Inherited Cardiac Conditions

Question 1

Name three types of ICC

Answer 1

• cardiomyopathy
• channelopathy
• aortopathy

Question 2

What is meant by cardiomyopathy? Give some example

Answer 2

heart muscle abnormality

e.g ARVD, dilated/restrictive/hypertrophic cardiomyopathy

Question 3

What is meant by channelopathy? Give examples

Answer 3

heart rhythm abnormality

e.g long QT syndrome, brugada syndrome

Question 4

What is meant by aortopathy? Give examples

Answer 4

arterial blood vessel abnormality

Question 5

How will ICCs present?

Answer 5

normal appearance, symptoms relate to arrhythmia, heart failure & sudden death

Question 6

What are the symptoms of ICC?

Answer 6

palpitations, fast heart beats, faints, SOB, chest pain

Question 7

How to channelopathies arise?

Answer 7

mutations in genes encoding for cardiac ion channels lead to abnormal cardiac cellular electrophysiology mainly affected depolarisation

Question 8

If a young person presents with AF what is the likely diagnosis?

Answer 8

Long QT syndrome

Question 9

What is congenital long QT syndrome?

Answer 9

prolonged depolarisation leads to longer QT

Question 10

How will long QT look on an ECG?

Answer 10

QT>440ms in males >450ms in females

Question 11

How many subtypes of long QT are there? What are the most common?

Answer 11

13 subtypes
2 most common
- autosomal dominant isolated long QT
- autosomal recessive associated with deafness

Question 12

What is another name for autosomal dominated isolated long QT?

Answer 12

Romano ward syndrome

Question 13

What is another name for autosomal recessive long QT?

Answer 13

Jervell & lange Nielsen syndrome

Question 14

What is the hallmark arrhythmia of long QT syndrome?

Answer 14

polymorphic VT but can be lone AF/heart block

Question 15

What will be the presenting complaint in patients with long QT?

Answer 15

syncope (SCD in children)

Question 16

Name five triggers for long QT syndrome

Answer 16

• exercise
• sudden noise
• medication
• hypokalaemia
• sleep

Question 17

Describe the treatment for long QT syndrome

Answer 17

• beta blockers (nadolol)
• avoid QT prolonging drugs
• correction of electrolyte abnormalities
• avoid triggers

Question 18

What is brugada syndrome?

Answer 18

genetic condition affecting electrical activity of the heart, commonly causing AF

Question 19

What is the main risk of brugada syndrome?

Answer 19

Developing polymorphic VT & VF

Question 20

What will be seen on an ECG of a patient with brugada syndrome?

Answer 20

ST elevation & RBBB in V1-3

Question 21

How is brugada syndrome diagnosed?

Answer 21

provocative testing using drugs that block sodium channels in cardiac cells to produce diagnostic changes on ECG

Question 22

In brugada what triggers VF?

Answer 22

• rest/sleep
• fever
• excessive alcohol
• large meals

Question 23

What is the treatment for brugada syndrome?

Answer 23

• avoid drugs that induce ECG changes
• avoid excessive alcohol/larger meals
• ICD if ventricular arrhythmia

Question 24

In general how are ICCs diagnosed?

Answer 24

clinical & genetic testing

Question 25

What does risk management of ICCs involve?

Answer 25

Lifestyle management & pharmacological/non-pharmacological interventions

Question 26

What is a S-ICD better than a transvenous ICD?

Answer 26

It is placed underneath the skin which prevents it getting fibroses inside veins making it difficult to remove. Less invasive & better in younger patients who will have to live with the condition for many years

Question 27

Who needs screening after a patient has been diagnosed with an ICC?

Answer 27

First and second degree relatives