Brainscape's Knowledge GenomeTM

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


See full index

Cardiovascular system > Genetics and Cardiovascular Disease > Flashcards

Genetics and Cardiovascular Disease Flashcards

1
Q

what is congenital heart disease

A

a malformation of the heart, aorta or other large blood vessel

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

what is the most frequent form of major birth defect in newborns

A

congenital heart disease

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

what can cause congenital heart disease

A

several genetic health conditions inherited from one or both parents

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

what is the most widely known genetic condition that can cause congenital heart disease

A

Down’s syndrome

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

what percentage of children with Down’s syndrome have congenital heart disease

A

50%

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

what are almost all congenital heart diseases in children with down’s syndrome due to

A

a type of valve or artery narrowing problem

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

state 3 genetic conditions associated with congenital heart disease

A

down’s syndrome
turner syndrome
noonan syndrome

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

what percentage of children with turners syndrome will be born with congenital heart disease

A

25%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

what percentage of children with noonan syndrome will be born with congenital heart disease

A

around 80%

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

what percentage of congenital heart disease in children with noonan syndrome will be pulmonary stenosis

A

50%

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

what are single gene syndromes

A

any genetic disorder caused by a change affecting only one gene, it is when a certain gene is known to cause a disease

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

state 4 single gene syndromes

A

cystic fibrosis
sickle cell disease
fragile x syndrome
muscular dystrophy

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

state 2 chromosomal syndromes

A

down’s syndrome

turner’s syndrome

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

what are micro-deletion syndromes

A

syndromes caused by a chromosomal deletion smaller than 5 million base pairs spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping

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

state 4 causes of congenital heart disease

A

chromosomal
micro deletions
single gene
teratogens

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

what is a cystic hygroma

A

it is an often congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits

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

what is a webbed neck

A

it is a congenital skin fold that runs along the sides of the neck down to the shoulders

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

what is the MAPK pathway

A

it is a chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell

19
Q

what is 22q11 deletion syndrome

A

it is a disorder caused by the deletion of a small piece of the middle of chromosome 22

20
Q

what is the mnemonic in relation to 22q11 deletion syndrome

A 
CATCH
cardiac malformation
abnormal facies
thymic hypoplasia
cleft plate
hypoparathyroidism
21
Q

what is williams syndrome

A

it is a developmental disorder that affects many parts of the body

22
Q

what is williams syndrome characterised by

A 
mild to moderate intellectual disability or learning problems
unique personality characteristics
distinctive facial features
heart and blood vessel problems
cardiovascular problems
23
Q

state many types of congenital heart disease

A 
atrial septal defect
ventricular septal defect
pulmonary stenosis
coarctation of the aorta
tetralogy of ballot
transposition of the great arteries
24
Q

what is ventricular septal defect associated with

A

folate deficiency

25
Q

what is folate deficiency

A

it is a low level of folic acid and derivatives in the body

26
Q

what is a late finding in folate deficiency

A

anaemia

27
Q

state 4 cardiac disorders that can be inherited

A

arrhythmias
congenital heart disease
cardiomyopathy
high blood cholesterol

28
Q

what is Marfan syndrome

A

it is a genetic disorder that affects the body’s connective tissue

29
Q

what is the optimal management of Marfan syndrome

A 
at least one annual clinical review
ECHO
beta blockers
angiotensin 2 receptor blockers
potentially prophylactic aortic surgery
30
Q

what is aortic root surgery

A

it is a complex surgical procedure to treat a dilation or enlargement of a section of the large blood vessel that carries blood from your heart to your vital organs

31
Q

where is the aortic root located?

A

near the junction of your aorta and your heart

32
Q

basically describe what aortic root surgery

A

it is a surgical procedure to treat an aortic aneurysm of a section of the aorta

33
Q

what is Brugada syndrome

A

it is a condition that causes disruption to the hearts normal rhythm

34
Q

what can Brugada syndrome lead to

A

irregular heartbeats in the ventricles

35
Q

what is ventricular arrhythmia

A

it is an abnormality, it is irregular heartbeats in the ventricles

36
Q

what is hypertrophic cardiomyopathy

A

it is a condition in which a portion of the heart becomes thickened without an obvious cause

37
Q

what does hypertrophic cardiomyopathy result in

A

the heart being less able to pump blood effectively

38
Q

what are complications of hypertrophic cardiomyopathy

A

heart failure
an irregular heart beat
sudden cardiac death

39
Q

what does ARVC stand for

A

arrhythmogenic right ventricular cardiomyopathy

40
Q

what is arrhythmogenic right ventricular cardiomyopathy

A

it is a form of heart disease, it is a disorder of the myocardium and usually appears in adulthood

41
Q

what is dilated cardiomyopathy

A

it is a condition in which the heart’s ability to pump blood is decreased because the heart’s main pumping chamber, the left ventricle, is enlarged and weakened

42
Q

what does dilated cardiomyopathy prevent

A

it prevents the heart in some cases from relaxing and filling with blood as it should

43
Q

what is cascade screening

A

it is a mechanism for identifying people at risk for a genetic condition by a process of systemic family tracing

44
Q

what is cardiovascular genetics

A

it is the study of the genetic mechanisms of cardiovascular physiology and pathophysiology

Cardiovascular system (34 decks)

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