Inherited cardiac conditions

Question 1

Jerky pulse
Forceful or double apical impulse
4th heart sound
Mid systole murmur exaggerated by Valsalva manoeuvre (30-40% patients)

Answer 1

Hypertrophic cardiomyopathy

Pathological effect:

• LVOT obstruction
• Mitral regurgitation

Question 2

Rapid x and y descent of the JVP

Loud 3rd and 4th heart sound

Answer 2

Restrictive cardiomopathy

Question 3

myocardial cell hypertrophy increased length without increased diameter
large bizarrely shaped nuclei
myocyte atrophy and myofilament loss
increased interstitial fibrosis

Answer 3

Dilated cardiomyopathy

Question 4

Increased systolic and diastolic volume with low Ejection Fraction

Incidence increases with age and men are more commonly affected

It may be idiopathic, familial/genetic, viral, autoimmune or immune-mediated associated with a viral infection.

Answer 4

Dilated cardiomyopathy

Question 5

Heart muscle is replaced by fibrous and fatty tissue.

Predominately affects the right ventricle.

Answer 5

Arrhythmogenic right ventricular cardiomyopathy

Question 6

T-wave inversion beyond lead V1. Evidence of right ventricular electrical disturbance is manifest by a QRS duration in V1 > or = 110 msec and a longer QRS duration in the right then left precordial leads.

Evidence of slow fractionated conduction is present as epsilon waves. The signal averaged ECG may show exceedingly long and low late potentials.

Answer 6

ARVC

Question 7

Genetics of HCM?

Answer 7

Autosomal dominant

Question 8

Epsilon waves

Answer 8

ARVC

Question 9

Definition of familial DCM?

Answer 9

The definition of familial dilated cardiomyopathy (DCM) is clinically based on the presence, in the same family, of at least two members proven as affected.
Familial DCM is commonly inherited as autosomal dominant trait; less frequently it is autosomal recessive, X-linked.

Question 10

Genetics of AVRC

Answer 10

In most families, dominant with variable penetrance

Question 11

What defines QT prolongation?

Answer 11

QTc >440ms in males , >460ms in females

Question 12

Brugada syndrome

Answer 12

Cardiac sodium channel mutation
Risk of polymorphic VT, VF
Atrial fibrillation common
ST elevation and RBBB in V1-V3
ECG findings may be intermittent, change over time
Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel)

Question 13

ST elevation and RBBB in V1-V3

Answer 13

Brugada syndrome

Question 14

How would you establish ECG changes of Brugada syndrome?

Answer 14

Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel)