Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

CVS > Congenital heart disease > Flashcards

Congenital heart disease Flashcards

1
Q

What are the five types of congenital heart disease?

A
  • copy number variation
  • single gene variation
  • teratogens
  • uncertain
  • multifactorial
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What section of congenital heart disease do chromosomal and micro deletions fall into ?

A

copy number variations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Name some examples of chromosomal variations

A

monosomies/ trisomies

such as downs syndrome (extra 21 chromosome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Name tow examples of mircodeletion variations

A

22q11 deletion

williams syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

How many live births does downs syndrome affect?

A

1 in 800

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

what percentage of down syndrome individuals have atrio ventricular septal defects ?

A

15%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

As well as atrial ventricular septal defects, name another common problem people with downs syndrome experience

A

duodenal atresia - bowel obstruction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How is downs syndrome screened for in the womb?

A

By nuchal translucency

  • with an ultra sound probe the volume of fluid behind the neck of a foetus is measured.
  • there normally is a small volume of fluid but if there is a lot of volume then this is abnormal.
  • high volume of fluid doesn’t just indicate downs syndrome but other conditions as well
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is cystic hygroma

A

lymphatic lesion anywhere on the body but commonly found behind the neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What percentage of foetuses and new borns with CHD are found to have abnormal chromosomes?

A

foetuses - 19%

new borns - 13%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Name five conditions that are linked to one pathway and name the pathway.

A 
Turners syndrome 
Noonans syndrome
CFC 
Leopards syndrome 
Costello syndrome

MAPK (mitogen activated protein kinase) pathway

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Name two common characteristics associated with these five single gene variation mutations

A

neck webbing

short stature

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What causes neck webbing ?

A

excess nuchal folding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What mutation causes turner syndrome?

A

45 X

missing a sex chromosome (X or Y chromosome)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

name two problems caused by turner syndrome

A
  • aortic coarctation

- gonadal dysgenesis - progressive loss of germ cells on the developing gonads of the embryo

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

state a common feature of turner syndrome in children, not including short stature and neck webbing?

A

puffy hands

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

State two common problems caused from Noonans syndrome

A

pulmonary stenosis

cryptorchidism - absence of one or both teste

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Noonans syndrome,

name one common feature apart from short stature and neck webbing.

A

characteristic face

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is the mutation that causes Noonans syndrome

A

PTPN11 (chromosome 12)

20
Q

In terms of CFC (cardio- facio- cutaneous syndrome),

Name two problems that are caused apart form neck webbing and short stature

A
  • development delay

- ectodermal problems; abnormal hair, nails, skin, sweat glands, digits, cranial- facial structure

21
Q

In terms of leopard syndrome,

state six problems caused apart from neck webbing and short stature.

A
  • Multiple lentigenes (brown spots)
  • Pulmonary stenosis
  • Abnormal genitalia
  • Ocular hypertelorism (spaced apart eyes)
  • Deafness
  • Abnormalities with electrical signals of the heart
22
Q

In terms of Costello syndrome,

two problems that can be caused?

A
  • cardiopathy

- later risk of cancer

23
Q

State two characteristics of Costello syndrome apart from neck webbing and short stature

A
  • thick skin folds

- susceptible to warts

24
Q

Are these five syndromes linked by a common pathway?

A

yes, the different syndromes act at different stages of the pathway

25
Q

What is the common pathway that links these five syndromes?

A

MAPK pathway (mitogen activated protein kinase).

26
Q

Why is it important to test all genes for the different syndromes?

A

they all have similar characteristics so it can be difficult to determine which syndrome it is without genetic testing

27
Q

What are LCR? in terms of micro deletion variations

A

Low copy regions

- susceptible for deletion and translocation

28
Q

Is 22q11 syndrome common?

A

Yes very common but presentations can be very variable

29
Q

State the characteristics of 22q11 deletion

A 
Cardiac malformation 
Abnormal facies 
Thymic hypoplasia 
Cleft palate 
Hypoparathyroidism
Renal 
Psychiatric (22% of 22q11 patients have schizophrenia but only 2% of schizophrenic patients have 22q11 deletion)
30
Q

What are the two conditions that were thought to be separate in the past but are both in fact 22q11 deletion

A

Shprintzen Syndrome

DiGeorge Syndrome

31
Q

What % of 22q11 deletion is familiar ?

A

25%

32
Q

Out of Shprintzen and DiGeorge Syndrome which one is most severe?

A

DiGeorge syndrome

33
Q

In terms of Williams syndrome,

name 3 problems and 2 differences from normal caused from the mutation

A
  • aortic stenosis
  • hypercalaemia
  • 5th finger clinodactyly (5th finger is bent inwards)
  • characteristic face
  • cocktail manner
34
Q

What mutation causes Williams syndrome?

A

deletion of elastin on chromosome 7

35
Q

Name 4 common teratogens that can cause mutations in foetuses.

A
  • fetal alcohol syndrome
  • anti epileptic drugs
  • maternal diabetes mellitus
  • rubella
36
Q

State two problems caused by anti epileptic drugs during pregnancy?

A
  • characteristic face

- development delay

37
Q

Teratogens causing mutations in genes and chromosomes is usually multifactorial
does having a first degree relative with the mutation increase the risk of other relatives also having the mutation?

A

yes

38
Q

Which heart septal defect is associated with folate acid deficiency?

A

Ventricular septal defect

39
Q

what heart disease has increased Ca in the blood and aortic stenosis?

A

williams syndrome

40
Q

what heart disease results in thickened skin folds and patient more susceptible to warts?

A

Costello

41
Q

what heart disease results in gonadal dysgenesis and aortic coarctation?

A

Turner syndrome

42
Q

what heart disease results in deafness, ocular hypertelorism and abnormal heart electrical activity ?

A

Leopard syndrome

43
Q

what heart disease can cause children to have puffy hands?

A

Noonans

44
Q

What heart disease results in development delay and ectoderm problems?

A

CFC syndrome

45
Q

what heart disease results in cleft palate and hypoparathyroidism?

A

22q11 deletion

46
Q

what two congenital heart diseases result in pulmonary stenosis?

A

noonan and leopard syndrome

CVS (20 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions