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Jamie Cardiovascular Pathology > Genetics of Cardiovascular Disease > Flashcards

Genetics of Cardiovascular Disease Flashcards

1
Q

What is trisomy 21?

A

Down syndrome

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2
Q

What is the main cause of Down syndrome?

A

Maternal non-dysjunction (usually due to age)

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3
Q

What 2 conditions can Down syndrome result in?

A

Duodenal atresia

Atrio-ventricular septal defects

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4
Q

What is 45,X?

A

Turner syndrome?

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5
Q

What are 5 indicators of Turner syndrome?

A

Coarctation of aorta
Short stature
Puffy hands
Neck webbing

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6
Q

What does a PTPN11 mutation result in?

A

Noonan syndrome

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7
Q

What are 4 indicators of Noonan syndrome?

A

Pulmonary stenosis
Short stature
Neck webbing
Characteristic face

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8
Q

What are 2 non Noonan-like indicators of CFC (Cardio-Facio-Cutaneous) syndrome?

A

Ectodermal problems

Developmental delay

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9
Q

What is a non Noonan-like indicators of Leopard syndrome?

A

Deafness

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10
Q

What are 2 non Noonan-like indicators of Costello syndrome?

A

Thickened skin folds

Wart susceptibility

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11
Q

What 2 syndromes does 22q11 deletion syndrome encompass?

A

DiGeorge syndrome

Shprintzen syndrome

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12
Q

What are 3 of the indicators of DiGeorge syndrome?

A

Thymic hypoplasia
Hypoparathroidism
Outflow tract cardiac malformation

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13
Q

What are 3 of the indicators of Shprintzen syndrome?

A

Cleft palate
Outflow tract cardiac malformation
Characteristic face

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14
Q

What can the deletion of elastin on chromosome 7 or of contiguous genes?

A

Williams syndrome

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15
Q

What are 4 indicators og Williams disease?

A

Aortic stenosis
Hypercalcaemia
5th finger clinodactyly (curvature)
Characteristic face

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16
Q

What are 4 examples of teratogens in fetal development?

A

Alcohol
Anti-epileptic drugs
Rubella
Maternal diabetes mellitus

17
Q

What do mutations of the fibrillin 1 gene on chromosome 15q21 result in?

A

Marfan syndrome

18
Q

What are indications for Marfan syndrome?

A

Tall stature
Aortic root dilation
Ectopia lenitis (lens displacement)

19
Q

What investigation should be performed?

A

ECHO

20
Q

When should a genetic test be performed in a suspected genetic condition?

A

When a positive result would change the diagnosis

21
Q

What 2 drug types should be given for management of Marfan syndrome?

A

Beta blockers

Angiotensin II receptor blockers (ARBs)

22
Q

If the sinus of valsava exceeds normal growth in Marfan syndrome what procedure should be performed?

A

Aortic surgery

23
Q

What syndrome is associated with a long QT?

A

Romano-Ward syndrome

24
Q

What are 2 indications of Romano-Ward syndrome?

A

Syncope

ECG shows prolonged QT interval

Jamie Cardiovascular Pathology (17 decks)

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