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CVS Pathology > Genetics of Cardiovascular Disease > Flashcards

Genetics of Cardiovascular Disease Flashcards

1
Q

What is the chromosomal abnormality of Down syndrome?

A

Trisomy 21

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2
Q

Cardiac abnormalities associated with down syndrome

A

AVSD

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3
Q

Other congenital abnormalities with Down syndrome

A

AVSD

Duodenal atresia

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4
Q

What do down syndrome babies have more of?

A

Nuchal translucency

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5
Q

What % of foetuses with CHD have abnormal chromosomes?

A

13%

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6
Q

What is the genetic abnormality of turners syndrome?

A

45X

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7
Q

What CHD can turner syndrome result in?

A

Coarctation of aorta

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8
Q

What abnormalities are associated with turner syndrome?

A

Coarctation of aorta
Short stature
Gonadal dysgenesis
Lymphoedema of hands and feet

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9
Q

What gender gets turners syndrome?

A

Girls only

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10
Q

What is there a risk of in turners syndrome?

A

Gonadal cancer

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11
Q

What can neck webbing possibly be an indicator of?

A

Prenatal cardiac difficulties

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12
Q

What causes neck webbing?

A

Excess nuchal folds

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13
Q

Syndromes associated with neck webbing

A 
Turners
Noonans
CFC
Leopard
Costello
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14
Q

Abnormalities of noonan syndrome

A 
Pulmonary stenosis
Short stature
Neck webbing
Cryptorchidism 
Characteristic face
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15
Q

What is cryptorchidism?

A

One or both of the testes fail to descend from the abdomen into the scrotum

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16
Q

What is the genetics of noonan syndrome?

A 
PTPN11 gene (chromosome 12)
Autosomal dominant
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17
Q

What gender gets noonan syndrome?

A

Both boys and girls

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18
Q

What does CFC stand for?

A

Cardio-facio-cutaneous

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19
Q

What abnormalities are found in CFC?

A

Noonan like
Ectodermal problems
Developmental delay

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20
Q

What gender gets CFC?

A

Boys and girls

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21
Q

What abnormalities are found leopard syndrome?

A

Noonan like
Multiple lentigines (small pigmented spots on skin)
Deafness

22
Q

Presentation of Costello syndrome

A 
Noonan syndrome
Thickened skin folds
Susceptibility to warts
CARDIOMYOPATHY
Late cancer risk
23
Q

What is the pneumonic to remember the presentation of 22q11 deletion syndrome?

A

CATCH 22

  • cardiac malformation
  • abnormal facies
  • thymic dysplasia
  • cleft palate
  • 22q11 deletion (renal, psychiatric (schizophrenia), floppy overfolded ears, small mouth, bulging tip of nose, speech delay, very variable)
24
Q

What syndromes does 22q11 deletion syndrome emcompass?

A

Both DiGeorge syndrome and Velocardiofacial (Shpritzen) syndrome

25
Q

Features of DiGeorge syndrome

A

Thymic hypoplasia
Hypoparathyroidism
Outflow tract cardiac malformation
Sporadic

26
Q

Features of shprintzen syndrome

A

Cleft palate/palatal insufficiency
Outflow tract cardiac malformation
Characteristic face
AD

27
Q

Cardiac manifestations of Williams syndrome

A

Aortic stenosis (supravalvular)

28
Q

Abnormalities of Williams syndrome

A 
Aortic stenosis
Hypercalcaemia
5th finger clinodactyly
Characteristic face 
Cocktail party manner
29
Q

Genetics of Williams syndrome

A

Deletion of elastin on chromosome 7
Deletion of contiguous genes
LIM kinase

30
Q

Inheritance of marfans syndrome

A

AD

31
Q

Genetics of marfans syndrome

A

Fibrillin 1 gene

Chromosome 15q21

32
Q

Presentation of marfans syndrome

A 
Tall stature
Long fingers
AORITC DISSECTION
Ectopia lentis 
Scoliosis
33
Q

What is ectopia lentis?

A

Lens of the eye slips out of place and can cause visual problems

34
Q

Another name for long QT syndrome

A

Romano-Ward syndrome

35
Q

Features of long QT syndrome

A 
Syncope
Seizure 
Sudden death 
ECG - prolonged QTc interval 
Repolarisation anomalies (T/U waves)
Paroxysmal polymorphic VT
36
Q

Features of brugada syndrome

A 
RBBB
QTc normal 
ST elevation V1-V3
Episodic VT/VF
Rest and sleep 
M > F
37
Q

Presentation of hypertrophic cardiomyopathy

A

Sudden death

38
Q

Who is sudden death of hypertrophic cardiomyopathy common in?

A

< 14 y/o

Symptomatic

39
Q

Features of dilated cardiomyopathy

A

History or presyncope or syncope
Tachy or brady arrhythmia
ECG investigation

40
Q

What genetic tests should be carried out with dilated cardiomyopathy?

A

LMNA
SCN5A
Dystrophin
Sacromere genes

41
Q

Causes of congenital heart disease

A 
Chromosomal 
Microdeletions
Single gene
Teratogens
Viral 
Isolated (multifactorial)
42
Q

Features of teratogens

A 
IUGR < 10th centile
Head < 10th centile 
SN hearing loss
Long filtrium 
Increased space between eyes 
Visuomotor difficulties
Fine motor difficulties
ADHD
43
Q

Examples of teratogens

A

Alcohol
Antiepileptic drugs
Rubella
Maternal DM

44
Q

What is VSD associated with in the mother?

A

Folate deficiency

45
Q

Clinical diagnosis of marfans syndrome

A 
2 system findings must be +ve
CVS - aortic dilatation/dissection 
Eyes - ectopia lentis 
Systemic score >7
- skeletal 
- skin 
- resp 
- dural ectasia
- MVP
- myopia 
FH 
Fibrillin 1 mutation
46
Q

What are the systemic scores for skeletal features of marfans?

A 
ULSR and SHR
Scoliosis/kyphosis 
Pectus deformity
Thumb and wrists 
Foot / ankle
Reduced elbow extension < 170
47
Q

What are some other systemic score features for marfans?

A 
Myopia > 3 dioptres
MVP
Pneumothorax
Dura
Striae
Face
Protrusio Acetabuli
48
Q

What additional tests should be done in marfans?

A

ECHO mandatory !

MRI/Pelvic X ray if need

49
Q

What % of marfans patients have the fibrillin 1 mutation?

A

70-90%

50
Q

What is cascade screening?

A

3 generation FH
ECGs for 1st degree relatives
2nd degree special cases

51
Q

Management of marfans disease

A 
Annual clinical review 
ECHO
Beta blockers
ARBs
Prophylactic aortic surgery if sinus Valsalva exceeds 5.5cm
52
Q

What heart sounds are classically associated with a VSD?

A 
Pansystolic murmur
Lower left sternal border 
Heaving apex beat 
Split S2
Sings of pulmonary HTN
RHF

CVS Pathology (19 decks)

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