Brainscape's Knowledge GenomeTM

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


See full index

1ST YEAR SYSTEMS: Cardiovascular > Genetics and cardiovascular disease > Flashcards

Genetics and cardiovascular disease Flashcards

1
Q

Causes of congenital heart disease

A

Copy number variation (CNV) ee.g extra, deletion etc

Single nucleotide variation (SNV)

CNV or SNV

Multifactorial

Teratogens - agent or factor which causes malformation of an embryo.

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

what does congenital heart disease mean

A

heart disease present at birth

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

what is VACTERL association?

A

is a disorder that affects many body systems - it’s not directly linked to genetics more likely to be caused by multiple factors

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

what is the CHARGE syndrome

A

multiple congenital malformation syndrome - patients with it present with a variable combination of defects

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

what is the only congenital heart disease that is multi factorial?

A

isolated heart disease

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

Trisomy 21 causes which disease and what heart problems can arise from this

A

Down syndrome
- 95% maternal non-disjunction (mat age)

15% get atrio-ventricular septal defects

also causes duodenal atresia - increased levels of amniotic fluid during pregnancy

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

what are the risk factors for a child being born with down syndrome?

A

maternal age and nuchal translucency - collection of fluid under the skin at the back of your baby’s neck

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

what is cystic hygroma

A

Abnormal fluid-filled sac that results from a blockage in the lymphatic system. It is most commonly located in the neck or head area, but can be located anywhere in the body. May be found in fetus or newborn.

It is associated with congenital heart disease

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

what congenital heart problems arise from turner syndrome

A

coarctation of aorta

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

neck webbing

A

excess nuchal folds (normal fold of skin at back of fetal neck that occurs during pregnancy)

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

noonan syndrome

A

genetic disorder

PTPN11 gene

causes pulmonary stenosis, neck webbing, unusual facial features, short stature and heart defects.

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

Cardiofaciocutaneous syndrome (CFC)

A

rare genetic condition that typically affects the heart, facial features and skin. Developmental delay

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

Main defect associated with Leapord syndrome

A

deafness

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

Costello syndrome

A

susceptible to warts
cardiomyopathy
Later cancer risk

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

22q11 deletion syndrome cause and key features

A

caused by specific deletion on chromosome 22

key features:- CATCH 22 = Cardiac malformation,
Abnormal facies, Thymic hypoplasia, Cleft palate, Hypoparathyroidism (decreased secretion or activity of parathyroid hormone)

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

psychiatric conditions related with 22q11 deletion

A

22% of adults with this gene alteraton have schizophrenia

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

what 2 names is the 22q11 deletion referred to as

A

Digeorge and Shprintzen

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

Features of DiGeorge Syndrome of 22q11

A

Thymic hypoplasia
Hypoparathyroidism
outflow tract cardiac malformation

usually sporadic

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

Features of Shprintzen syndrome of 22q11

A

cleft palate
outflow tract cardiac malformation
characteristic face autosomal dominant

20
Q

Williams syndrome

A

Aortic stenosis

hypercalcemia

5th finger - clinodactyly - bone in the fifth finger is underdeveloped

Pixie looking face

Cocktail party manner- makes people extremely outgoing and irrepressibly friendly.

21
Q

cause of fetal alcohol syndrome

A

caused by women drinking alcohol during pregnancy

22
Q

key features of fetal alchohol syndrome

A

Intrauterine growth restriction (IUGR) is a condition where a baby’s growth slows or ceases when it is in the uterus.

underdevelopment of head

ADHD

23
Q

Other than fetal alcohol syndrome give other teratogens that can cause problems with pregnancy

A

antiepileptic drugs
rubella
maternal diabetes mellitus

24
Q

what must pregnant women not be deficient in

A

folate acid - it is very important for the development of a healthy foetus

25
Q

difference between congenital heart disease and genetic heart disease

A

congenital - from birth - can be detected in fetus and newborn

genetic - identified later in life - at any stage

26
Q

3 main types of genetic heart disease

A

Cardiovascular connective tissue disease

familial arrhythmias

familial cardiomyopathy

27
Q

example of a connective tissue disease

A

Marfan

Loeys-Dietz

28
Q

Example of familial arrhythmias

A

Long QT

Brugada

29
Q

Example of familial cardiomyopathy

A

HCM - Hypertrophic cardiomyopathy

DCM - Dilated cardiomyopathy

30
Q

What is Marfan syndrome?

A

autosomal dominant
multisystem
disorder that affects connective tissue that supports and anchors organs and other structures in the body

chromosome 15q21

31
Q

characteristics of person with marfan’s disease (4)

A

tall stature

risk of aortic aneurysm and aortic rupture

long fingers, arms and toes

lens subluxation - displacement of lens in eye

32
Q

how do you diagnose marfan’s syndrome?

A

need 2 positive findings

Cardiovascular system:- aortic dilatation/dissection

Eyes:- ectopia lentis - displacement of lens from normal location

Need a systemic score of more or equal to 7
- skeletal, skin, respiratory, dural ectasia, mitral valve prolapse

Family history - unequivocally affected relative (know for definite)

fibrillin 1 gene - mutation that causes syndrome - 70-90% have it with Marfan’s

33
Q

in which age group is it hard to diagnose Marfan’s syndrome

A

in children

34
Q

what is the optimal management of Marfan?

A

at least an annual clinical review

Echocardiogram

Beta blockers
angiotensin II receptor blockers to reduce blood pressure and strain on the aorta

prophyllactic aortic surgery if Sinus of Valsalva exceeds 5.5cm (bit between LV and Aorta

Aortic root diameter needs to be less than 4cm in order to be safe for pregnancy

35
Q

2 types of aortic root surgery for enlarged aorta

A

mechanical valve - lasts longer, need warfarin

valve sparing procedure, patient’s aort is kept but repaired or reimplanted. May need re-operation. No warfarin used

36
Q

when does Marfan syndrome become life threatening

A

if the aorta is affected

37
Q

causes of Marfan syndrome

A

defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.

38
Q

TGF-beta and fibrillin signalling system- what is the link to Marfan’s syndrome?

A

Normally, TGF-beta is active during fetal development but is less active in adults.

Normally functioning fibrillin is like a “traffic cop” for TGF-beta, signaling it to be active when it is needed and stopping or suppressing its activity when it is not needed.

But in people with Marfan syndrome, this signaling system has trouble stopping the activity of TGF-beta.

39
Q

what are TGF-beta and fibrillin

A

fibrillin regulates growth factors

TGF-beta is a growth factor

40
Q

Long QT syndrome

A

15 types of Long QT syndromes

condition which affects repolarisation of the heart after a heartbeat.

presents as abnormal ECG (prolonged QT interval) - can lead to syncope (fainting), seizure or sudden death

41
Q

Each child of an affected parent with Marfan’s has what chance of inheriting the disease?

A

50/50

42
Q

Cardiovascular complications of marfan’s

A

aortic aneurysm

aortic dissection - (small tear in the innermost layer of the aorta’s wall allows blood to squeeze in between the inner and outer layers of the wall)

Valve malformations

43
Q

Next generation sequencing

A

DNA is broken and amplified by PCR

can read many genes at once

44
Q

Cardiac genetics - what types of things do you do/look for

A

genetic testing can improve diagnostic accuracy and refine family management

diagnosis in person being studied - looking for cardiac phenotype, carry out genetic testing

family history
assess relatives
prevention of avoidable morbidity and mortality

45
Q

what is dilated cardiomyopathy

A

a condition in which the heart becomes enlarged and cannot pump blood effectively

46
Q

hypertrophic cardiomyopathy

A

thickening of the heart muscle - harder for it to pump blood

47
Q

what is the GHENT criteria?

A

used to diagnose Marfan’s syndrome
need 2 positive findings

Cardiovascular system
-Aortic dilatation/dissection

Eyes
-Ectopia lentis

Systemic Score ≥ 7

  • Skeletal
  • Skin
  • Respiratory
  • Dural ectasia
  • Mitral valve prolapse
  • Myopia

Family history

  • Unequivocally affected relative
  • Fibrillin 1
  • Mutation known to cause MFS

1ST YEAR SYSTEMS: Cardiovascular (39 decks)

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