genetic CV diseases

Question 1

cause of down syndrome

Answer 1

Trisomy 21

Question 2

down syndrome effects on CV

Answer 2

Atrio-ventricular septal defects

Question 3

cause of turner syndrome

Answer 3

(45,X)

Question 4

cause of 2q11 syndrome

Answer 4

22q11 deletion 
(sporadic (DiGeorge) or autosomal dominant (Shprintzen))
chromosome 22

Question 5

cause of Williams syndrome

Answer 5

Deletion of elastin on chromosome 7

deletion of contiguous genes

Question 6

cause of marfans

Answer 6

Autosomal dominant 
fibrillin 1 gene 
chromosome 15q1 
Excessive TGFbetaR 2/1 signalling molecule 
chromosome 3p22

Question 7

cause of Romano-ward syndrome
Long QT syndrome
Jervell lange-neilsen syndrome (congenital deafness too)

Answer 7

Exercise – broad- KCNQ1
noise/arousal – notched – KCNH2
sleepy – biphasic – SCN5A

screening for; KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2.

Question 8

cause of brugada syndrome

Answer 8

SCN5A

Question 9

cause of ARVD

Answer 9

Autosomal dominant;

PKP2, DSG2, DSP, desmocillin 2, desmoplakin, plakoglobin, TMEM43, TGFB3, RYR2

Question 10

turner syndrome effects on CV

Answer 10

coarctation of aorta

Question 11

22q11 deletion effects on CV

Answer 11

cardiac malformation
interrupted aortic arch
truncus arteriosus
teratology of Fallot

Question 12

william’s syndrome effects on CV

Answer 12

aortic stenosis
hypercalcemia
murmurs for 1st year

Question 13

foetal alcohol syndrome effects on CV

Answer 13

ventricular/septal defect

Question 14

marfans effects on CV

Answer 14

Aortic dilatation/dissection, mitral valve prolapse

Question 15

romano ward syndrome effects on CV

Answer 15

long QT syndrome
Prolonged GT interval
repolarisation anomalies, paroxysmal polymorphic Ventricular tachycardia

Question 16

brugada syndrome effects on CV

Answer 16

Ventricular tachycardia/fibrillations episodically

St elevation on V1-3

Question 17

ARVD effects on CV

Answer 17

Effort induced tachycardia 
cardiomyopathy 
T wave inversion 
Disordered cell junctions 
Palpitations

Question 18

signs of turner syndrome

Answer 18

Short stature, gonadal dysgenesis, puffy hands, neck webbing

Question 19

signs of noonan syndrome

Answer 19

Neck webbing, sort stature, characteristic face, hidden of absence of one or both testes (cryptorchidism)

Question 20

signs of 22q11 deletion syndrome

Answer 20

abnormal facies 
thymic hypoplasia 
Cleft palate
Hypoparathyroidism
renal
Psychiatric – schizophrenic 
speech delay
variable

Question 21

signs of Williams syndrome

Answer 21

5th finger clinodactyly
characteristic face
Cocktail party manner

Question 22

signs of foetal alcohol syndrome

Answer 22

Small eye openings
smooth philtrum
Thin upper lip
small
low intelligence

Question 23

signs of marfans

Answer 23

Ectopia lentis (eye displacement)
near sited
Dural ectasia (ballooning of dural sac) respiratory, skin and skeletal problems ankle, reduced elbow extension, pectus deformity, scoliosis, thumb and wrist.

Question 24

cause of noonan syndrome

Answer 24

PTPN11 mutation autosomal dominant

SOS1

Question 25

effects of noonan syndrome on CV

Answer 25

pulmonary stenosis

Question 26

loeys-dietz syndrome signs

Answer 26

Bifid uvula, hypertelorism (large space between eyes), skin and skeletal, hernias

Question 27

treatment for marfans

Answer 27

ECHO every time, MRI, or pelvic X-ray

treatment; beta blockers angiotensin 2 blockers, prophylactic surgery

Question 28

treatment for romano-ward syndrome

Answer 28

treatment; betablockers for 1/2/5/6

mexillitene, lidocaine, ICD for 3

Question 29

ARVD typically becomes apparent

Answer 29

in adolescence

Question 30

CATCH 22

Answer 30

Cardiac malfunction
Abnormal facies
Thymic hypoplasia 
Cleft palate
Hyporparathyroidism 
22q11 deletion

Question 31

chromosomal causes of congenital heart defects

Answer 31

trisomies/monosomies

Question 32

microdeletion causes of congenital heart defects

Answer 32

22q11, Williams

Question 33

single gene causes of congenital heart defects

Answer 33

noonan/CFC, marfan, SVAS

Question 34

teratogen causes of congenital heart defects

Answer 34

rubella, alcohol, anti-epileptic drugs

Question 35

cystic hygroma are associated with

Answer 35

congenital heart disease

Question 36

what criteria does the diagnosis of marfans follow

Answer 36

GHENT 2010 criteria

Question 37

cascade screeningn

Answer 37

3 generation family history

ECG first degree relatives