Genetics and Cardiovascular Disease

Question 1

Causes of congenital heart disease

Answer 1

Copy number variation
Single nucleotide variation
Multifactorial
Teratogens

Question 2

Down syndrome genetic variation

Answer 2

Trisomy 21 non-disjunction

Question 3

Down syndrome results in

Answer 3

Atrio-ventricular septal defects

Duodenal aterisa

Question 4

Down syndrome pregnancy risk identified by

Answer 4

Maternal age

Nuchal translucency at 12 weeks

Question 5

Cystic hygroma can result in

Answer 5

Coronary heart disease

Question 6

Neck webbing

Answer 6

Excess nuchal folds

Question 7

Neck webbing is found in

Answer 7

Turner syndrome
Noonan syndrome
CFC syndrome
Leopard syndrome 
Costello syndrome

Question 8

Neck webbing can be and indicator of

Answer 8

Prenatal cardiac difficulties

Question 9

Turner syndrome genetic variation

Answer 9

Missing X chromosome in females

Question 10

Turner syndrome presentation

Answer 10

Coarctation of the aorta
Short stature
Gonadal dysgenesis
Puffy hands

Question 11

Noonan syndrome genetic variation

Answer 11

PTPN11 gene mutation (chromosome 12, autosomal dominant)

Question 12

Noonan syndrome presentation

Answer 12

Pulmonary stenosis
Short stature
Neck webbing
Characteristic face
Cryptorchidism

Question 13

Cardio-facio-cutaneous (CFC) syndrome rpresentation

Answer 13

Noonan-like features
Ectodermal problems
Developmental delay

Question 14

Leopard syndrome presentation

Answer 14

Noonan-like features
Multiple lentigenes
Deafness

Question 15

Costello syndrome presentation

Answer 15

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

Question 16

22q11 deletion syndrome presentation

Answer 16

Cardiac malformation
Abnormal facies
Thymic hypoplasia
Cleft palate
Hypoparathyroidism

Question 17

22q11 deletion syndrome can result in

Answer 17

Renal and psychotic complications

Question 18

Williams syndrome genetic variation

Answer 18

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

Question 19

Williams syndrome presentation

Answer 19

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

Question 20

Teratogens

Answer 20

Alcohol
Anti-epileptic drugs
Rubella
Maternal diabetes mellitus

Question 21

Multifactorial inheritance

Answer 21

Interaction of many abnormal factors that cause bypass of threshold

Question 22

Ventricular septal defeat is associated with what

Answer 22

Folate deficiency

Question 23

Genetic cardiac diseases

Answer 23

Cardiovascular connective tissue disease
Familial arrhythmias
Familial cardiomyopathy

Question 24

Marfan’s syndrome genetic variation

Answer 24

Fibrillin 1 gene, chromosome 15q21 (autosomal dominant)

Question 25

Marfan's syndrome presentation

Answer 25

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

Question 26

Deficient fibrillin results in excess production of

Answer 26

TGFbeta

Question 27

Management of Marfan

Answer 27

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

Question 28

Aortic root surgery options

Answer 28

Remove and replace who root including mechanical valve | Or put in sleeve to protect aortic root, sparing the valve

Question 29

Romano-Ward syndrome

Answer 29

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

Question 30

Symptoms of Romano-Ward syndrome

Answer 30

Syncope Seizures Sudden death

Question 31

Triggers of arrhythmia in Romano-Ward syndrome

Answer 31

Emotions Drugs Exercise

Question 32

Features of Romano-Ward syndrome

Answer 32

Prolonged QT interval Depolarisation anomalies Paroxysmal polymorphic ventricular tachycardia

Question 33

Brugada syndrome

Answer 33

Electrical activity with heart is abnormal

Question 34

Features of Brugada syndrome

Answer 34

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

Question 35

Brugada syndrome genetic variation

Answer 35

SCN5A loss of function

Question 36

Management of Brugada syndrome

Answer 36

Avoid fever, alcohol and over-eating | Implantable cardioverter-defibrillator (ICD)

Question 37

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Answer 37

Cardiomyopathy affecting the ventricles and causes arrhythmias

Question 38

Features of arrhythmogenic right ventricular cardiomyopathy (ARVC)

Answer 38

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

Question 39

Hypertrophic cardiomyopathy

Answer 39

Portion of heart becomes thickened without an obvious cause

Question 40

Hypertrophic cardiomyopathy is caused by dysfunction of

Answer 40

Sarcomere from abnormality of sarcomere genes

Question 41

Symptoms of hypertrophic cardiomyopathy

Answer 41

``` Syncope Dyspnoea Fatigue Exertional presyncope Palpitations Anginas like chest pain Asymptomatic ```

Question 42

Modifiers of hypertrophic cardiomyopathy

Answer 42

Lifestyle | Other genes

Question 43

Genetic testing for dilated cardiomyopathy

Answer 43

Titin SCN5A Sarcomere genes Dystrophin

Question 44

Largest gene in the genome

Answer 44

Titin

Question 45

Next generation sequencing

Answer 45

Method for sequencing entire genome all at once