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Cardiovascular System > Genetics and Cardiovascular Disease > Flashcards

Genetics and Cardiovascular Disease Flashcards

1
Q

Causes of Congenital Heart Disease (4)

A

Copy Number Variation
Single Nucleotide Variation
Multifactorial
Teratogens

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2
Q

Copy Number Variations Examples

A

 Whole chromosome (trisomy, monosomy)

 Part of a chromosome (22q11 deletion Williams)

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3
Q

Examples of Single Nucleotide Variation

A

Mendelian disorders (Noonan/CFC, Marfan, SVAS, Holt-oram)

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4
Q

Multifactorial Examples (2)

A

 Isolated CHD

 VACTERL association

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5
Q

Examples of Teratogens (4)

A

Rubella
Alcohol
Antiepileptic drugs
Maternal DM

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6
Q

Down syndrom causes ___% of AV septal defects

A

15

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7
Q

What is duodenal Atresia

A
  • congenital absence or complete closure of a portion
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8
Q

Indications of CHD in CNV

A

Nuchal translucency

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9
Q

Cystic Hygroma is

A

• Fluid filled sac that results from a blockage in the lymphatic system

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10
Q

Features of Turner Syndrome (4)

A
  • Coartation of aorta
  • Short stature
  • Gonadal dysgenesis
  • Puffy hands
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11
Q

What diseases are neck webbing found (Nuchal folds) (5)

A 
Turner
Noonan
CFC
Leopard
Costello
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12
Q

features of Noonan Syndrome (5)

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

What mutation causes Noonan Syndrome

A

PTPN11 gene (Chr 12)

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14
Q

Features of CFC (3)

A

Noonan like
Ectodermal problems
Developmental delay

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15
Q

Leopard Syndrome features (3)

A

Noonan-like
Multiple lentigines
Deafness

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16
Q

features of Costello Syndrome (5)

A 
Noonan-like
Thickened skinfolds
Susceptible to warts
Cardiomyopathy
Later cancer risk
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17
Q

Features of 22q11 Deletion Syndrome

A
  • C ardiac malformation
  • A bnormal Facies
  • T hymic hypoplasia
  • C left palate
  • H ypoparathyrodism
  • 22 q11 deletion
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18
Q

What 2 syndrimes does 22q11 deletion syndrome encompass

A

Digeorge

Shprintzen

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19
Q

Features of Williams Syndrome (5)

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

What mutation causes Williams Syndrome (2)

A
  • Deletion of elastin on chromosome 7

* Deletion of contiguous genes

21
Q

What is VSD associated with

A

Folate deficiency

22
Q

Genetic Cardiac Disease

A

Cardiovascular connective tissue
Familial Arrhythmias
Familial Cardiomyopathy

23
Q

An example of a cardiovascular connective tissue disease

A

Marfan

24
Q

Example of Familial Arrhythmias (2)

A

Long QT

Brugda

25
Q

Familial Cardiomyopathy

A

HCM

DCM

26
Q

Features of Marfan (9)

A
  • Tall stature
  • Pectus carinatum
  • Myopia
  • Scoliosis
  • Arachnodactyly
  • Aortic root dilatation
  • Lens subluxation
  • FH- parent dies of aortic aneurysm
  • Systemic score>7
27
Q

When should you do a genetic test in a suspected index case

A

When the positive result would change the diagnosis

28
Q

A deficiency of what leads to Marfans Syndrome

A

TGFB

29
Q

What does TGFB do

A

When fibrillin is incorporated into microfibrils it results in the proteolytic release of TGFB and it is responsible for cell signalling, differentiation and apoptosis

30
Q

Management of Marfans Syndrome

A

• ECHO
• B blockers
• Angiotensin II receptor blockers
• Prophylactic aortic surgery if sinus or Valsalva exceeds 4cm
Monitor aortic root diameter in pregnancy

31
Q

Mechanical valve as a prophylactic surgery (2)

A

Last longer

Warfarin

32
Q

Valve sparing surgery (2)

A

No warfarin

May need re-operation

33
Q

Marfan-like syndromes (3)

A
  • Loeys-Dietz Syndrome
  • Familial Thoracic Aortic Aneurysms
  • MASS phenotype
34
Q

Long QT syndrome example

A

Romano-ward syndrome

35
Q

Features of Romano-ward syndrome

A

Syncope
Seizure
Sudden death

36
Q

What does the ECG show in Long QT syndrome

A

Prolonged QTc interval

Repolarisation anomalies

37
Q

T wave pattern for mutation KCNQ1

A

Normal/broad

38
Q

T wave pattern for mutation KCNH2

A

Notched

39
Q

T wave for mutation SCN5A

A

Biphasic

40
Q

Brugada

A
  • Prolonged PR interval
  • Enlarged LV/ poor LV function
  • More common in young men especially of far eastern origin
  • SCN5A loss of function
41
Q

AVC

A

Impairment of RV

42
Q

Histology of AVRC

A

Fatty infiltration of RV

43
Q

ECG of AVC

A

Epsilon waves

T wave inversion

44
Q

Hypertrophic Cardiomyopathy Sarcomere Disease MYH7

A

Beta cardiac myson

45
Q

Hypertrophic Cardiomyopathy Sarcomere Disease MYBPC3

A

Myosin binding protein

46
Q

Hypertrophic Cardiomyopathy Sarcomere Disease TNNT2

A

Cardiac troponin T

47
Q

Hypertrophic Cardiomyopathy Sarcomere Disease TNNI3

A

Cardiac troponin

Cardiovascular System (42 decks)

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