Congenital and genetic heart disease

Question 1

What are the different types of causes of congenital heart disease?

Answer 1

Chromosomal 
Microdeletions 
Single gene
Teratogens 
VACTERL 
Multifactorial

Question 2

What are the types of chromosomal abnormalities?

Answer 2

Trisomies

Monosomes

Question 3

What are some types of teratogens?

Answer 3

Rubella
Alcohol
Anti-epileptic drugs
Maternal DM

Question 4

What is the genetic mutation in down syndrome?

Answer 4

Trisomy 21

Question 5

What is the rate of down syndrome?

Answer 5

1/800 live births has down syndrome

Question 6

What are some of the effects of Turner syndrome?

Answer 6

Coarctation of the aorta 
Short stature 
Gonadal dysgenesis 
Puffy hands 
Webbed necks 
Gonadal dysgenesis 
Sterility

Question 7

What is the rate of turner syndrome?

Answer 7

1/3000 live births

Question 8

What is the genetic abnormality associated with Turners syndrome?

Answer 8

A female is partly or completely missing a X chromosome

Question 9

What syndromes have characteristic neck webbing?

Answer 9

Turner syndrome 
Noonan syndrome 
CFC syndrome 
Leopard syndrome 
Costello syndrome

Question 10

What are the main symptoms of Noonan syndrome?

Answer 10

Pulmonary stenosis 
Short stature 
Neck webbing 
Cryptorchidism 
Characteristic face

Question 11

What gene is mutated in Noonan syndrome?

Answer 11

PTPN11 gene

Question 12

What are the main symptoms of 22q11 deletion syndrome?

Answer 12

Cardiac malformation 
Abnormal facies 
Thymic hypoplasia 
Cleft palate 
Hypoparathyroidism
Speech delay

Question 13

What two syndromes are encompassed by 22q11 deletion syndrome?

Answer 13

DiGeorge syndrome

Shprintzen syndrome

Question 14

What psychiatric problems is 22q11 deletion syndrome be associated with?

Answer 14

Schizophrenia
Depression
Bipolar affective

Question 15

What are the main symptoms of Williams syndrome?

Answer 15

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

Question 16

What is the mutation that causes williams syndrome?

Answer 16

Deletion of a number of genes and elastin from chromosome 7

Question 17

How many units of alcohol can cause fatal alcohol syndrome?

Answer 17

3-5 units per week

Question 18

What deficiency is VSD associated with?

Answer 18

Folate deficiency

Question 19

What are some genetic cardiovascular connective tissue disease?

Answer 19

Marfans syndrome
Loeys-Dietz
Ehlers Danlos
Familial thoracic aortic aneurysm

Question 20

What genetic diseases are associated with familial arrhythmias?

Answer 20

Long QT syndrome
Brugada syndrome
CPVT
ARVC

Question 21

What genetic diseases are associated with familial cardiomyopathy?

Answer 21

Hypertrophic cardiomyopathy

Dilated cardiomyopathy

Question 22

What genes are mutated in Marfan syndrome?

Answer 22

Fibrillin 1 gene on chromosome 15q21

Question 23

What type of inheritance is Marfan syndrome?

Answer 23

Autosomal dominant

Question 24

What are the symptoms of Marfan Syndrome?

Answer 24

Aortic dilation/dissection 
Ectopia lentis 
Myopia 
Mitral valve prolapse 
Dural ectasia 
Spontaneous pneumothorax 
Abnormal height 
Scoliosis 
Abnormally long limbs 
Thoracic lordosis

Question 25

What is used to diagnose Marfan syndrome and how is it used?

Answer 25

Ghent 2010 criteria - 2 system findings from a list must be positive for the diagnosis to be made

Question 26

What would give a Ghent systemic score of 7 or above?

Answer 26

Cardiovascular affected Eyes affected Fibrillin 1 mutation Family history of MFS

Question 27

What investigation is mandatory in every case of MFS?

Answer 27

Echocardiography

Question 28

What is Marfan Syndrome type 2?

Answer 28

Non-ocular Marfan syndrome

Question 29

What is the management of Marfan syndrome?

Answer 29

``` Annual clinical reviews Echo Beta blockers Angiotensin II receptor blockers Prophylactic aortic surgery when needed ```

Question 30

When should prophylactic surgery be done in Marfan syndrome?

Answer 30

If sinus of valsalva exceeds 5.5cm or 5% growth per year

Question 31

What should be done during pregnancy for Marfan syndrome?

Answer 31

Monitor aortic root frequently if diameter exceeds 4cm

Question 32

What are the different types of long QT syndromes?

Answer 32

Romano-Ward syndrome | Jervell Lange-Neilsen syndrome

Question 33

What are the symptoms of Romano-Ward syndrome?

Answer 33

``` Syncope Seizures Sudden death VF Torsade de Pointes ```

Question 34

What are the symptoms of Jervell Lange-Neilsen?

Answer 34

``` Syncope Seizures Sudden death VF Torsade de Pointes Congenital sensorineural deafness ```

Question 35

what is the treatment for long QT syndrome?

Answer 35

``` Beta blockers Nicorandil Mexilitene Lidocaine ICD ```

Question 36

What are the signs of ARVC?

Answer 36

LBBB pattern Right ventricular cardiomyopathy T wave inversion V2-3 Disordered cell junction

Question 37

What type of inheritance is ARVC?

Answer 37

Autosomal dominant inheritance

Question 38

What is cascade screening?

Answer 38

When a person is diagnosed during screening so their family members are also screened