Genetics of Cardiovascular Disease Flashcards Preview

Jamie Cardiovascular Pathology > Genetics of Cardiovascular Disease > Flashcards

Flashcards in Genetics of Cardiovascular Disease Deck (24):
1

What is trisomy 21?

Down syndrome

2

What is the main cause of Down syndrome?

Maternal non-dysjunction (usually due to age)

3

What 2 conditions can Down syndrome result in?

Duodenal atresia
Atrio-ventricular septal defects

4

What is 45,X?

Turner syndrome?

5

What are 5 indicators of Turner syndrome?

Coarctation of aorta
Short stature
Puffy hands
Neck webbing

6

What does a PTPN11 mutation result in?

Noonan syndrome

7

What are 4 indicators of Noonan syndrome?

Pulmonary stenosis
Short stature
Neck webbing
Characteristic face

8

What are 2 non Noonan-like indicators of CFC (Cardio-Facio-Cutaneous) syndrome?

Ectodermal problems
Developmental delay

9

What is a non Noonan-like indicators of Leopard syndrome?

Deafness

10

What are 2 non Noonan-like indicators of Costello syndrome?

Thickened skin folds
Wart susceptibility

11

What 2 syndromes does 22q11 deletion syndrome encompass?

DiGeorge syndrome
Shprintzen syndrome

12

What are 3 of the indicators of DiGeorge syndrome?

Thymic hypoplasia
Hypoparathroidism
Outflow tract cardiac malformation

13

What are 3 of the indicators of Shprintzen syndrome?

Cleft palate
Outflow tract cardiac malformation
Characteristic face

14

What can the deletion of elastin on chromosome 7 or of contiguous genes?

Williams syndrome

15

What are 4 indicators og Williams disease?

Aortic stenosis
Hypercalcaemia
5th finger clinodactyly (curvature)
Characteristic face

16

What are 4 examples of teratogens in fetal development?

Alcohol
Anti-epileptic drugs
Rubella
Maternal diabetes mellitus

17

What do mutations of the fibrillin 1 gene on chromosome 15q21 result in?

Marfan syndrome

18

What are indications for Marfan syndrome?

Tall stature
Aortic root dilation
Ectopia lenitis (lens displacement)

19

What investigation should be performed?

ECHO

20

When should a genetic test be performed in a suspected genetic condition?

When a positive result would change the diagnosis

21

What 2 drug types should be given for management of Marfan syndrome?

Beta blockers
Angiotensin II receptor blockers (ARBs)

22

If the sinus of valsava exceeds normal growth in Marfan syndrome what procedure should be performed?

Aortic surgery

23

What syndrome is associated with a long QT?

Romano-Ward syndrome

24

What are 2 indications of Romano-Ward syndrome?

Syncope
ECG shows prolonged QT interval