Cardiomyopathies

Question 1

Inheritance pattern of hypertrophic cardiomyopathy

Answer 1

Autosomal dominant

Question 2

Hypertrophic cardiomyopathy gene mutation

Answer 2

Affects sacromere proteins - esp myosin light chains

Question 3

Dilated cardiomyopathy gene mutation

Answer 3

Affects cytoskeleton/myocyte proteins -> contractile/conduction disease

Question 4

Presentation of dilated cardiomyopathy

Answer 4

Dilated ventricles with systolic dysfunction (preserved wall thickness)

Question 5

Arrhythmogenic right ventricular cardiomyopathy gene mutation

Answer 5

Affects desmosomal proteins - esp ryanodine receptors (Ca)

Question 6

What happens to heart in arrhythmogenic RVC?

Answer 6

Myocytes are replaced by fatty/fibrofatty cells

Leading to partial/complete RV dilation

Question 7

What can arrhythmogenic RVC lead to?

Answer 7

VT/VF and sudden death

Question 8

Associations with restrictive cardiomyopathy

Answer 8

Sarcoidosis, amyloidosis and endocardial fibrosis

Question 9

What happens to heart in restrictive cardiomyopathy?

Answer 9

Decreased volume in both ventricles with bi-atrial enlargement –>
Left outflow obstruction due to asymmetrical septal hypertrophy

Question 10

What can hypertrophic cardiomyopathy lead to?

Answer 10

Sudden cardiac death

Question 11

S/S of hypertrophic cardiomyopathy

Answer 11

Can be asymptotic, chest pain, dyspnoea, syncope, double apex pulse, S4, jerky carotid pulse, systolic murmur

Question 12

Investigations of hypertrophic cardiomyopathy

Answer 12

ECG - LV hypertrophy, Q waves inferolaterally

ECHO - asymmetry

Question 13

What would you see on an ECG of someone with hypertrophic cardiomyopathy

Answer 13

LV hypertrophy, Q waves inferolaterally

Question 14

Treatment of hypertrophic cardiomyopathy

Answer 14

1. Treat symptoms to prevent SCD
2. Amiodarone in lower risk pts
3. B-blockers +/- verapamil
4. ICD in higher risk pts

Question 15

S/S of dilated cardiomyopathy

Answer 15

arrhythmia, HF, thromboembolism

Question 16

Investigations into dilated cardiomyopathy

Answer 16

CXR - cardiac enlargement
ECHO - dilated chambers
ECG - arrhythmia
Angiography - exclude CHD

Question 17

Treatment of dilated cardiomyopathy

Answer 17

1. Manage HF
2. Cardiac resynchronisation
3. ICD (in high risk)

Question 18

S/S of arrhythmogenic RVC

Answer 18

Asympt, syncope, vent arrhythmias, later on RHF

Question 19

Investigations of arrhythmogenic RVC

Answer 19

ECG

ECHO

Question 20

What would an ECG of arrhythmogenic RVC look like?

Answer 20

Normal/ T-wave inversion, epsilon waves after QRS, RBBB

Question 21

What would an ECHO of arrhythmogenic RVC look like?

Answer 21

Normal/ aneurysm in later/severe stages

Question 22

Treatment of arrhythmogenic RVC

Answer 22

1. B-blockers if non-life-threatening

2. Amiodarone or solatol for symptomatic arrhythmias

Question 23

S/S of restrictive cardiomyopathy

Answer 23

HF symptoms, hepatic enlargement, ascites

Question 24

Investigations of restrictive cardiomyopathy

Answer 24

CXR - pul venous congestion
ECG - low voltage QRS
ECHO - impaired ventricular filling