Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Cardiovascular > Congenital heart disease > Flashcards

Congenital heart disease Flashcards

(59 cards)

Start Studying
1
Q

Congenital heart disease is the most common form of what?

A

birth defect ( approx 1 per 100)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Congenital heart disease may be?

A

Isolated/Non-syndromic

Syndromic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What factors comprise Isolated/Non-syndromic congenital heart disease?

A

No other malformations
No family history
Probably polygenic/environmental factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What factors comprise Syndromic congenital heart disease?

A

Family history (approx 3-5% of cases but may be different CHD)

Not dysmorphic

No other malformations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

There may be some people with isolated congenital heart disease, with no other abnormalities, with a family history a related or different heart problem.

True or false

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is a syndrome?

A

A group of symptoms which consistently occur together, or a condition characterised by a set of associated symptoms.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are four causes of a syndrome?

A

Chromosomal
Genetic
Unknown/associations
Maternal factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Approximately what percentage of children with a congenital heart disease experience an underlying syndrome?

A

30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What represents a syndromic form of congenital heart disease?

A

Certain types of heart lesion are more frequent

E.g. Truncus Arteriosus. Tetralogy of Fallot

Any other structural abnormalities?

+/- Family history of syndrome?

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the purpose of investigating whether congenital heart disease is syndromic?

A 
Prognosis and options 
Associated problems/abnormalities
Inform clinical management
Recurrence risk
Specific treatments?
Pathophysiological insights
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What types of heart lesion are low risk of syndromic condition?

A

Transposition of the great Arteries

Total anomalous pulmonary venous drainage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What types of heart lesion are high risk of syndromic condition?

A

Tetralogy of Fallot

Ventricular septal defect

Truncus arteriosus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the current Pregnancy Screening in the UK?

A

11-13 weeks – Combined test to give a risk for trisomy 21 , 13 and 18

Nuchal translucency measurement,
PAPP-A and beta HCG levels
combined with maternal age

20 week fetal anomaly scan with 4 chamber view of the heart

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is increased Nuchal Translucency (NT) associated with?

A

Downs Syndrome

Chromosomal abnormalities

Congenital Heart Disease (any)

Other genetic (syndromes)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Chance of adverse outcome increases with increasing nuchal thickness

True or false

A

True

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What forms of genomic variation is found in congenital heart disease?

A

Whole chromosomal abnormalities

Copy number variants

Insertions and duplications

Single nucleotide variants

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What percentage of all children with a congenital heart disease have a chromosomal abnormality?

What do these include?

What percentage deviate from this condition?

A

10.8%

trisomy 21 (62%) 
trisomy 18 (15%) 
trisomy 13 (6.4%)

1.6%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What percentage of children with downs syndrome/ trisomy 21 have a congenital heart disease?

What is the most common heart defect?

What are other heart defects?

A

40-50%

atrioventricular septal defect, or AV canal defects (45%)

ventricular septal defects (35%),
secundum atrial septal defects (8%),
patent ductus arteriosus (7%).
tetralogy of Fallot (4%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

There is an increased risk presented of down syndrome with combined antenatal tests/clues.

What do these include?

What are non genetic tests?

A

Maternal age- INCREASED

serum free β-human chorionic gonadotrophin
(free β-hCG) - INCREASED

Pregnancy associated plasma protein A
(PAPP-A) - DECREASED

NIPT result
Absent nasal bone
Short femurs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is Edwards syndrome caused by?

A

Trisomy 18 defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What type of congenital heart defects are presented in trisomy 18?

and clues on antenatal scan

A

Type of lesion: VSD with Aortic override, unusual AV valves , DORV, …’dysmorphic’ heart

Small baby with small head
Increased risk on combined test
‘strawberry’ shaped skull
Rocker bottom feet
exomphalos
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is Patau’s syndrome caused by?

A

Trisomy 13 defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What are types of congenital heart defects in trisomy 13 and clues on antenatal scan?

A

VSDs, AVSD,

Increased risk on combined test

Polydactyly

Holoprosencephaly

Cleft lip

Small baby with small head

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What are trisomy 13 and 18 increased risk with combined test include?

Study These Flashcards
A

Maternal age INCREASED
serum free β-human chorionic gonadotrophin
(free β-hCG) DECREASED
pregnancy associated plasma protein A
(PAPP-A) DECREASED
Nuchal translucency INCREASED

25
What genetic defect leads to turner syndrome?
Karyotype 45,X0 ( or variations/mosaicism)
26
>90% of women with a baby with turner syndrome miscarry due to what?
Fetal hydrops
27
What are antennal clues of turner syndrome?
Markedly increased nuchal translucency (>5mm) Renal anomalies – horseshoe kidney Pedal oedema of hands & feet ( 3rd trimester) Fetal hydrops
28
What is the prevalence of cardiac malformations in babies with Turner syndrome? What is the most common heart defect? What are other heart defects?
approx 30%. mostly left heart outflow tract obstructions ``` bicuspid aortic valve (16%) coarctation of the aorta (11%). aortic valve disease (3.2%) hypoplastic left heart partial anomalous pulmonary venous drainage had the highest relative risk. ```
29
Trisomies/monosomies are rarely inherited True or false
True
30
Chromosomal abnormalities are not related to maternal age True or false
False Related to maternal age
31
Any other chromosomal imbalance – important to check both parents as will affect recurrence risk True or false
True
32
Approximately 10% of babies congenital heart disease harbour a copy number variant for which the cause is unknown What are the most common?
1q21.1, 7q11.23, 8p23.1, 11q25, 1 5q11.2, and 22q11.2.
33
What test be used to detect small deletions or duplications?
Microarray
34
Congenital heart disease is reported in approximately what percentage of babies with DiGeorge syndrome (22q11 microdeletion)? What are the known cono-truncal’/left outflow tract heart defects?
80%. ``` tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus/common arterial trunk interrupted aortic arch, isolated anomalies of the aortic arch, ventricular septal defect. ```
35
22q11 Deletions were found in:
Approx 1 in 2 of patients (50.0%) with interrupted aortic arch Approx 1 in 3 ( 33%) of patients with common arterial trunk Approx 1 in 6 (15%) of patients with tetralogy of Fallot  
36
What are clinical features of 22q11 microdeletion 1 in 4000 livebirths?
Immunodeficiency Nasal Speech Learning difficulties Short stature Cleft Palate/ Pierre Robin sequence Kidney abnormalities Hypocalcaemia Psychiatric abnormalities (30% develop schizophrenia-like psychoses)
37
What is Williams Syndrome caused by?
Microdeletion 7q11.23
38
How do you test for 22q11 microdeletion?
Can not see on normal chromosome analysis (karyotype) FISH but now superseded by Array CGH Soon…….NIPT.
39
Congenital heart disease is experienced by 80% of babies with Williams Syndrome. What does this include?
75% supravalvular aortic stenosis | 25% supravalvular pulmonary stenosis
40
What are characteristic features of Williams syndrome?
Characteristic Facial features Developmental delay Overfriendly personality Hypercalcaemia (15%)
41
Jin SC, Homsy J, Zaidi S, et al. Contribution of rare inherited and de novo variants in 2871 congenital heart disease probands. Nat Genet 2017 found what?
ONLY 8% of CHD had de novo variants (after excluding chromosomal and CNVs) ~3% of isolated CHD ~28% with both neurodevelopmental and extra-cardiac congenital anomalies rare inherited mutations in 1.8%
42
Autosomal Dominant...
Manifest in HETEROZYGOUS form Multiple generations affected (vertical transmission) Male to male transmission 50% risk to offspring Reduced Penetrance
43
What are Autosomal Dominant conditions associated with Congenital Heart Disease e.g? How may these appear?
Noonan syndrome Holt Oram syndrome Alagille Syndrome May be inherited OR de novo
44
How many Noonan syndrome causative genes are known? What does this lead to?
Several genes >23 so testing in pregnancy can be difficult
45
What are characteristics of Noonan syndrome?
Short stature Learning difficulties Webbed neck ( markedly increased nuchal translucency)
46
What congenital heart defects are noted in Noonan syndrome?
``` Pulmonary stenosis (2nd/3rd trimester) Atrial septal defect Tetralogy of Fallot Hypertrophic Cardiomyopathy (3rd trimester) ```
47
There is clinical overlap between Noonan syndrome and which other rasopathies?
Cardio-facio-cutaneous syndrome Costello syndrome (Neurofibromatosis type 1)
48
What genes are affected in the rasopathies
``` H-RAS K-RAS SOS1 Neurofibromin BRAF RAF-1 MEK 1/2 SHP2 ```
49
What are antennal clues of Noonan syndrome? Risk increases with what? ... Who should be looked at and why?
Markedly increased nuchal translucency often >5mm and persists (Vigneswaran et al., 2017) Type of heart lesion (often in 3rd trimester) Polyhydramnios Pleural effusions/Fetal hydrops/agenesis ductus venosus Hydronephrosis Relative macrocephaly Short femurs Paternal age Parents, they may be affected
50
Who should be looked in relation to Tuberous Sclerosis and why? What are antennal clues of Tuberous Sclerosis?
Look carefully at parents- highly variable (BUT 50% de novo) MULTIPLE cardiac rhabdos- nearly always TS But beware – they may become multiple OR they may look single but on post mortem they are found to be multiple Tubers on brain – 3rd trimester only mainly seen on fetal MRI. Genetic testing is improving so now helpful two genes TSC1 and TSC2 50% risk of seizures/autism/ severe ID
51
What are three features of Holt Oram syndrome?
ASD/AVSD/TOF Radial ray defect +/- family history
52
Differential diagnosis of CHD with radial ray defect
``` Bilateral Holt Oram syndome ( dominant and de novo) TAR syndrome ( recessive) Fanconi anaemia (recessive) VACTERL association ``` Unilateral Trisomy 18 ( sporadic) Fetal valproate syndrome Cornelia de Lange
53
Autosomal Recessive....
Manifest in HOMOZYGOUS/ COMPOUND HETEROZYGOUS form Carriers not affected Usually one generation affected (horizontal transmission) May be consanguinity e.g. cousin marriages
54
What are Autosomal Recessive conditions associated with Congenital Heart Disease?
Ellis Van Creveld syndrome AVSD ASD
55
What are clues of Ellis Van Creveld syndrome?
Short long bones Narrow thorax Polydactyly
56
What are Non-Genetic causes/Tetratogens of congenital heart disease?
Fetal alcohol Maternal diabetes Maternal drugs e.g.anticonvulsants esp. Sodium valproate, IVF/ICSI
57
What are antennal clues of Fetal Alcohol Syndrome?
``` Growth retardation including microcephaly Brain malformations Agenesis of the corpus callosum Limb defects Cardiac abnormalities ``` Maternal history!!
58
In Fetal Valproate Syndrome what risk is there of multiple congenital malformations ?
10.7% dose-dependent increased risk Four fold increased risk of CHD Mainly Septal defects and valvular problems No consistent type of defect
59
What are specific genes for non-syndromic CHD?
NKX2.5 - ASD, atrioventricular block, ventricular septal defect (VSD), Ebstein anomaly, and tetralogy of Fallot (TOF). GATA4, a transcription factor - ASD, VSD, and pulmonary stenosis. TBX1 - TOF, patent ductus arteriosus, and interrupted aortic arch TBX20 - ASD, VSD, valve defects, and impaired chamber growth. MYH6, which codes for an alpha myosin heavy chain (ASD) Notch 1 - valve formation (bicuspid aortic valve and aortic stenosis)

Cardiovascular (19 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions