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Cardiovascular System > Genetics and Cardiovascular Disease > Flashcards

Genetics and Cardiovascular Disease Flashcards

1
Q

Causes of congenital heart disease

A

Copy number variation
Single nucleotide variation
Multifactorial
Teratogens

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2
Q

Down syndrome genetic variation

A

Trisomy 21 non-disjunction

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3
Q

Down syndrome results in

A

Atrio-ventricular septal defects

Duodenal aterisa

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4
Q

Down syndrome pregnancy risk identified by

A

Maternal age

Nuchal translucency at 12 weeks

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5
Q

Cystic hygroma can result in

A

Coronary heart disease

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6
Q

Neck webbing

A

Excess nuchal folds

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7
Q

Neck webbing is found in

A 
Turner syndrome
Noonan syndrome
CFC syndrome
Leopard syndrome 
Costello syndrome
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8
Q

Neck webbing can be and indicator of

A

Prenatal cardiac difficulties

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9
Q

Turner syndrome genetic variation

A

Missing X chromosome in females

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10
Q

Turner syndrome presentation

A

Coarctation of the aorta
Short stature
Gonadal dysgenesis
Puffy hands

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11
Q

Noonan syndrome genetic variation

A

PTPN11 gene mutation (chromosome 12, autosomal dominant)

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12
Q

Noonan syndrome presentation

A 
Pulmonary stenosis
Short stature
Neck webbing
Characteristic face
Cryptorchidism
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13
Q

Cardio-facio-cutaneous (CFC) syndrome rpresentation

A

Noonan-like features
Ectodermal problems
Developmental delay

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14
Q

Leopard syndrome presentation

A

Noonan-like features
Multiple lentigenes
Deafness

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15
Q

Costello syndrome presentation

A 
Noonan-like features
Thickened skin folds
Susceptible to warts
Cardiomyopathy
Later cancer risk
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16
Q

22q11 deletion syndrome presentation

A 
Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoparathyroidism
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17
Q

22q11 deletion syndrome can result in

A

Renal and psychotic complications

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18
Q

Williams syndrome genetic variation

A

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

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19
Q

Williams syndrome presentation

A 
Aortic stenosis
Hypercalcemia
5th finger clinodactyly
Characteristic face
Cocktail party manner
20
Q

Teratogens

A

Alcohol
Anti-epileptic drugs
Rubella
Maternal diabetes mellitus

21
Q

Multifactorial inheritance

A

Interaction of many abnormal factors that cause bypass of threshold

22
Q

Ventricular septal defeat is associated with what

A

Folate deficiency

23
Q

Genetic cardiac diseases

A

Cardiovascular connective tissue disease
Familial arrhythmias
Familial cardiomyopathy

24
Q

Marfan’s syndrome genetic variation

A

Fibrillin 1 gene, chromosome 15q21 (autosomal dominant)

25
Q

Marfan’s syndrome presentation

A 
Tall stature
Pectus carinatum
Arachnodactyly
Aortic dilation
Mitral valve prolapse
Ectopic lentis
Disproportionally long arms and legs
26
Q

Deficient fibrillin results in excess production of

A

TGFbeta

27
Q

Management of Marfan

A 
At east annual clinical review
Echocardiogram
Beta blockers
ARB
Prophylactic aortic surgery if sinus or velaslva exceeds
Monitor aortic root in pregnancy
28
Q

Aortic root surgery options

A

Remove and replace who root including mechanical valve

Or put in sleeve to protect aortic root, sparing the valve

29
Q

Romano-Ward syndrome

A

Type of long QT syndrome resulting in a prolonged QT interval in ECG

30
Q

Symptoms of Romano-Ward syndrome

A

Syncope
Seizures
Sudden death

31
Q

Triggers of arrhythmia in Romano-Ward syndrome

A

Emotions
Drugs
Exercise

32
Q

Features of Romano-Ward syndrome

A

Prolonged QT interval
Depolarisation anomalies
Paroxysmal polymorphic ventricular tachycardia

33
Q

Brugada syndrome

A

Electrical activity with heart is abnormal

34
Q

Features of Brugada syndrome

A

Ventricular fibrillation or tachycardia
Prolonged PR interval
Enlarged, poor functioning LV

35
Q

Brugada syndrome genetic variation

A

SCN5A loss of function

36
Q

Management of Brugada syndrome

A

Avoid fever, alcohol and over-eating

Implantable cardioverter-defibrillator (ICD)

37
Q

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

A

Cardiomyopathy affecting the ventricles and causes arrhythmias

38
Q

Features of arrhythmogenic right ventricular cardiomyopathy (ARVC)

A 
ECG - epsilon waves, T wave inversion
SAECG - late potentials
Ventricular tachycardia
Echo/MRI - RV abnormality of movement
Histology - fatty infiltration of RV
39
Q

Hypertrophic cardiomyopathy

A

Portion of heart becomes thickened without an obvious cause

40
Q

Hypertrophic cardiomyopathy is caused by dysfunction of

A

Sarcomere from abnormality of sarcomere genes

41
Q

Symptoms of hypertrophic cardiomyopathy

A 
Syncope
Dyspnoea
Fatigue
Exertional presyncope
Palpitations
Anginas like chest pain
Asymptomatic
42
Q

Modifiers of hypertrophic cardiomyopathy

A

Lifestyle

Other genes

43
Q

Genetic testing for dilated cardiomyopathy

A

Titin
SCN5A
Sarcomere genes
Dystrophin

44
Q

Largest gene in the genome

A

Titin

45
Q

Next generation sequencing

A

Method for sequencing entire genome all at once

Cardiovascular System (27 decks)

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