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Cardiovascular > Congenital and genetic heart disease > Flashcards

Congenital and genetic heart disease Flashcards

1
Q

What are the different types of causes of congenital heart disease?

A 
Chromosomal 
Microdeletions 
Single gene
Teratogens 
VACTERL 
Multifactorial
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2
Q

What are the types of chromosomal abnormalities?

A

Trisomies

Monosomes

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3
Q

What are some types of teratogens?

A

Rubella
Alcohol
Anti-epileptic drugs
Maternal DM

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4
Q

What is the genetic mutation in down syndrome?

A

Trisomy 21

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5
Q

What is the rate of down syndrome?

A

1/800 live births has down syndrome

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6
Q

What are some of the effects of Turner syndrome?

A 
Coarctation of the aorta 
Short stature 
Gonadal dysgenesis 
Puffy hands 
Webbed necks 
Gonadal dysgenesis 
Sterility
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7
Q

What is the rate of turner syndrome?

A

1/3000 live births

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8
Q

What is the genetic abnormality associated with Turners syndrome?

A

A female is partly or completely missing a X chromosome

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9
Q

What syndromes have characteristic neck webbing?

A 
Turner syndrome 
Noonan syndrome 
CFC syndrome 
Leopard syndrome 
Costello syndrome
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10
Q

What are the main symptoms of Noonan syndrome?

A 
Pulmonary stenosis 
Short stature 
Neck webbing 
Cryptorchidism 
Characteristic face
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11
Q

What gene is mutated in Noonan syndrome?

A

PTPN11 gene

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12
Q

What are the main symptoms of 22q11 deletion syndrome?

A 
Cardiac malformation 
Abnormal facies 
Thymic hypoplasia 
Cleft palate 
Hypoparathyroidism
Speech delay
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13
Q

What two syndromes are encompassed by 22q11 deletion syndrome?

A

DiGeorge syndrome

Shprintzen syndrome

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14
Q

What psychiatric problems is 22q11 deletion syndrome be associated with?

A

Schizophrenia
Depression
Bipolar affective

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15
Q

What are the main symptoms of Williams syndrome?

A 
Aortic stenosis 
Hypercalcaemia 
5th finger clinodactyly 
Characteristic face 
Cocktail party manner
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16
Q

What is the mutation that causes williams syndrome?

A

Deletion of a number of genes and elastin from chromosome 7

17
Q

How many units of alcohol can cause fatal alcohol syndrome?

A

3-5 units per week

18
Q

What deficiency is VSD associated with?

A

Folate deficiency

19
Q

What are some genetic cardiovascular connective tissue disease?

A

Marfans syndrome
Loeys-Dietz
Ehlers Danlos
Familial thoracic aortic aneurysm

20
Q

What genetic diseases are associated with familial arrhythmias?

A

Long QT syndrome
Brugada syndrome
CPVT
ARVC

21
Q

What genetic diseases are associated with familial cardiomyopathy?

A

Hypertrophic cardiomyopathy

Dilated cardiomyopathy

22
Q

What genes are mutated in Marfan syndrome?

A

Fibrillin 1 gene on chromosome 15q21

23
Q

What type of inheritance is Marfan syndrome?

A

Autosomal dominant

24
Q

What are the symptoms of Marfan Syndrome?

A 
Aortic dilation/dissection 
Ectopia lentis 
Myopia 
Mitral valve prolapse 
Dural ectasia 
Spontaneous pneumothorax 
Abnormal height 
Scoliosis 
Abnormally long limbs 
Thoracic lordosis
25
Q

What is used to diagnose Marfan syndrome and how is it used?

A

Ghent 2010 criteria - 2 system findings from a list must be positive for the diagnosis to be made

26
Q

What would give a Ghent systemic score of 7 or above?

A

Cardiovascular affected
Eyes affected
Fibrillin 1 mutation
Family history of MFS

27
Q

What investigation is mandatory in every case of MFS?

A

Echocardiography

28
Q

What is Marfan Syndrome type 2?

A

Non-ocular Marfan syndrome

29
Q

What is the management of Marfan syndrome?

A 
Annual clinical reviews 
Echo 
Beta blockers 
Angiotensin II receptor blockers 
Prophylactic aortic surgery when needed
30
Q

When should prophylactic surgery be done in Marfan syndrome?

A

If sinus of valsalva exceeds 5.5cm or 5% growth per year

31
Q

What should be done during pregnancy for Marfan syndrome?

A

Monitor aortic root frequently if diameter exceeds 4cm

32
Q

What are the different types of long QT syndromes?

A

Romano-Ward syndrome

Jervell Lange-Neilsen syndrome

33
Q

What are the symptoms of Romano-Ward syndrome?

A 
Syncope 
Seizures 
Sudden death 
VF
Torsade de Pointes
34
Q

What are the symptoms of Jervell Lange-Neilsen?

A 
Syncope 
Seizures 
Sudden death 
VF
Torsade de Pointes 
Congenital sensorineural deafness
35
Q

what is the treatment for long QT syndrome?

A 
Beta blockers 
Nicorandil 
Mexilitene 
Lidocaine 
ICD
36
Q

What are the signs of ARVC?

A

LBBB pattern
Right ventricular cardiomyopathy
T wave inversion V2-3
Disordered cell junction

37
Q

What type of inheritance is ARVC?

A

Autosomal dominant inheritance

38
Q

What is cascade screening?

A

When a person is diagnosed during screening so their family members are also screened

Cardiovascular (34 decks)

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