Cardio Flashcards

1
Q

Sinus Node

A

specialized group of cells in
the right atrium that generates impulses that
coordinate the pumping of blood

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

Arrhythmia

A

Abnormal Heart Beat

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

Bradycardia

A

excessively slow heartbeat

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

Tachycardia

A

Excessively rapid heartbeat

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

V-fib

A

ventricles quiver

rather than pumping blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

ECG/EKG

A

A
study used to record the electrical
activity of the heart using electrodes
attached to the skin

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

P wave:

A

Represents atrial

activation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

PR interval

A

Represents
the time from onset of atrial
activation to onset of
ventricular activation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

QRS complex:

A

Represents

ventricular activation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

QRS duration

A

Duration of

ventricular activation

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

ST-T wave:

A

Represents

ventricular repolarization

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

QT interval

A

Duration of
ventricular activation and
recovery.

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

Holter monitor

A

portable device that
records the electrical activity of the heart
over a period of time (at least 24 hours)

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

Cardiac stress test

A

measures the
heart’s ability to respond to external
stress (exercise or drugs) using an EKG
in a controlled setting

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Echocardiogram

A

A test that uses
ultrasounds waves
to visualize that
heart

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

Color Doppler (echos)

A

used to visualize abnormal
communications between the left and right side of the
heart, leaking of blood through the valves, and if the
valves are opening properly.

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

Transthoracic echocardiogram (TTE)

A

Non-invasive technique

Most common form of echocardiogram

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

Transesophageal echocardiogram (TEE)

A

A probe containing an ultrasound transducer is
passed into the patient’s esophagus for visualization
of the heart

Clearer images

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

Ejection Fraction

A

measurement of the
blood ejected from the left ventricle with
each heart beat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

normal ejection fraction

A

50% or higher

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Heart catheterization

A

Invasive test that
involves the insertion of a catheter into a
chamber or vessel of the heart for
evaluation or other procedures

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Reasons for Heart catheterization

A

Pulmonary arterial pressure or myocardial biopsy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Pacemaker

A

An electronic device
implanted to provide electrical impulses to
regulate the heartbeat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Reasons for a pacemaker

A

Used in individuals with a slow heart rate or problem

with the heart’s electrical conduction system

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Automatic implantable cardioverter

defibrillator (ICD)

A

An electric device that
is implanted to monitor for and correct
cardiac arrhythmia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Reasons for an ICD

A

Used in individuals at risk for sudden cardiac death

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Syncope

A

fainting, brief loss of
consciousness caused by temporary lack
of oxygenated blood

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Palpitations

A

Feelings or sensations that
the heart is pounding/racing or skipped/
stopped beats. May represent a normal or abnormal heart
rhythm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Sudden Cardiac death

A

žDeath from an abrupt loss of heart
function
• Within 1 hour of the onset of cardiac symptoms
• Natural, rapid, unexpected
Symptoms: chest pain, palpitations, dizziness,
lightheaded, syncope
• 25-50% - no prior heart medical history

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Survival rate of sudden cardiac death

A

Only an 8 percent survival rate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Coronary heart disease and heart attack

A
žMultifactorial disease (with a few rare
exceptions)
• Risk factors
 - Family history (strongest independent risk factor)
 - Sedentary lifestyle
 - Smoking
 - Obesity
 - High-fat diet
ž
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Familial Hypercholesterolemia

A

Significant elevations in total serum
cholesterol and LDL cholesterol early in
life

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

FH risks

A

Xanthomas
Atheromas
Elevated risk for CAD and myocardial infarction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Xanthomas

A

yellowish cholesterol-rich material in tendons or

other body parts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Atheromas

A
accumulation of debris containing cholesterol in the
artery walls (plaques)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

FH inheritance

A

AD - homozygotes have earlier age of onset and more severe disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

Genes for FH

A

LDL recepter gene (LDLR)
ApoB-100
others

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Benefits of genetic testing for familial

hypercholesterolemia

A
  • Early screening for elevated cholesterol levels

* Risk-factor modification before onset of disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Locus heterogeneity

A

Mutations in different genes causes a similar

phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Allelic heterogeneity

A

Different mutations within the same gene cause a

similar phenotype

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Phenotypic heterogeneity

A

Different mutations within the same gene cause

different phenotypes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

Cardiomyopathy

A

žDiseases of the heart muscle
(myocardium)

žCan lead to heart failure (swelling of
lower extremities, dyspnea – shortness of
breath), risk for arrhythmia, stroke, and
sudden cardiac death

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Dilated cardiomyopathy

A

• Most common type
• Usually occurs in adults
• Muscle that makes up the left ventricle stretches
and becomes thinner, spreads to the right
ventricle and atria
• Dilated heart chambers cannot pump blood
efficiently (systolic dysfunction – ejection
fraction less than 50%)

44
Q

Hypertrophic cardiomyopathy

A

• Affects all ages
• Muscle cells enlarge causing ventricular walls to
thicken and stiffen
• Ventricle cannot adequately relax and fill with
blood
• Can result in sudden cardiac arrest, arrhythmia,
chest pain, dizziness, fatigue, syncope, shortness
of breath, or fainting

45
Q

Restrictive cardiomyopathy

A
  • Mostly occurs in older adults
  • Scar tissue replaces normal heart muscle
  • Ventricles become stiff and rigid
  • Blood flow in the heart is reduced
  • Can lead to heart failure or arrhythmias
46
Q

Arrhythmogenic Right Ventricular Dysplasia

ARVD

A

• Often affects teens or young adults
• Muscle tissue in the right ventricle dies and is replaced
with scar tissue
• Disrupts the heart’s electrical signals and causes
arrhythmias
• Palpitations and fainting after physical activity

GENETIC

47
Q

Most common reason for referral for heart transplant

A

Dilated cardiomyopathy (DCM)

48
Q

Mutations in _ are the most common known cause of DCM

A

TTN (TITAN)

49
Q

TNNT2

A

DCM gene. TNNT2 mutations may be associated with earlyonset
and aggressive disease, but late onset has
also been reported.

50
Q

Phenotype: DCM with conduction system

disease

A

• LMNA: DCM with arrhythmias like atrial
fibrillation, risk of sudden cardiac death, often
require a pacemaker
- Mutations in LMNA also cause Emery-Dreifuss
muscular dystrophy
- Can present as cardiomyopathy alone, skeletal
myopathy alone, or both

• SCN5A

51
Q

X-linked transmission of DCM genes

A

DMD (Duchenne) and TAZ (Barth syndrome)

52
Q

Hypertrophic Cardiomyopathy

A

Left ventricular hypertrophy without
another predisposing cardiac condition
(like aortic stenosis and long-standing
hypertension)

53
Q

Symptoms of HCM

A
• Shortness of breath (particularly with exertion),
chest pain, palpitations, and syncope
• May be asymptomatic
• Can lead to heart failure
• Can lead to sudden cardiac death
54
Q

Diagnosis of HCM

A

• Echocardiogram, electrocardiogram, physical
exam and history
• Heart tissue sample
• Genetic testing

55
Q

HCM Genes

A

60-70% caused by mutations in sarcomere genes
• Autosomal dominant
• Pathologic feature: myocyte hypertrophy and
disarray
MYH7 and MYBPC3 are the big ones!!

56
Q

Mutations in _ and _ each make up to 40% of HCM

A

MHY7 and MYPBC3

57
Q

MYH7 mutations are association with:

A

younger age of diagnosis, more severe
hypertrophy, and nearly complete
penetrance, but variable survival.

58
Q

Other “HCM” genes

A

PRKAG2 and LAMP2 and GLA
• Result in metabolic storage disease of the
myocardium
• Mutations in PRKAG2 may result in WolffParkinson-White
(WPW) syndrome with or
without HCM
• Mutations in LAMP2 result in Danon disease, an
x-linked disorder with cardiomyopathy, muscle
weakness, variable intellectual disability

59
Q

LAMP2

A

Mutations in LAMP2 result in Danon disease, an
x-linked disorder with cardiomyopathy, muscle
weakness, variable intellectual disability

60
Q

PRKAG2

A

Mutations in PRKAG2 may result in WolffParkinson-White
(WPW) syndrome with or
without HCM

61
Q

GLA

A

GLA
• Results in Fabry disease, x-linked, associated
with left ventricular hypertrophy, may be limited
to the heart

62
Q

RAS MAPK pathway genes

A

Other HCM genes. ~20% of individuals with Noonan syndrome develop HCM

63
Q

Non-Compaction Cardiomyopathy (NCCM)

A
  • žUsually seen as Left Ventricular noncompaction
    (LVNC)
  • žApproximately 70% of LVNC is inherited
  • žWide range of age of onset
    • Adult form = average age of onset is 40yo
    • Congenital form = average age of onset is 6yo
64
Q

Heart formation

A
  • žEmbryonic development of the heart is
    very complex
  • žThe myocardium is the muscle of the
    heart and starts off as a spongy layer
    • Starts off as trabecular fibers and recesses
    (spaces)

ž- Between weeks 5 and 8, this spongy
material compacts
• The recesses disappear or become capillaries
• If the myocardium does not compact as tightly as
it should, NCCM/LVNC is the result

65
Q

Clinical presentation of NCCM

A

žThromboembolic events
žAtrial fibrillation
žVentricular tachycardia
žHeart failure

66
Q

What is used to diagnose NCCM

A

ECG and echocardiography findings are
used to diagnose NCCM, and sometimes
cardiac MRI

67
Q

Most common gene to cause NCCM

A

MYH7

68
Q

Long QT syndrome

A

ž - Inherited or acquired
• Medication
• Metabolic abnormalities
• Bradycardia

-ž Prolonged QT interval

-ž Characteristic
polymorphic
ventricular tachycardia
• Torsades de pointes
(“twisting of points”)
• May result in syncope or
ventricular fibrillation
and cardiac arrest /
sudden cardiac death
69
Q

Romano-Ward syndrome

A

• Usually autosomal dominant
• 4% risk of sudden cardiac death in the 3 most
common subtypes from birth to age 40 years1

70
Q

Jervell and Lange-Nielsen Syndrome

A
  • Autosomal recessive
  • LQTS and sensorineural deafness
  • KLQT1 (KCNQ1) and KCNE1
71
Q

LQT8 type

A

Timothy syndrome

72
Q

LQT7 type

A

Anderson-Tawil syndrome

73
Q

Anderson-Tawil syndrome

A

• KCNJ2
• Skeletal abnormalities
• Periodic paralysis and LQTS exacerbated by
hypokalemia (low potassium)

74
Q

Timothy syndrome

A
  • CACNA1c
  • Syndactyly
  • Dysmorphic features
  • Intellectual disability
  • Autism
  • Arrhythmias
75
Q

LQT1 trigger, age, beta blockers effective?

A

exercise, before 10 y, likely effective

76
Q

LQT2 trigger, age, beta blockers effective?

A

emotion, after age 10, less likely effective

77
Q

LQT3 trigger, age, beta blockers effective?

A

Rest or sleep, after age 10, less likely effective

78
Q

Genes for Jervell and Lange-Nielson syndrome

A

KCNQ1 or KCNE1 in 94%

79
Q

Agents/circumstances to avoid for LQTS

A
  • žDrugs that cause further prolongation of
    the QT interval
  • žCompetitive sports/activities associated
    with intense physical activity and/or
    emotional stress
80
Q

Short QT syndrome

A
  • žA heritable disorder of the electrical system of the heart
  • žCharacterized by short QT interval on EKG (<320ms) and tall, peaked T waves
  • žIncreased risk for SCD and atrial fibrillation
  • žSame symptoms as long QT syndromeclinical presentation is indistinguishable from long QT
81
Q

Genetics of SQTS

A

žRare
• May account for some cases of SIDS

žVariable penetrance

žAustosomal Dominant
• KCNH2
• KCNQ1
• KCNJ2

žDetection rate unknown

82
Q

Brugada syndrome

A

Characterized by abnormal EKG and

increased risk of sudden cardiac death

83
Q

Sudden unexpected nocturnal death syndrome

SUNDS

A

(Brugada) Syndrome seen in Southeast Asia in which apparently healthy young persons (often males) die from cardiac arrest

84
Q

Brugada syndrome often presents:

A

• Often presents with syncope or cardiac arrest, often
at rest or while sleeping
• Often presents in the 3rd or 4th decade of life
• Can present as sudden infant death syndrome
(SIDS), or
• Sudden unexpected nocturnal death syndrome
(SUNDS)

85
Q

Management of Brugada syndrome

A
  • žImplantable cardioverter defibrillators
    (ICDs)
    • Only therapy known to be effective in affected
    individuals with syncope or cardiac arrest
  • žAvoid/treat fever, cocaine use, electrolyte
    disturbances, and medications that can
    induce arrhythmias
86
Q

Brugada syndrome EKG

A
  • ž Right bundle branch block and ST segment elevation in leads V1 through V3 with a “coved morphology”
  • ž May be spontaneous or induced by medication
87
Q

Gene with largest role in Brugada

A

SCN5A (15-30%)

88
Q

Pulmonary Arterial Hypertension (PAH)

A

Widespread obstruction and obliteration
of the smallest pulmonary arteries
• Resistance to blood flow through the lungs
increases and the right ventricle attempts to
compensate by generating higher pressure.
• Heart failure develops when the heart can no
longer compensate for the increased resistance.

89
Q

Symptoms of PAH

A

dyspnea (shortness of breath), Reynaud’s phenomenon, fatigue, syncope, chest pain, near syncope, palpitations, leg edema

90
Q

Diagnosis of PAH

A

-ž Right heart catheterization
• Mean pulmonary artery pressure >25 mmHg at rest
or >30 mmHg during exercise
-ž Exclude other known causes of pulmonary hypertension

91
Q

Other known causes of pulmonary hypertension

A
• Advance stage lung disease
• Pulmonary embolism/disease of large pulmonary
vessels
• Advanced heart disease
• Connective tissue diseases
• Cirrhosis
• HIV infection
92
Q

Largest genetic contributor to PAH

A

BMPR2 (75%)

93
Q

PAH and HHT

A

-ž HHT
• Presence of multiple arteriovenous malformations
(AVMs)
If close to the surface of the skin, bleed with slight trauma
• Recurrent nosebleeds
• GI bleeding
• Complications of AVMs in the brain, liver, or lungs
-ž PAH and HHT can occur together
• ACVRL1
• ENG or SMAD8 (rarely)
• BMPR2 (reported in one family)

94
Q

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (AFVD/C)

A

Progressive fibrofatty replacement of the
myocardium, predisposing to ventricular
tachycardia and sudden death

95
Q

Four phases of AFVD/C

A

• Concealed phase (no clinical manifestations, but
potential risk of sudden cardiac death)
• Electrical disorder with symptomatic arrhythmias
• Right ventricular failure
• Biventricular pump failure resembling dilated
cardiomyopathy

96
Q

Diagnosis of ARVD

A
  • žNoninvasive
    • EKG, 24-hour Holter monitoring
    • Echocardiogram
  • žInvasive
    • Right ventricular angiography (RVA)
    • Right ventricular endomyocardial biopsy
    Fibrofatty replacement of the myocardium and/or
    atrophy of the right ventricular myocardium
97
Q

Genes for ARVD

A

DSP, PKP2, DSG2

98
Q

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

A

-ž Cardiac electrical instability triggered by
acute activation of the adrenergic nervous
system (Catecholamines: epinephrine
(adrenaline), norepinephrine
(noradrenaline) and dopamine)
-ž Rapid heart beat that originates in one of
the lower chambers (the ventricles) of the
heart
• QRS complexes with frequent and rapid changes in
morphology

99
Q

Symptoms of CPVT

A
- žSyncope occurs in 80% of affected
individuals
• Often during exercise or acute emotion
• ventricular tachycardia (bidirectional or
polymorphic).
•  Arrhythmias may self-terminate
•  Or may lead to ventricular fibrillation and cause
sudden cardiac arrest/death
  • žCardiac arrest occurs in 30% of affected
    individuals
100
Q

Genes in CPVT

A

RYR2 (AD - 50-55%) and CASQ2 (AR - 1-2%)

101
Q

Amyloid

A

a protein deposit exhibiting beta

sheet structure

102
Q

Amyloidosis

A

disease where there is a buildup

of amyloid in body tissue and organs

103
Q

Cardiac Amyloidosis

A

deposit of abnormal
protein (amyloid) in the heart tissue
• Amyloid deposits take the place of normal heart
tissue and may affected electrical signals

104
Q

Transthyretin (TTR) amyloidosis

A
  • Group of diseases caused by the accumulation
    of abnormal protein in the body
    ž- Clinical presentation can include peripheral
    and autonomic sensorimotor neuropathy,
    cardiomyopathy, vitreous opacities, and CNS
    amyloidosis
    ž- Transthyretin gene (TTR)
    -ž Autosomal dominant
    -ž De novo rate: 2/3 (66%)
105
Q

Cardio pedigree questions

A
žCongenital Heart Disease
žPalpitations/arrhythmias
žChest pain
žHeart failure
• Shortness of breath, edema, fatigue
žEnlarged heart
žHypertension 
žHigh cholesterol
žHeart murmur
žStroke/TIA
žDeep vein thrombosis (DVT)
žHeart (and/or lung) transplant or surgery
žPacemaker/ ICD
žCongenital deafness 
žHeart attack
• Age?
• Coronary artery disease?
žSudden unexplained death
• SIDS
• Odd/unexplained accidents
• Single car accident
• Drowning in an experienced swimmer
• Sudden death in a young, apparently healthy
individual 
ž Fainting, black-out, dizziness, or near
fainting
• Context?
• Trigger?
ž Seizures
ž • Symptoms of other differential diagnoses
 • Numbness/tingling and heat/cold intolerance – Fabry
disease
 • Arachnodactyly and dislocated lens – Marfan syndrome
•  Muscular Dystrophies
•  Other hereditary conditions
106
Q

Sarcomere

A

heart muscle

107
Q

Causes of HCM

A

Genetic (60-70%); non-genetic or unknown (30-40%)