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Genetics and cardiovascular disease Flashcards

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1
Q

What is copy number variation example?

A

Whole chromosome (trisomy, monosomy) part of a chromosome (22q11 deletion, Williams)

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2
Q

What is a single nucleotide variation example?

A

Mendelian disorders

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3
Q

What is a CNV or SNV example?

A

CHARGE association

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4
Q

What is a multifactorial example of congenital heart disease?

A

Isolated CHD

VACTERL association

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5
Q

What are teratogens examples of congenital heart disease?

A

Rubella

Alcohol

Anti-epileptic drugs

Maternal diabetes mellitus

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6
Q

What is down syndrome?

A

Trisomy 21

95% maternal non- disjunction (mat age)

3% translocation

2% mosaic

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7
Q

What are the heart linkage to down syndrome?

A

15% atrio-ventricular septal defects

Duodenal atresia

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8
Q

19% of fetuses with CHD have what?

A

Abnormal chromosomes

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9
Q

13% of newborns with CHD have what?

A

Abnormal chromosomes

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10
Q

What is Turner syndrome?

A

30% mosaic

5% 45,X/46XY

1/3000 LB (20% of SAB)

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11
Q

What is Turner sydrome features?

A

Coarctation of aorta

Short stature

Gonadal dysgenesis

Puffy hands

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12
Q

What is neck webbing?

A

Excess nuchal folds An indicator of prenatal cardiac difficulties

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13
Q

What are examples of syndromes that have neck webbing?

A

Turner syndrome

Noonan syndrome

CFC syndrome

Leopard syndrome

Costello syndrome

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14
Q

What are the presenting features with noonan syndrome?

A

Pulmonary stenosis

Short stature

Neck webbing

Cryptorchidism- one or both of the testes fail to descend from the abdomen into the scrotum

Characteristic face PTPN11 gene (chr 12)

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15
Q

What are features of cardio-facio cutaneous?

A

Noonan-like Plus: Ectodermal problems

Develomental delay

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16
Q

What are features of leopard syndrome?

A

Noonan-like

Plus: Multiple lentigenes

Deafness

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17
Q

What are features of costello syndrome?

A

Noonan-like

Plus thickened skin folds susceptible to warts cardiomyopathy

Later cancer risk

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18
Q

What is 22q11 deletion syndrome features?

A

Cardiac malformation

Abnormal facies

Thymic hypoplasia

Cleft palate

Hypoparathyroidism

22 q11 deletion

Renal

Psychiatric

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19
Q

What is DiGeorge syndrome?

A

Thymic hypoplasia

Hypoparathyroidism

Outflow tract cardiac malformation

Usually sporadic

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20
Q

What is shprintzen syndrome?

A

Cleft palate/palatal insufficiency

Outflow tract cardiac malformation

Characteristic face

Autosomal dominant

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21
Q

What does 22q11 deletion syndrome encompass?

A

DiGeorge and Velocardiofacial (Shprintzen) syndromes

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22
Q

What are LCR regions?

A

Low copy number repeats

Predispose to deletion and translocation (e.g. t11;22)

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23
Q

What are features of Williams syndrome?

Study These Flashcards
A

Aortic stenosis (supravalvar)

Hypercalcemia

5th finger clinodactyly

Characteristic face

Cocktail party manner

Deletion of Elastin on chromosome 7

Deletion of contiguous genes

LIM kinase

24
Q

What are examples teratogens?

Study These Flashcards
A

Fetal alcohol syndrome

IUGR < 10th centile

Head < 10th centile

Face

ADHD

3-5 units per week

Antiepileptic drugs

Rubella

Maternal Diabetes Mellitus

25
What is VSD associated with?
Folate deficiency Periconceptual multivitamin use and nonsyndromic cardiac defects MTHFR and CHD Affected prenatal series 677CT or TT
26
What are genetic cardiac diseases?
Cardiovascular Connective Tissue Disease Marfan Loeys-Dietz Ehlers Danlos Familial Arrhythmias Long QT Brugada CPVT ARVC Familial Cardiomyopathy HCM DCM
27
What is Loeys-dietz syndrome?
Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children
28
What is brugada syndrome?
Genetic disorder in which the electrical activity within the heart is abnormal. It increases the risk of abnormal heart rhythms and sudden cardiac death. Those affected may have episodes of passing out
29
What is a Catecholaminergic polymorphic ventricular tachycardia (CPVT)?
Condition characterized by an abnormal heart rhythm (arrhythmia). As the heart rate increases in response to physical activity or emotional stress, it can trigger an abnormally fast and irregular heartbeat called ventricular tachycardia
30
What is ARVC-Arrhythmogenic right ventricular cardiomyopathy?
Type of cardiomyopathy that affects the ventricles (lower pumping chambers) of the heart and causes arrhythmias (abnormal heart rhythms). It affects the right ventricle, and often also affects the left ventricle
31
What is Marfan syndrome?
Autosomal dominant Multisystem Connective tissue Fibrillin 1 gene Chromosome 15q21 TGFbetaR 2 (and TGFbetaR 1) chromosome 3p22 (9q33)
32
How do you diagnose marfan?
Is it Marfan? What follow-up? Prophyllactic treatment?
33
How many positive findings do you need for a diagnosis of Marfan?
2
34
What is involved in the diagnosis of marfan?
Cardiovascular system Aortic dilatation/dissection Eyes Ectopia lentis Systemic Score ≥ 7 Skeletal Skin Respiratory Mitral valve prolapse Myopia Family history Unequivocally affected relative Fibrillin 1 Mutation known to cause MFS
35
What do TGFbeta and fibrillin do?
Secreted into the extra- cellular matrix and interact in vitro Incorporation of fibrillin into microfibrils results in proteolytic release of TGFbeta TGFbeta signalling affects cell proliferation, differentiation and apoptosis Transgenic mice, deficient in Fibrillin have excess TGFbeta signalling and Marfan features TGFbeta antibodies, or the TGFbeta antagonist Losartan rescue the Marfan phenotype in Fibrillin deficient mice
36
What is in the optimal management of Marfan
At least annual clinical review Echocardiogram Beta blockers Angiotensin II Receptor Blockers Prophyllactic aortic surgery if Sinus of Valsalva exceeds 5.5 cm or 5% growth per year (2 mm in adults) Monitor aortic root frequently in pregnancy if diameter exceeds 4cm
37
Why is a mechanical valve good and bad?
Lasts longer but requires warfarin
38
Why is a valve sparing procedure good and bad?
May need re-operation No warfarin
39
What are some marfan like syndromes?
Loeys-Dietz Syndrome Arterial dissection, tortuosity, bifid uvula/cleft palate, hypertelorism, skin and skeletal findings Familial Thoracic Aortic Aneurysms 11q, 5q BAV/FTAA MASS phenotype Myopia, mitral valve prolapse, mild aortic dilatation (\<2sd), striae, minor skeletal involvement
40
What is sudden unexpected death?
Between 1 year and 40 years 1-5/100,000 patient years 29-35% show no post mortem cause: Assumed to be arrhythmic 1st degree relative studies: 40-53% identifiable inherited heart disease Mayo Clinic Molecular Autopsy series: 35% had ion channelopathy Majority of these are Long QT
41
What is romano-ward syndrome?
Syncope, “seizure”, sudden death Emotion, exercise, drugs ECG shows prolonged QTc interval Repolarisation anomalies (T/U waves) Paroxysmal Polymorphic VT (Torsade de Pointes)
42
What is jervell lange-neilsen?
As above + congenital sensorineural deafness
43
What are some long QT syndromes?
Romano-ward syndrome Jervell lange-neilsen
44
What does the mutation KCNQ1 show on a T-wave pattern on 12 lead ECG and what are the precipitants of arrhythmia?
Normal/broad Exercise, particularly swimming
45
What does the mutation KCNH2 show on a T-wave pattern on 12 lead ECG and what are the precipitants of arrhythmia?
Notched Noise/arousal e.g telephone ring, alarm clock
46
What does the mutation SCN5A show on a T-wave pattern on 12 lead ECG and what are the precipitants of arrhythmia?
Biphasic Sleep/bradycardia
47
What is brugada syndrome?
SCD or VF/VT and Type 1 Brugada ECG Other features: Prolonged PR interval Enlarged LV/poor LV function More common in young men especially of far Eastern origin Ajmaline challenge SCN5A loss of function ~11 other genes are rare causes
48
Waht is the management of brugada sydnrome?
Avoid fever, excess alcohol, overeating (-vagal effects) ICD
49
What is AVC?
Arrhythmogenic ventricular cardiomyopathy
50
What does AVC show?
Echo/MRI (RV dyskinesia) ECG – epsilon waves, T wave inversion SAECG – late potentials VT (LBBB) Histology – fatty infiltration of RV Family history / pathogenic gene variant
51
What is hypertrophic cardiomyopathy?
Prevalence 1/500 Presentation very variable Sudden death more common if diagnosed \< 14 years, or symptomatic Mortality 5.9% per year diagnosed clinically in childhood
52
What are modifiers of hypertrophic cardiomyopathy?
Lifestyle – e.g. sports Other genes – e.g. ACE polymorphism
53
What is dilated cardiomyopathy?
Echocardiographic features of dilated cardiomyopathy
54
When should mitochondral disorder be considered?
Diabetes, deafness, retinitis pigmentosa, skeletal muscle disease, growth retardation or cognitive disorder.
55
What is the family history of dilated cardiomyopathy?
Family history of cardiomyopathy or sudden cardiac death compatible with cardiomyopathy should be evident.
56
What is genetic testing of dilated cardiomyopathy?
Genetic testing may include Titin, LMNA, SCN5A, dystrophin and the sarcomere genes
57
What is Genetic Cardiology Cardiac Genetics
Diagnosis in proband: Cardiac phenotype and Genetic testing Family history Assess relatives Cascade screening of relatives Prevention of avoidable morbidity and mortality

Paediatrics (142 decks)

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