the cardiac defect that can be present in Noonan syndrome

A

pulmonary stenosis

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12
Q

what does CATCH 22 stand for in relation to 22q11 deletion syndrome

A
C ardiac malformation
A bnormal facies
T hymic hypoplasia 
C left palate
H ypoparathyroidism
22 q11 deletion
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13
Q

apart from the CATCH22 signs what other problems may a person with 22q11 deletion present with

A

renal problems

psychiatric

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14
Q

what percent of 22q11 syndrome cases are familial

A

only 25%

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15
Q

What is the typical features of a patient with Williams syndrome

A

characteristic face with low nasal bridge
cocktail party manner
5th finger clinodactyly
hypercalcemia

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16
Q

what cardiovascular defects may a person with Williams syndrome present with

A

aortic stenosis (supravalvar)

17
Q

what is the genetic cause of Williams syndrome

A

deletion of elastin on chromosome 7

18
Q

what are known teratogens

A

alcohol
antiepileptic drugs
rubella
maternal diabetes mellitus

19
Q

what are 3 antiepiletic drugs that can cause Fetal Anticonvulsant Syndrome

A

valproate
phenytoin
carbamazepine

20
Q

what are the features a person with Fetal Antiepileptic Syndrome may have

A

characteristic face
malformation patterns
development delay

21
Q

what are 3 connective tissue diseases that commonly effect the heart

A

Marfan syndrome
Loeys-Dietz
Ehlers Danlos

22
Q

what is the chance that a patient with Marfans has inherited it

A

75%

23
Q

Marfans syndrome can be describe as Autosomal (what)

A

autosomal dominant

24
Q

the Ghent syndrome can be used to diagnose what condition

A

Marfans

25
Q

what does pectus mean

A

chest wall deformity- looks like the chest wall has sunken in

26
Q

hypermobile joint is a feature of what condition

A

Marfans

27
Q

In suspected Marfans syndrome what patients would get an ECG

A

every case- mandatory

28
Q

in suspected Marfans Syndrome when would you do an MRI and/or pelvic X-ray

A

where diagnosis would change if positive

29
Q

the Fibrillin 1 gene is mutated in Marfans syndrome, can this be detected in many patients

A

yes 70-90%

30
Q

How would you manage Marfans

A
annual clinical review
echo regularly 
B blockers
ARBs
aortic surgery if needed 
monitor aortic root in pregnancy