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Cardiovascular System > Genetic and Cardiovascular Disease > Flashcards

Genetic and Cardiovascular Disease Flashcards

1
Q

Name some causes of congenital heart disease

A 
Chromosomal 
Microdeletions 
Single gene 
Teratogens 
Other 
Multifactorial
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2
Q

What abnormalities of chromosomes can cause a congenital heart disease?

A

Trisomies/monosomies

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3
Q

What congenital heart diseases can be caused by microdeletions?

A

22q11 (DiGeorge)

Williams

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4
Q

What congenital heart disease can be caused by single gene abnormalities?

A

Noonan

Marfan

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5
Q

Name 3 teratogens

A

Rubella
Alcohol
Anti-epileptic drugs

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6
Q

What is the chromosomal abnormality in Down Syndrome?

A

Trisomy 21 - extra chromosome due to maternal non-disjunction

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7
Q

What defects are associated with Down syndrome?

A

Atrio-ventricular septal defect (15%)

Duodenal atresia

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8
Q

How can Down Syndrome be detected in the embryo?

A

Ultrasound scan:

Measure the nuchal translucency at 12 weeks (space between back of neck) - larger in Down’s babies

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9
Q

How does the risk of Down syndrome change with increasing maternal age?

A

Increases risk

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10
Q

What is associated with CHD in foetus’?

A

Cystic hydroma (abnormal growths that usually appear on a baby’s neck or head) - associated with chromosomal abnormalities

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11
Q

Why do more foetus’ with CHD have abnormal chromosomes than newborns with CHD?

A

Due to natural loss of pregnancies with CHD- ~50% don’t survive to term

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12
Q

What is the chromosomal abnormality in Turner Syndrome?

A

Incomplete X chromosome (45, X) - therefore they develop as females

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13
Q

What defects are associated with Turner syndrome?

A

Coarctation of aorta
Short stature
Gonadal dysgenesis (loss of germ cells on the developing gonads)
Neck webbing

Puffy hands in newborns

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14
Q

What is mosaic Turner syndrome?

A

45, XY - mixed gonadal dysgenesis (the presence of some male structures as well as a uterus, vagina, and fallopian tubes)

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15
Q

Why does neck webbing arise in CHD?

A

Due to excess nuchal folds

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16
Q

What syndromes does neck webbing occur in?

A 
Turner 
Noonan
CFC
Leopard
Costello
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17
Q

What defects are associated with Noonan syndrome?

A 
Pulmonary stenosis 
Short stature 
Neck webbing 
Cryptorchidism 
Characteristic face
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18
Q

What type of chromosomal mutation causes Turner syndome?

A

Monosomy

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19
Q

What type of chromosomal mutation causes Down syndrome?

A

Trisomy

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20
Q

What is the gene affected in Noonan syndrome?

A

PTPN11 gene

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21
Q

What are the features of cardio-facio-cutaneous (CFC) syndrome?

A

Noonan-like appearance
Ectodermal problems
Developmental delay

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22
Q

What are the features of Leopard syndrome?

A

Noonan-like appearance
Multiple lentigines
Deafness

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23
Q

What are the features of Costello syndrome?

A 
Noonan-like appearance 
Thickened skin folds
Susceptibility to warts
Cardiomyopathy 
Cancer risk in later life
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24
Q

What are the CATCH 22 features of 22q11 deletion syndrome)

A 
C - cardiac malformation
A - abnormal facies
T - thymic hypoplasia
C - cleft palate
H - hypoparathyroidism
22 - 22q11 deletion
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25
Q

What are the other features of 22q11 deletion syndrome?

A

Renal and psychiatric problems
Speech delay
Palatal dysfunction
Very variable disorder

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26
Q

What syndromes are encompassed by 22q11 syndrome?

A

DiGeorge and Shprintzen (velocardiofacial)

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27
Q

What are the features of DiGeorge syndrome?

A

Thymic hypoplasia
Hypoparathyroidism
Outflow tract cardiac malformation
Usually sporadic

More severe and acute manifestation

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28
Q

What are the features of Sphrintzen syndrome?

A

Cleft palate

Outflow tract cardiac malformation

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29
Q

When should genetic testing be done for 22q11 deletion syndrome?

A

If 2 or more clinical features are present

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30
Q

What is the relationship between psychiatric disorders and 22q11 syndrome?

A

22q11 deletion associated with schizophrenia, depression and bipolar affective

31
Q

What type of chromosomal defect causes 22q11?

A

Chromosomal copy variation where there is a loss of part of chromosome 22

32
Q

What are the features of Williams syndrome?

A 
Aortic stenosis 
Hypercalcaemia
5th finger clinodactyly (curving)
Characteristic face
"cocktail party manner" - children will have no speech delays but conversations may not make sense/patient might not understand what you're saying
33
Q

What genetic abnormalities are seen in Williams syndrome?

A

Deletion of elastin on chromosome 7
Deletion of contiguous genes
Deletion of LIM kinase

34
Q

What are the common teratogens?

A

Alcohol - foetal alcohol syndrome
Anti-epileptic drugs
Rubella
Maternal diabetes mellitus if poorly controlled

35
Q

What are the features of foetal anticonvulsant syndrome?

A

Characteristic face
Malformation patterns
Developmental delays
Common and specific features

36
Q

Describe the multifactorial inheritance: threshold model

A

Variety of factors can contribute to risk of developing disease, but that risk increased if the is FH of the condition - increases threshold

37
Q

What defect is VSD associated with?

A

Folate deficiency

38
Q

What are 4 cardiovascular connective tissue diseases caused by genetic abnormalities?

A

Marfan
Loeys-Dietz
Ehlers Danlos
FTAA

39
Q

What are 4 familial arrhythmias caused by genetic abnormalities?

A

Long QT syndrome
Brugada
CPVT
ARVC

40
Q

What are 2 familial cardiomyopathies caused by genetic abnormalities?

A

Hypertrophic cardiomyopathy

Dilated cardiomyopathy

41
Q

What is Marfan syndrome?

A

Autosomal dominated disease of the connective tissue

42
Q

What is the chromosomal abnormality in Marfan syndrome?

A

Mutation in the fibrillin 1 gene on chromosome 15q21

43
Q

What is the criteria used to diagnose Marfan syndrome?

A

Ghent 2010 criteria - 2 system findings must be positive

44
Q

What are the cardiovascular features of Marfan syndrome?

A

Aortic dilatation or dissection

45
Q

What condition of the eyes is caused by Marfan syndrome?

A

Ectopia lentis

46
Q

What features are involved in the systemic score of Marfan syndrome?

A 
Must score >= 7:
Skeletal 
Skin 
Respiratory 
Dural ectasia 
Mitral valve prolapse
47
Q

What features are involved in the FH of Marfan syndrome?

A

Affected relative

48
Q

What are the genetic features of Marfan syndrome?

A

Fibrillin 1 mutation

49
Q

What are the skeletal features of Marfans included in the systemic score?

A 
ULSR and SHR 
Scoliosis/kyphosis
Pectus deformity 
Thumb and wrist 
Foot/ankle 
Reduced elbow extension < 170
50
Q

What are other features of Marfan syndrome which is included in the systemic score?

A

Pneumothorax
Striae
Protusio acetabula
Myopia

51
Q

Is the condition Marfan syndrome if the systemic score is >= 7?

A

Yes

52
Q

What is the condition if the systemic score for Marfan syndrome is >= 5?

A

MASS - Mitral valve prolapse, Aortic root diameter at upper limits of normal for body size, Stretch marks of the skin, and Skeletal conditions similar to Marfan syndrome. It is caused by a mutation in the FBN1 gene

53
Q

What investigations should be used for Marfan syndrome?

A

Echo

MRI and/or pelvic X-ray (when a positive result would change diagnosis)

54
Q

What can an echo show in a patient with Marfan syndrome?

A 
Dural ectasia (92% of patients)
Protusio acetabula
55
Q

When should genetic testing be carried out for suspected Marfan case?

A

When a positive result would change the diagnosis (1 major and 1 minor or 2 major criteria)

56
Q

What is the management of Marfan syndrome?

A

At least annual review
Echo
B blockers
Prophylactic aortic surgery if sinus of vaxsalva > 5.5.cm
Monitor aortic root freq in pregnancy if > 4cm

57
Q

What is Long QT syndrome?

A

Condition which affects repolarisation of the heart after a heartbeat

58
Q

What can Long QT Syndrome cause?

A

Syncope
Seizure (when brain starved of O2)
Sudden death

59
Q

What are exacerbating factors of long QT syndrome?

A

Drugs
Emotion
Exercise

60
Q

What test can diagnose Long QT syndrome?

A

ECG

61
Q

What irregularity of the heart beat can be cause in Long QT syndrome?

A

Proxysmal polymorphic ventricular tachycardia - as heart is taking longer to repolarise, so a new contraction might be initiated before than last one finished

62
Q

In what genes are mutations looked for in genetic testing for LQT?

A

KCNQ1
KCNH2
SCN5A

63
Q

What is the treatment for LQT?

A

Beta blockers, nicrorandil

Mexilitene, lidocaine, ICD

64
Q

What is Brugada syndrome?

A

RBBB
QT normal
ST elevation V1-3

65
Q

How is Bruguda syndrome managed?

A

With rest and sleep

66
Q

What gene is though to be abnormal in bruguda syndrome?

A

SCN5A

67
Q

What is ARVC?

A

Arrhythmogenic right ventricular cardiomyopathy (ARVC) - a rare inherited disease of the heart muscle

68
Q

What are the features on an ECG in ARVC?

A

T wave inversion V2-3 on rest

Effort inducted polymorphic tachycardia (LBBB)

69
Q

What gene abnormalities cause the disordered cell junction of ARVC?

A

Plakophilin 2
Desmoglein 2
Desmoplakin

70
Q

What investigations should be carried out for ARVC after the ECG?

A

Echo to show features of dilated cardiomyopathy

Genetic testing: LMNA SCN5A

71
Q

What is used to diagnose ARVC?

A

History of pre-syncope with tachy or brady or arrhythmia on ECG
FH of cardiomyopathy

72
Q

What is cascade screening?

A

Mechanism for identifying people at risk for a genetic condition by a process of systematic family tracing

73
Q

Why can cardiac phenotypic and genetic testing be useful?

A

Prevention of avoidable morbidity and mortality

74
Q

What is Cryptorchidism?

A

A condition in which one or both of the testes fail to descend from the abdomen into the scrotum.

Cardiovascular System (37 decks)

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