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Paediatrics > Genetics and cardiovascular disease > Flashcards

Genetics and cardiovascular disease Flashcards

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?

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?

A

Fetal alcohol syndrome

IUGR < 10th centile

Head < 10th centile

Face

ADHD

3-5 units per week

Antiepileptic drugs

Rubella

Maternal Diabetes Mellitus

25
Q

What is VSD associated with?

A

Folate deficiency

Periconceptual multivitamin use and nonsyndromic cardiac defects

MTHFR and CHD

Affected prenatal series 677CT or TT

26
Q

What are genetic cardiac diseases?

A

Cardiovascular Connective Tissue Disease

Marfan

Loeys-Dietz

Ehlers Danlos

Familial Arrhythmias

Long QT

Brugada

CPVT

ARVC

Familial Cardiomyopathy

HCM

DCM

27
Q

What is Loeys-dietz syndrome?

A

Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children

28
Q

What is brugada syndrome?

A

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
Q

What is a Catecholaminergic polymorphic ventricular tachycardia (CPVT)?

A

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
Q

What is ARVC-Arrhythmogenic right ventricular cardiomyopathy?

A

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
Q

What is Marfan syndrome?

A

Autosomal dominant

Multisystem

Connective tissue

Fibrillin 1 gene

Chromosome 15q21

TGFbetaR 2 (and TGFbetaR 1)

chromosome 3p22 (9q33)

32
Q

How do you diagnose marfan?

A

Is it Marfan?

What follow-up?

Prophyllactic treatment?

33
Q

How many positive findings do you need for a diagnosis of Marfan?

A

2

34
Q

What is involved in the diagnosis of marfan?

A

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
Q

What do TGFbeta and fibrillin do?

A

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
Q

What is in the optimal management of Marfan

A

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
Q

Why is a mechanical valve good and bad?

A

Lasts longer but requires warfarin

38
Q

Why is a valve sparing procedure good and bad?

A

May need re-operation

No warfarin

39
Q

What are some marfan like syndromes?

A

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
Q

What is sudden unexpected death?

A

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
Q

What is romano-ward syndrome?

A

Syncope, “seizure”, sudden death

Emotion, exercise, drugs

ECG shows prolonged QTc interval

Repolarisation anomalies (T/U waves)

Paroxysmal Polymorphic VT (Torsade de Pointes)

42
Q

What is jervell lange-neilsen?

A

As above + congenital sensorineural deafness

43
Q

What are some long QT syndromes?

A

Romano-ward syndrome

Jervell lange-neilsen

44
Q

What does the mutation KCNQ1 show on a T-wave pattern on 12 lead ECG and what are the precipitants of arrhythmia?

A

Normal/broad Exercise, particularly swimming

45
Q

What does the mutation KCNH2 show on a T-wave pattern on 12 lead ECG and what are the precipitants of arrhythmia?

A

Notched Noise/arousal e.g telephone ring, alarm clock

46
Q

What does the mutation SCN5A show on a T-wave pattern on 12 lead ECG and what are the precipitants of arrhythmia?

A

Biphasic Sleep/bradycardia

47
Q

What is brugada syndrome?

A

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
Q

Waht is the management of brugada sydnrome?

A

Avoid fever, excess alcohol, overeating (-vagal effects)

ICD

49
Q

What is AVC?

A

Arrhythmogenic ventricular cardiomyopathy

50
Q

What does AVC show?

A

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
Q

What is hypertrophic cardiomyopathy?

A

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
Q

What are modifiers of hypertrophic cardiomyopathy?

A

Lifestyle – e.g. sports

Other genes – e.g. ACE polymorphism

53
Q

What is dilated cardiomyopathy?

A

Echocardiographic features of dilated cardiomyopathy

54
Q

When should mitochondral disorder be considered?

A

Diabetes, deafness, retinitis pigmentosa, skeletal muscle disease, growth retardation or cognitive disorder.

55
Q

What is the family history of dilated cardiomyopathy?

A

Family history of cardiomyopathy or sudden cardiac death compatible with cardiomyopathy should be evident.

56
Q

What is genetic testing of dilated cardiomyopathy?

A

Genetic testing may include Titin, LMNA, SCN5A, dystrophin and the sarcomere genes

57
Q

What is Genetic Cardiology Cardiac Genetics

A

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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