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Cardiovascular System > Genetics and Cardiovascular Disease > Flashcards

Genetics and Cardiovascular Disease Flashcards

(47 cards)

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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)

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

What mutation causes Williams Syndrome (2)

Study These Flashcards
A
  • Deletion of elastin on chromosome 7

* Deletion of contiguous genes

21
Q

What is VSD associated with

Study These Flashcards
A

Folate deficiency

22
Q

Genetic Cardiac Disease

Study These Flashcards
A

Cardiovascular connective tissue
Familial Arrhythmias
Familial Cardiomyopathy

23
Q

An example of a cardiovascular connective tissue disease

24
Q

Example of Familial Arrhythmias (2)

Study These Flashcards
A

Long QT

Brugda

25
Familial Cardiomyopathy
HCM | DCM
26
Features of Marfan (9)
* Tall stature * Pectus carinatum * Myopia * Scoliosis * Arachnodactyly * Aortic root dilatation * Lens subluxation * FH- parent dies of aortic aneurysm * Systemic score>7
27
When should you do a genetic test in a suspected index case
When the positive result would change the diagnosis
28
A deficiency of what leads to Marfans Syndrome
TGFB
29
What does TGFB do
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
Management of Marfans Syndrome
• ECHO • B blockers • Angiotensin II receptor blockers • Prophylactic aortic surgery if sinus or Valsalva exceeds 4cm Monitor aortic root diameter in pregnancy
31
Mechanical valve as a prophylactic surgery (2)
Last longer | Warfarin
32
Valve sparing surgery (2)
No warfarin | May need re-operation
33
Marfan-like syndromes (3)
* Loeys-Dietz Syndrome * Familial Thoracic Aortic Aneurysms * MASS phenotype
34
Long QT syndrome example
Romano-ward syndrome
35
Features of Romano-ward syndrome
Syncope Seizure Sudden death
36
What does the ECG show in Long QT syndrome
Prolonged QTc interval | Repolarisation anomalies
37
T wave pattern for mutation KCNQ1
Normal/broad
38
T wave pattern for mutation KCNH2
Notched
39
T wave for mutation SCN5A
Biphasic
40
Brugada
* Prolonged PR interval * Enlarged LV/ poor LV function * More common in young men especially of far eastern origin * SCN5A loss of function
41
AVC
Impairment of RV
42
Histology of AVRC
Fatty infiltration of RV
43
ECG of AVC
Epsilon waves | T wave inversion
44
Hypertrophic Cardiomyopathy Sarcomere Disease MYH7
Beta cardiac myson
45
Hypertrophic Cardiomyopathy Sarcomere Disease MYBPC3
Myosin binding protein
46
Hypertrophic Cardiomyopathy Sarcomere Disease TNNT2
Cardiac troponin T
47
Hypertrophic Cardiomyopathy Sarcomere Disease TNNI3
Cardiac troponin

Cardiovascular System (42 decks)

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