Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Cardiovascular (Annie) > Inherited cardiac conditions > Flashcards

Inherited cardiac conditions Flashcards

1
Q

what causes an inherited cardiac condition (ICC)?

A

= misprints in blue print of the DNA that has been passed on from both parents to children

  • DNA is ‘blue print’ used by body to build tissue & carry out living processes
  • misprints in blue print are rare but can have big results in way body or organs work
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

what are the 3 main types of inherited cardiac conditions?

A

1) cardiomyopathy
2) channel-myopathy
3) aortopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what is cardiomyopathy?

- give examples.

A

= heart muscle abnormality

  • ARVC (arrhythmogenic right ventricular cardiomyopathy)
  • hypertrophic cardiomyopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

what is channelopathy?

- give examples.

A

= heart rhythm abnormality

  • Long QT syndrome
  • brugada syndromeme
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

what is aortopathy?

- give examples?

A

= arterial blood vessel abnormality

  • Marfan’s syndrome
  • Loeys Dietz syndrome
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

how do inherited cardiac conditions present?

A
  • normal appearances

- no features of the disease (reduced expressivity, carriers)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

what symptoms would inherited cardiac conditions have?

A

Symptoms related to;

  • arrhythmia: AF, ventricular ectopy, VT
  • heart failure
  • sudden death
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

name some channelopathies, a type of arrhythmogenic inherited cardiac conditions?

A
  • congenital long QT syndrome
  • brugada syndrome
  • catecholaminergic polymorphic ventricular tachycardia (CPVT)
  • short QT syndrome
  • progressive familial conduction disease
    = familial AF
    = familial WPW
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

name some cardiomyopathies, a type of arrhythmogenic inherited cardiac conditions?

A
  • hypertrophic cardiomyopathy
  • arrhythmogenic right ventricular cardiomyopathy (ARVC)
  • dilated cardiomyopathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

what causes channelopathies?

A

= mutations in genes that encode the cardiac ion channels.

- abnormal cardiac cellular electrophysiology

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

what do channelopathies mainly affect?

A

re-polarisation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Yes or No.

does channelopathies cause changes on the ECG?

A

= yes they cause abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Yes or No.

is the normal cardiac structure and function the same?

A

= yes its the same

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

in people with channelopathhies, what are people likely to develop?

A
  • arrhythmias both atrial and ventricular
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

what is the cardiac action potential?

A

= summation of all ion currents across cell membrane

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

what does the surface ECG represent?

A

= summation of all APs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what does congenital long QT syndrome (cLQTS) do to an ECG?

A

= QTc interval prolongation
> 440ms in males
> 450ms in females

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

how many subtypes are there of cLQTS?

A

13 subtypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

describe the two autosomal types of congenital long QT syndrome?

A

1) autosmal dominant
= isolated LQT
- romano-ward syndrome

2) autosomal recessive
= associated with deafness
- Jervell & lange-neilsen syndrome

20
Q

in cLQTS what is the hallmark arrhythmia?

i.e. what does excessive QT prolongation lead to?

A

= polymorphic VT - ventricular tachycardia (torsades de pointes VT)

21
Q

how are TdP syncope triggered?

A
  • exercise
  • sudden auditory stimuli
  • sleep
  • QT prolongation states
    = medication
    = hypokalaemia
22
Q

what is the primary presenting complaint in cLQTS?

A
  • syncope

- Sudden Cardiac Death in children and young adults

23
Q

what is the mechanism for QT prolongation?

A

1) Less re-polarising current prolongs APD
- e.g. K+ moving extracellular

2) more depolarisation prolonging APD
- e.g. Na+ & Ca+ moving intracellular

24
Q

how would you manage cLQTS?

A

1) beta blockers
- nadolol (most effective at preventing arrhymias)
= BB’s they DONT SHORTEN QT

2) avoid QT prolonging drugs
3) correction of electrolyte abnormalities

4) avoidance of triggers
- strenuous swimming
- breath holding
- loud sudden noises

25
Q

in brugada syndrome, what is there a risk of?

A

= risk of polymorphic VT or VF

26
Q

what is common in brugada syndrome?

A

atrial fibrillation

27
Q

what changes are seen on a ECG in brugada syndrome?

A

= ST elevation
= RBBB in V1-V3

  • ECG findings may be intermittent and change over time
28
Q

when might diagnostic ECG changes only be seen?

A

with provocative testing with felcainide or ajmaline (drugs that block the cardiac sodium channel)

29
Q

describe the genes involved in brugada syndrome?

A
  • 12 associated gened
    = cardiac sodium channel
    = calcium channel
30
Q

is the brugada syndrome autosomal dominant or recessive?

A

dominant
= adults
8x males

31
Q

in brugada syndrome, what are VF triggers?

A
  • usually rest or sleep
  • fever
  • excessive alcohol, large meals
  • genotypes & FH of SCD doesn’t indicate worse prognosis
32
Q

how would you manage brugada syndrome?

A
  • avoids drugs that may induce brugada changes on ECG
  • avoid excessive alcohol and large meals
  • prompt treatment of fever with anti-pyretic medications
  • ICD only if ventricular arrhythmia (Secondary prevention) or spontaneous changes on ECG and syncope
33
Q

what 4 drugs should you avoid in brugada syndrome?

A
  • anti-arrhythmic drugs
  • psychotropics
  • analgesics
  • anaesthetics
34
Q

what are 3 most common cardiomyopathies?

A

1) hypertrophic cardiomyopathy
2) idiopathic dilated cardiomyopathy
3) arrhythmogenic right ventricular cardiomyopathy

35
Q

in hypertrophic cardiomyopathy, where is the mutation?

A

= in sarcomeric genes

36
Q

when does hypertrophic cardiomyopathy develop?

A
  • at puberty
    = sometimes with rapid acceleration of hypertrophy in adolescence and stabilisation in mild adulthood
    = may be followed by progressive LV wall thinning in later
37
Q

how would you treat hypertrophic cardiomyopathy?

A

1) beta blockers
2) if hypertrophy causes outflow tract obstruction, isotropic agents may be useful (e.g. verapamil or diltiazem) or septal ablation or surgery
3) treat heart failure if present and symptomatic
4) if AF develops, anti-coagulation is mandatory regardless of CHA2DS2 Vasc score
5) Implantable Cardioverter Defib for secondary prevention of SCD

38
Q

what is the clinical presentation in hypertrophic cardiomyopathy?

A
  • sudden death
  • heart failure
  • angina
  • atrial fibrillation
  • asymptomatic
39
Q

who is most likely to develop dilated cardiomyopathy?

A
  • males > females
40
Q

what genes are mutated in dilated cardiomyopathy?

A
  • sarcomere and desosmal genes, laminA/C and design if there is conduction disease, dystrophin if X-linked
41
Q

what causes arrhythmogenic right ventricular cardiomyopathy?

A

= fibro-fatty replacement of cardiomyocytes in right ventricle

42
Q

what part of the heart is involved in the majority of cases in arrhythmogenic right ventricular cardiomyopathy?

A

= left ventricle

43
Q

what genes are mutated in

arrhythmogenic right ventricular cardiomyopathy?

A
  • autosomal dominant mutations in genes for desmosomal proteins
  • autosmal recessive mutations in non-desomsosomal genes
44
Q

how would you manage inherited cardiac conditions?

A

1) DIAGNOSIS
- clinical and genetic testing

2) RISK MANAGEMENT
- lifestyle, pharmacological, non-pharmacological

3) FAMILY CASCADE SCREENING

45
Q

name some lifestyle and triggers in inherited cardiac conditions?

A
  • sports & physical exercise
  • diet & alcohol
  • medications
46
Q

specifically, what lifestyle changes should be done in Long QT syndrome?

A
  • Diet: potassium rich foods (bananas, beans, oranges, green leafy vegetables, nuts)
  • Diarrhoea, vomiting
  • Underwater breath holding.
  • Avoiding sudden loud noises.
47
Q

specifically, what lifestyle changes should be done in brugada syndrome?

A
  • Excessive alcohol

- Prompt treatment of fevers

Cardiovascular (Annie) (36 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions