Genetics and the CVS

Question 1

Down syndrome

Answer 1

trisomy 21

Question 2

15% of down syndrome patients have

Answer 2

atrio-ventricular defects

Question 3

Cystic hygroma

Answer 3

congenital lymphatic lesion

Question 4

…..% of newborns with CHD have abnormal chromosomes

Answer 4

19

Question 5

Turner syndrome

Answer 5

45, X

Question 6

Turner syndrome symptoms

Answer 6

coarctation of aorta

short status

gonadal dysgenesis

puffy hands

Question 7

Excess nuchal fold (neck webbing) can be a prenatal indicator of?

Answer 7

turner syndrome

Noonan syndrome

CFC syndrome

Leopard syndrome

costello syndrome

Question 8

coarctation of aorta

Answer 8

the narrowing of the aorta

Question 9

45, X

Answer 9

turner syndrome

Question 10

21 trisomy

Answer 10

down syndrome

Question 11

CFC syndrome

Answer 11

cardio-facio cutaneous

Question 12

Noonan Syndrome symptoms

Answer 12

pulmonary stenosis

short stature

neck webbing

cryptorchidism

characteristic face

Question 13

Cardio-facio cutaneous symptoms

Answer 13

Noonan-like symptoms

ectodermal problems

developmental delay

Question 14

leopard syndrome

Answer 14

noonan-like symptoms

deafness

Question 15

costello syndrome symptoms

Answer 15

Noonan-like symtoms

thickened skin folds

warts

cardiomyopathy

Question 16

cardiomyopathy

Answer 16

group of heart dieases

Question 17

22q11 deletion syndrome

CATCH22

Answer 17

cardiac malformation

abnormal facies

thymic hypoplasia

cleft palate

hypoparathyroidism

22q11 deletion

Question 18

22q11 deletion syndromeencompasses what two syndromes?

Answer 18

DiGeorge syndrome

Shprintzen syndrome

Question 19

Williams Syndrome

Answer 19

aortic stenosis

hypercalcemia

5th finger clindactyly

characteristic face

cocktail party manner

Question 20

williams syndrome is due to a

Answer 20

deletion of elastin on chromosome 7

Question 21

List of teratogens

Answer 21

fetal alcohol syndrome

anti epileptic drugs

rubella

maternal diabetes

Question 22

VSD

Answer 22

ventricular septal defect

Question 23

Marfan syndrome

Answer 23

autosomal dominant

multisystem

tall stature

Question 24

Marfan syndrome is the result of

Answer 24

fibrillin 1 gene

chromosome 15q21

Question 25

Diagnosis of Marfan Ghent criteria

Answer 25

Aortic dilatation or dissection ectopic lentis systemic score of less than 7 fibrillin 1 (mutation in the gene) family history (someone in family defo has it)

Question 26

Optimal management of Marfan syndrome

Answer 26

echo beta blockers angiotensin II receptor blockers aortic surgery

Question 27

3 Marfan-like syndromes

Answer 27

Loeys-dietz syndrome familial thoracic aortic aneurysms MASS phenotype

Question 28

romano ward syndrome

Answer 28

the most common form of long QT syndrome

Question 29

romano ward symptoms

Answer 29

syncope 'seizure' sudden death

Question 30

romano ward causes can be

Answer 30

emotion drugs exercise

Question 31

romano ward ECG will show a

Answer 31

prolonged QT interval | depolarisation anomalies

Question 32

Brugada syndrome ECG is

Answer 32

prolonged PR interval usually results in sudden cardiac death

Question 33

Hypertrophic cardiomyopathy prevalence is

Answer 33

1 in 500

Question 34

Hypertrophic cardiomyopathy

Answer 34

myocardium is abnormally thick | can sometimes have abnormal sarcomere