Genetics and Cardiovascular Disease

Question 1

what is congenital heart disease

Answer 1

a malformation of the heart, aorta or other large blood vessel

Question 2

what is the most frequent form of major birth defect in newborns

Answer 2

congenital heart disease

Question 3

what can cause congenital heart disease

Answer 3

several genetic health conditions inherited from one or both parents

Question 4

what is the most widely known genetic condition that can cause congenital heart disease

Answer 4

Down’s syndrome

Question 5

what percentage of children with Down’s syndrome have congenital heart disease

Answer 5

50%

Question 6

what are almost all congenital heart diseases in children with down’s syndrome due to

Answer 6

a type of valve or artery narrowing problem

Question 7

state 3 genetic conditions associated with congenital heart disease

Answer 7

down’s syndrome
turner syndrome
noonan syndrome

Question 8

what percentage of children with turners syndrome will be born with congenital heart disease

Answer 8

25%

Question 9

what percentage of children with noonan syndrome will be born with congenital heart disease

Answer 9

around 80%

Question 10

what percentage of congenital heart disease in children with noonan syndrome will be pulmonary stenosis

Answer 10

50%

Question 11

what are single gene syndromes

Answer 11

any genetic disorder caused by a change affecting only one gene, it is when a certain gene is known to cause a disease

Question 12

state 4 single gene syndromes

Answer 12

cystic fibrosis
sickle cell disease
fragile x syndrome
muscular dystrophy

Question 13

state 2 chromosomal syndromes

Answer 13

down’s syndrome

turner’s syndrome

Question 14

what are micro-deletion syndromes

Answer 14

syndromes caused by a chromosomal deletion smaller than 5 million base pairs spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping

Question 15

state 4 causes of congenital heart disease

Answer 15

chromosomal
micro deletions
single gene
teratogens

Question 16

what is a cystic hygroma

Answer 16

it is an often congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits

Question 17

what is a webbed neck

Answer 17

it is a congenital skin fold that runs along the sides of the neck down to the shoulders

Question 18

what is the MAPK pathway

Answer 18

it is a chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell

Question 19

what is 22q11 deletion syndrome

Answer 19

it is a disorder caused by the deletion of a small piece of the middle of chromosome 22

Question 20

what is the mnemonic in relation to 22q11 deletion syndrome

Answer 20

CATCH
cardiac malformation
abnormal facies
thymic hypoplasia
cleft plate
hypoparathyroidism

Question 21

what is williams syndrome

Answer 21

it is a developmental disorder that affects many parts of the body

Question 22

what is williams syndrome characterised by

Answer 22

mild to moderate intellectual disability or learning problems
unique personality characteristics
distinctive facial features
heart and blood vessel problems
cardiovascular problems

Question 23

state many types of congenital heart disease

Answer 23

atrial septal defect
ventricular septal defect
pulmonary stenosis
coarctation of the aorta
tetralogy of ballot
transposition of the great arteries

Question 24

what is ventricular septal defect associated with

Answer 24

folate deficiency

Question 25

what is folate deficiency

Answer 25

it is a low level of folic acid and derivatives in the body

Question 26

what is a late finding in folate deficiency

Answer 26

anaemia

Question 27

state 4 cardiac disorders that can be inherited

Answer 27

arrhythmias congenital heart disease cardiomyopathy high blood cholesterol

Question 28

what is Marfan syndrome

Answer 28

it is a genetic disorder that affects the body's connective tissue

Question 29

what is the optimal management of Marfan syndrome

Answer 29

``` at least one annual clinical review ECHO beta blockers angiotensin 2 receptor blockers potentially prophylactic aortic surgery ```

Question 30

what is aortic root surgery

Answer 30

it is a complex surgical procedure to treat a dilation or enlargement of a section of the large blood vessel that carries blood from your heart to your vital organs

Question 31

where is the aortic root located?

Answer 31

near the junction of your aorta and your heart

Question 32

basically describe what aortic root surgery

Answer 32

it is a surgical procedure to treat an aortic aneurysm of a section of the aorta

Question 33

what is Brugada syndrome

Answer 33

it is a condition that causes disruption to the hearts normal rhythm

Question 34

what can Brugada syndrome lead to

Answer 34

irregular heartbeats in the ventricles

Question 35

what is ventricular arrhythmia

Answer 35

it is an abnormality, it is irregular heartbeats in the ventricles

Question 36

what is hypertrophic cardiomyopathy

Answer 36

it is a condition in which a portion of the heart becomes thickened without an obvious cause

Question 37

what does hypertrophic cardiomyopathy result in

Answer 37

the heart being less able to pump blood effectively

Question 38

what are complications of hypertrophic cardiomyopathy

Answer 38

heart failure an irregular heart beat sudden cardiac death

Question 39

what does ARVC stand for

Answer 39

arrhythmogenic right ventricular cardiomyopathy

Question 40

what is arrhythmogenic right ventricular cardiomyopathy

Answer 40

it is a form of heart disease, it is a disorder of the myocardium and usually appears in adulthood

Question 41

what is dilated cardiomyopathy

Answer 41

it is a condition in which the heart's ability to pump blood is decreased because the heart's main pumping chamber, the left ventricle, is enlarged and weakened

Question 42

what does dilated cardiomyopathy prevent

Answer 42

it prevents the heart in some cases from relaxing and filling with blood as it should

Question 43

what is cascade screening

Answer 43

it is a mechanism for identifying people at risk for a genetic condition by a process of systemic family tracing

Question 44

what is cardiovascular genetics

Answer 44

it is the study of the genetic mechanisms of cardiovascular physiology and pathophysiology