Congenital Heart Disease and Genetic Heart Disease

Question 1

what are the causes for congenital heart disease?

Answer 1

> chromosomal
> micro-deletions
> single gene
> teratogens
> multifactorial

Question 2

name some chromosomal causes of heart disease

Answer 2

trisomies

monosomies

Question 3

name some micro-deletions that cause congenital heart disease

Answer 3

22q11 deletion

Williams

Question 4

what are the genetic mutations that cause downs syndrome?

Answer 4

trisomy 21:
> maternal non-disjunction
> translocation
> mosaic

Question 5

what congenital defect is associated with downs syndrome?

Answer 5

atrio-ventricular defects

Question 6

what is the genetic abnormality in turners syndrome?

Answer 6

45,X

Question 7

what are the effects of turners syndrome?

Answer 7

> coarctation of the aorta
short stature
gonadal dysgenesis
puffy hands

Question 8

what is neck webbing?

Answer 8

excess nuchal folds, a congenital skin fold that runs down the side of the neck to the shoulders.

Question 9

what syndromes can cause neck webbing?

Answer 9

> turner syndrome
> noonan syndrome
> CFC syndrome
> leopard syndrome
> Costello syndrome

Question 10

what does noonan syndrome cause?

Answer 10

> pulmonary stenosis
> short stature
> neck webbing
> cryptorchidism
> characteristic face

Question 11

describe cardio-facio-cutaneous syndrome

Answer 11

it is noonan like with ectodermal problems and developmental delay

Question 12

describe leopard syndrome?

Answer 12

it is noonan like with multiple lentigenes and deafness

Question 13

describe Costello syndrome

Answer 13

it is noonan like with thickened skin folds, susceptibility to warts, cardiomyopathy and a later cancer risk.

Question 14

what is the MAPK pathway?

Answer 14

mitrogen activated protein kinase pathway

Question 15

what is the acronym for 22q11 deletion syndrome?

Answer 15

CATCH22:
Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate Hypoparathyroidism
22q11 deletion
(plus renal and psychiatric)

Question 16

name two syndromes that are encompassed by 22q11 deletion syndrome

Answer 16

DiGeorge syndrome and shprintzen syndrome

Question 17

what psychiatric problems are associated with 22q11 deletion syndrome?

Answer 17

> schizophrenic patients
depression
bipolar effective

Question 18

what causes Williams syndrome?

Answer 18

> deletion of elastin on chromosome 7
deletion of contagious genes
LIM kinase

Question 19

what does Williams syndrome cause?

Answer 19

> aortic stenosis (supravalvar)
> hypercalcemia
> 5th finger clinodactyly
> characteristic face
> cocktail party manner

Question 20

give some examples of teratogens

Answer 20

> alcohol
antiepileptic drugs
rubella
maternal diabetes mellitus

Question 21

what are the effects of foetal anticonvulsant syndromes?

Answer 21

> characteristic faces
malformation patterns
developmental delay

Question 22

name three foetal anticonvulsant syndromes

Answer 22

> valproate
phenytoin
carbamazepine

Question 23

is marfan syndrome autosomal dominant or recessive?

Answer 23

autosomal dominant

Question 24

what does marfan syndrome affect?

Answer 24

it is a multisystem syndrome and connective tissue

Question 25

what chromosome is affected in marfan syndrome?

Answer 25

chromosome 15q21

Question 26

what gene is affected in marfan syndrome?

Answer 26

fibrillin 1 gene

Question 27

how do you clinically diagnose marfans syndrome?

Answer 27

> cardiovascular system: aortic dilatation/dissection
eyes: ectopia lentis
family history: one unequivocally affected relative

Question 28

what is the systemic score to diagnose marfan?

Answer 28

more than or equal to 7

Question 29

in marfans syndrome what test is mandatory?

Answer 29

echocardiography

Question 30

when should a genetic test be carried out in a suspected index case?

Answer 30

when a positive result would change the diagnosis

Question 31

name 4 marfan like syndromes

Answer 31

> loeys-dietz syndrome
marfan syndrome type 2
familial thoracic aortic aneurysm
MASS phenotype

Question 32

what drugs are given to manage marfan syndrome?

Answer 32

> beta blockers

> angiotensin 2 receptor blockers

Question 33

when would prophylactic aortic surgery be used to manage someone with marfan syndrome?

Answer 33

if the sinus Valsalva exceeds 5.5cm or has a 5% growth per year

Question 34

how often should people with marfans syndrome have a clinical review?

Answer 34

annually

Question 35

what are the difference between mechanical valve aortic root surgery and valve sparing aortic root surgery?

Answer 35

the mechanical valve surgery may last longer but life long warfarin is needed. valve sparing procedure may need reoperation but no warfarin is needed.

Question 36

what does an ECG show in Romano-ward syndrome?

Answer 36

a prolonged QTc interval

Question 37

what are the affects of romano-ward syndrome?

Answer 37

> syncope
seizure
sudden death

Question 38

why is genotyping useful?

Answer 38

it gives prognosis, lifestyle and treatment

Question 39

what would you expect to see on an ECG from someone with Brugada syndrome?

Answer 39

ST elevation

Question 40

describe the appearance of cardiac muscle in hypertrophic cardiomyopathy

Answer 40

there is myofibrillar disarray

Question 41

how do you manage family if cardiac genetic abnormality is detected in an individual?

Answer 41

do a family history, assess the relatives and do a cascade screening of relatives

Question 42

what is cascade screening?

Answer 42

> do a third generation family history
arrange ECGs for first degree relatives
screen for genetic mutations in first degree relatives