Congenital Heart Disease

Question 1

Name 2 chromosome abnormality diseases which can cause heart disease.

Answer 1

Downs syndrome - trisomy 21

Turners syndrome - 45 X

Question 2

What gene causes Noonans syndrome?

Answer 2

PT PN11 gene

Question 3

Name 4 conditions caused by PT PN11 gene which can causs heart disease.

Answer 3

Noonans syndrome
Cardio facio cutaneous CFC
Leopard syndrome
Costello syndrome

Question 4

What condition causes coarctation of the aorta?

Answer 4

Turners syndrome

Question 5

What conditions cause neck webbing?

Answer 5

Turners and noonan syndrome (plus 3 other conditions like noonan)

Question 6

State the features of noonans syndrome.

Answer 6

Short stature
Neck webbing
Characteristic face
Pulmonary stenosis
Cryptorchidism

Question 7

What are the features of CFC?

Answer 7

CFC- cardio facio cutaneous

Noonan like plus: ectodermal problems and developmental delay

Question 8

What are the features of leopard syndrome?

Answer 8

Noonan like plus multiple lentigenes and deafness

Question 9

Describe the features of costello syndrome.

Answer 9

Noonan like plus:
Thickened skin folds
Suscptible to warts
Cardiomyopathy

Question 10

Name some teratogens which can can congenital heart disease.

Answer 10

Alcohol- fetal alcohol syndrome
Anti-epileptic drugs
Maternal diabetes mellitus
Rubella

Question 11

Describe what the features of 22q11 deletion syndrome are.

Answer 11

Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoparathyroidism
Renal abnormalities
Psychiatric problems

Question 12

Describe 2 severities of the 22q 11 deletion syndrome.

Answer 12

Di george syndrome is a severe version

Sphringzen (velocardilofacial) is a mild version

Question 13

What is williams syndrome due to?

Answer 13

Deletion of elastin on chromosome 7

Question 14

describe features of williams syndrome.

Answer 14

aortic stenosis (supravalsalvar) - mild version of coarctation
hypercalcaemia
5th finger clinodactyly
characteristic face
cocktail part manner

Question 15

name a syndrome which is due to ion channelopathy.

Answer 15

familial arrythmias 
such as :
long QT syndrome
Jervell lange-neilson syndrome
brugadas syndrome

Question 16

what are the signs/symptoms of long QT syndrome/ Romano ward syndrome?

Answer 16

syncope
seizure
sudden death
emotion , exercise and drugs can trigger it

Question 17

describe the features of brugada syndrome.

Answer 17

QT normal
ST elevation V1-3
episodic VT / VF

Question 18

what cardiac malformation can people with downs syndrome have?

Answer 18

15% have atrio-ventricular septal defects

Question 19

what test can be carried out to detect cardiac malformations in a foetus?

Answer 19

nachal translucecy

Question 20

In an ultrasound scan, what is a foetus with Congenital Heart Defect identified with?

Answer 20

cystic hygroma

Question 21

what cardiac malformation does 22q11 deletion syndrome cause?

Answer 21

outflow tract cardiac malformation

Question 22

what is ventricular septal defect (VSD) associated with?

Answer 22

folate deficiency

Question 23

What are the characteristics of marfans syndrome?

Answer 23

tall stature
pectus carnatum (chest comes out at an ridge)
arachnodactyly
ectopia lentis
aortic root dilatation

Question 24

what is the criteria for the diagnosis of marfans syndrome?

Answer 24

2 system characteristics must be positive;
Cardiovascular i.e. aortic dilatation/dissection
Eyes i.e. ectopia lentis
Systemis score (>7) i.e. skeletal, skin, rest, dural ectasia, mitral valve prolapse, myopia
Family history
Fibrillin 1 mutation

Question 25

what test is mandatory for diagnosis of marfans syndrome?

Answer 25

Echocardiography

do MRI and/or pelvic X-ray where diagnosis would change if positive

Question 26

how is Marfans managed?

Answer 26

annual clinical review (ECHO)
beta blockers
angiotensin II receptor blockers
prophylactic aortic surgery is sinus valasalvar exceeds 5.5cm

Question 27

what is advantage and disadvantage of getting a mechanical valve for aortic root surgery for marfans syndrome?

Answer 27

last longer than valve sparing procedure

need life long warfarin

Question 28

what is the advantage and disadvantage of valve sparing aortic root surgery for marfans syndrome?

Answer 28

no need for warfarin

may need re-operation

Question 29

in people with mutation KCNQ1 , what precipitates arrhythmias?

Answer 29

exercise, particularly swimming

Question 30

in people with KCNH2 mutation, what precipitates arrhythmias?

Answer 30

noise/arousal e.g. telephone ringing, alarm clock

Question 31

in people with SCN5A mutation, what does does it show on ECG?

Answer 31

biphasic T wave

Question 32

where is the site of dysfunction in hypertrophic cardiomyopathy? and dilated cardiomyopathy?

Answer 32

HCM = sarcomere
DCM = cytoskeleton

Question 33

In people with SCN5A gene, what precipitates arrhythmias?

Answer 33

Sleep/ bradycardia

Question 34

In people with the KCNQ1 gene, what does it show on ECG?

Answer 34

Normal/broad T-wave

Question 35

In people with the KCNH2 gene, what does it show on ECG?

Answer 35

Notched T-wave

Question 36

What cardiac problem does Marfan cause?

Answer 36

Aortic root dilatation/dissection

Mitral valve prolapse

Question 37

What are the 3 Marfan like syndromes?

Answer 37

Familial thoracic aortic aneurysms
Loeys Dietz syndrome
MASS phenotype

Question 38

What are features of MASS phenotype?

Answer 38

Myopia
Mitral valve prolapse
Mild aortic root dilatation

Question 39

Why would a lumbar MRI be performed on diagnosing Marfan?

Answer 39

To identify if there is Dural ectasia which is a feature on the Ghent criteria for diagnosing Marfans

Question 40

what congenital condition causes aortic stenosis?

Answer 40

Wiliams syndrome

Question 41

what congenital condition causes AV septal defect?

Answer 41

Down syndrome

Question 42

what cardiac problems does marfans cause?

Answer 42

aortic dilatation/dissection

mitral valve prolapse

Question 43

what maternal infection can cause congenital malformations in the child?

Answer 43

Rubella