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CLASP - Sudden Death > Formative > Flashcards

Flashcards in Formative Deck (9)
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1
Q

In the central dogma, which process is likely to be affected whereby there is a mutation in the first base of an intron?

A

Splicing

The signal as to whether to splice or not is in the first and last 3 bases of an intron

2
Q

What evidence in genetic analysis strongly suggests a pathogenic variant?

A

Deletion of a single base in an exon of a gene - frameshift mutation
If it affects the whole protein; likely to be a pathogenic mutation

3
Q

Why is next generation sequencing better than conventional sequencing as a test to analyse more than 1 gene?

A

Allows more efficient analysis of multiple genes

4
Q

How is the QT interval calculation for heart rate?

A

QT interval / square root R-R interval

5
Q

What cardiac arrhythmia does long QT syndrome predispose to?

A

Torsades De Pointes

6
Q

What is the most important piece of advice to reduce the risk of SIDS?

A

Put baby on back to sleep

7
Q

Describe the ecg features of VT?

A

QRS lasts longer than 120ms

Ectopic ventricular start

8
Q

What is the difference between VT and SVT?

A

VT; widened QRS

SVT; no p waves, normal QRS complex

9
Q

What is the recommended treatment for long QT syndrome?

A

Beta Blockers