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Blurting > CLASP > Flashcards

CLASP Flashcards

1
Q

Introns are

A

Non-coding DNA

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2
Q

Exons are

A

Coding DNA

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3
Q

How do you correct QT interval for heart rate

A

SQR(R-R interval)

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4
Q

Genetics of long QT syndrome

Inheritance

A

LQTS1
LQTS2
Can be autosomal dominant or recessive

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5
Q

ECG finding on QT prolongation

A

QT interval >480ms

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6
Q

Mx of QT

A

Atenolol

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7
Q

Contraindications in long QT syndrome

A

Erythromycin/clarithromycin

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8
Q

Complication of long QT syndrome

A

Torsades de pointes

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9
Q

Missense mutation

A

Mutation results in amino acid change

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10
Q

Nonsense mutation

A

Mutation results in formation of stop codon

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11
Q

Frameshift mutation

A

Insertion or deletion of base changes the gene reading frame

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12
Q

Brugada syndrome

Key Triggers

A

Fever
Alcohol
Large meals
Sleep

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13
Q

Genetics of Brugada syndrome

Who more likely

A

SCN5A
Autosomal dominant
Seen more in males

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14
Q

Autosomal dominant inheritance of ARVC

A

Desmosomal genes

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15
Q

ARVC =

A

Arrhythmic right venticular cardiomyopathy

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16
Q

Genetics of ARVC

A

PKP2 gene
Formation of stop codon
Can be autosomal dominant or recessive

17
Q

Autosomal recessive inheritance of ARVC

A

Non-desmosomal genes

18
Q

Pathophysiology of ARVC

A

Fatty replacement of the myocardium

19
Q

Presentation of ARVC (4)

A

Palpitations
Breathlessness
Syncope
Sudden death

20
Q

Avoid in ARVC

A

Vigorous exercise

21
Q

Management of ARVC (2)

A

Sotalol

Catheter ablation

22
Q

ECG findings in Brugada syndrome

A

ST elevation

RBBB

23
Q

Genes affected in HOCM

A

Sarcomere genes

24
Q

Ix findings in HOCM (2)

A

LVH on ECG

Seen on echo

25
Q

Genes affected in dilated cardiomyopathy

A

Sarcomere and desmosomal genes

26
Q

What process do frameshift mutations affect

A

Translation

27
Q

Tests used for pre-symptomatic testing

A

NGS

Can use PCR to look at specific genes

28
Q

High cholesterol disorders

Caution using statins…

A

At higher risk of rhabdomyolysis

29
Q

Presentation of brugada syndrome

A

Acute episode
Pale and unresponsive
Rapid spontaneous recovery

Blurting (6 decks)

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