Inherited cardiac disease

Question 1

What do genes do?

Answer 1

Make proteins

Question 2

What can gene mutations lead to?

Answer 2

abnormalities of the protein for which they code

Question 3

What is cardiomyopathy?

Answer 3

primary heart muscle disease – often genetic

Question 4

What is hypertrophic cardiomyopathy caused by?

Answer 4

sarcomeric protein gene mutations

Question 5

Who does HCM affect?

Answer 5

1 in 500 people

Question 6

What does HCM refer to?

Answer 6

otherwise unexplained primary cardiac hypertrophy

Question 7

What can HCM cause

Answer 7

angina, dyspnoea, palpitations, dizzy spells or syncope
LVOT obstruction

Question 8

What is dilated cardiomyopathy caused by?

Answer 8

cytoskeletal gene mutations

Question 9

What does DCM usually present with?

Answer 9

heart failure symptoms

Question 10

What does DCM cause?

Answer 10

LV/RV or 4 chamber dilatation and dysfunction

Question 11

Arrhythmogenic cardiomyopathy (ARVC/ALVC) is caused by what?

Answer 11

desmosome gene mutations

Question 12

What is the main feature of arrhythmogenic cardiomyopathy?

Answer 12

Arrhythmia

Question 13

What can ventricular tachycardia indicate in young patients?

Answer 13

Sudden death

Question 14

All cardiomyopathies carry what?

Answer 14

An increased risk

Question 15

What is inherited arrhythmia (channelopathy) caused by?

Answer 15

ion channel protein gene mutations

Question 16

What channels do these channel protein gene mutations refer to?

Answer 16

sodium, potassium, calcium channels

Question 17

Examples of channelopathies?

Answer 17

long QT, short QT, Brugada and CPVT

Question 18

What do channelopathies present with?

Answer 18

Structurally normal heart
Recurrent syncope

Question 19

Why is being aware of QT prolonging drugs important?

Answer 19

Kill people with long QT syndrome

Question 20

What is sudden cardiac death in young people usually caused by?

Answer 20

Inherited conditions - most likely cardiomyopathy or ion channelopathy

Question 21

What does Sudden arrhythmic death syndrome (SADS) usually refer to?

Answer 21

normal heart/arrhythmia

Question 22

What is Familial hypercholesterolaemia (FH) ?

Answer 22

inherited abnormality of cholesterol metabolism

Question 23

What does FH lead to?

Answer 23

serious premature coronary and other vascular disease

Question 24

Examples of aortovascular syndromes

Answer 24

Marfan, Loeys-Dietz, vascular Ehler Danlos (EDS)

Question 25

ICCs are usually what type of inheritance?

Answer 25

dominantly inherited – offspring have 50% risk of inheritance

Question 26

What are some life saving treatments?

Answer 26

ICD, beta-blockers, statins, vascular surgery