Inherited Cardiac Conditions Flashcards

1
Q

what is the name of a single gene mutation?

A

monogenic mutation

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2
Q

what type of inheritence are genetic predispositions usually the result of?

A

polygenic inheritance

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3
Q

what is hypertrophic cardiomyopathy?

A

increased thickness of cardiac wall causing cavity space to be lost

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4
Q

why is there a lot of scarring within a heart with hypertrophic cardiomyopathy?

A

because there is not enough blood supply to provide for such a big muscle- ischaemia

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5
Q

why are arrhythmias (particularly re-entry) common in a heart with hypertrophic cardiomyopathy?

A

scarring leads to arrhythmias due to increased automacity of surrounding tissue

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6
Q

when does a hypertrophic cardiomyopathy become apparent?

A

late teens/early twenties

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7
Q

what is dilated cardiomyopathy?

A

heart cavity dilation and thinning of the ventricular walls

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8
Q

what is the early form of dilated cardiomyopathy?

A

left ventricular enlargement

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9
Q

what are the 4 major primary cardiomyopathies?

A
hypertrophic cardiomyopathy (HCM)
dilated cardiomyopathy (DCM)
arrhythmogenic right ventricular cardiomyopathy (ARVC)
restrictive cardiomyopathy (RCM)
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10
Q

what is arrhythmogenic right ventricular cardiomyopathy?

A

heart tissue is progressively replaced by fibrous and fatty tissue

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11
Q

what is restrictive cardiomyopathy?

A

a disorder of the heart muscle in which walls of the ventricles become stiff but not necessarily thickened so resist normal filling with blood, causes reduced EDV

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12
Q

which of the 4 cardiomyopathies has the greatest genetic link?

A

hypertrophic cardiomyopathy

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13
Q

what type of inheritance is hypertrophic cardiomyopathy?

A

autosomal dominant with variable penetrance

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14
Q

what type of inheritance is dilated cardiacmyopathy?

A

commonly autosomal dominant trait

sometimes autosomal recessive

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15
Q

what are the most common secondary syndromes of cardiomyopathies?

A

arrhythmias

heart failure

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16
Q

what is long QT syndrome?

A

a inherited condition where patients have a prolonged QT interval (ie relaxation of the ventricles)

17
Q

what very lethal type of VT do patients with long QT syndrome have a predisposition to?

A

torsades de pointes

18
Q

what occurs just before a torsades de pointes rhythm?

A

pause then an ectopic beat

19
Q

what is the treatment for low risk patients with inherited long QT syndrome?

A

lifestyle + betablockers

20
Q

what is the treatment for high risk patients with inherited long QT syndrome?

A

lifetsyle + ICD

+/- beta blockers

21
Q

what is the cause of brugada syndrome?

A

cardiac sodium channel mutation

22
Q

what is the main cause of sudden cardiac death in the elderly?

A

acquired heart disease