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ABGC > Cardiovascular Genetics > Flashcards

Cardiovascular Genetics Flashcards

1
Q

sinus node

A

specialized group of cells in RA that generates impulses to coordinate the pumping of blood

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2
Q

arrhythmia

A

abnormal heart beat

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3
Q

bradycardia

A

excessively slow heartbeat

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4
Q

tachycardia

A

fast heartbeat, >100bpm

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5
Q

V fib

A

ventricles beating too rapidly causing tachycardia, eventually leads to medical emergency where the ventricles quiver and are no longer pumping blood

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6
Q

ECG/EKG

A

study used to record electrical activity of the heart with probes attached to skin

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7
Q

p-wave

A

atrial activation

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8
Q

pr interval

A

time between atrial activation to ventricular activation

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9
Q

QRS complex

A

represents ventricular activation, large peak on EKG

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10
Q

STT wave

A

represents ventricular repolarization

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11
Q

QT interval

A

period of ventricular activation and recovery

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12
Q

Holter monitor

A

portable device that records cardiac activity over a period of time (at least 24h)

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13
Q

stress test

A

test measuring cardiac ability to respond to external stress (ex: drug, exercise); coupled with EKG in a controlled setting

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14
Q

echo

A

test that uses ultrasound waves to visualize heart

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15
Q

color doppler

A

can be used in echo to look for abnormal communication between the right and left sides of the heart

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16
Q

transthoracic echo

A

most common, non invasive echo

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17
Q

transesophageal echo

A

more invasive echo, but completed because of the pictures it can provide

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18
Q

EF

A

measurement of blood leaving LV with each heart beat; normally above 50%

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19
Q

cardiac catheterization

A

invasive test that involves insertion into the heart for evaluation or so another procedure may be completed

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20
Q

pulmonary arterial pressure

A

measurement of the pressure inside the pulmonary artery via cardiac catheterization

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21
Q

myocardial biopsy

A

heart tissue taken for microscopic study

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22
Q

PM

A

implanted device that provides electrical impulses for each heartbeat; used when people have conduction anomalies or slow heartbeats

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23
Q

ICD

A

electronic device implanted to monitor for and prevent arrhythmias; only device that delivers a shock to the body

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24
Q

syncope

A

fainting or brief loss of consciousness due to temporary loss of oxygenated blood

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25
Q

palpitations

A

feeling of pounding, racing, skipping stopping beats; can include or exclude an abnormal underlying heart rate

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26
Q

SCD

A

death due to an abrupt loss of heart function; natural, rapid, unexpected and occurs within one hour of onset of symptoms

  • 25% occurs in people with no cardiac history, most due to underlying structural defects
  • 8% survival rate
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27
Q

SCD symptoms

A

CP, palpitations, syncope, dizziness, lightheadedness

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28
Q

commotion cordis

A

blow to the chest at the right time in rhythm to cause death

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29
Q

coronary heart disease

A

multifactorial disease

  • risk factors: family history, sedentary lifestyle, high fat diet, smoking
  • GT not standard of care, but part of research
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30
Q

familial hypercholesterolemia (FH) phenotype

A
  • total serum cholesterol and LDL are elevated
  • xanthomas
  • atheromas/plaques
  • causes elevated risk for CAD and MI
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31
Q

xanthoma

A

yellowish cholesterol-rich material in tendons or other body parts

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32
Q

atheroma

A

accumulation of debris containing cholesterol in artery wall

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33
Q

FH genetics

A

-AD
+earlier age of onset and more severe disease seen in homozygotes
-genes: LDLR, ApoB-100 (100 is one of two gene isoforms), more being linked

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34
Q

benefits of GT for FH

A
  • allows for early screening related to elevated cholesterol levels and risk factor modification prior to symptom onset
  • identifies at risk family members and how to target interventions
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35
Q

predisposition testing

A

*not very commonly done

assessing susceptibility to multifactorial disorders

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36
Q

pharmacogenetic testing

A

goal is to identify better drugs for treatment with fewer side effects and greater efficacy based on the analysis of genes responsible for drug metabolism and activity

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37
Q

analytical validity

A

correctness/accuracy of result

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38
Q

clinical validity

A

chance of revealing a result that allows us to make medical interventions on patient

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39
Q

clinical utility

A

how will testing guide management and intervention; was testing completed for a clinically valid reason

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40
Q

locus heterogeneity

A

mutations in different genes cause similar phenotypes

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41
Q

allelic heterogeneity

A

mutations in the same gene cause similar phenotypes

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42
Q

phenotypic heterogeneity

A

different mutations within the same gene cause different phenotypes

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43
Q

challenges in CV GT

A

does not account for low penetrance of mutations, age-related penetrance, or premature death
-“negative family history” may not mean investigation is not warranted (genetic basis not necessarily excluded)

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44
Q

cardiomyopathy

A

disease of the heart muscle that can lead to heart failure, arrhythmia, stroke, SCD

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45
Q

signs of heart failure

A

SOB/dyspnea, lower extremity swelling

46
Q

DCM phenotype

A

-most common CM, usually occurring in adults
-causes stretching of the left ventricular muscle, leading to thinning
+muscular weakness can move to RV and atria
-dilated/weakened LV muscle can no longer effectively pump blood called systolic dysfunction
-can present with or without conduction system disease

47
Q

systolic dysfunction

A

EF <50%

48
Q

HCM

A
  • can effect people of all ages, including children
  • less common than DCM, but greater understanding of genetics
  • (idiopathic) left ventricular hypertrophy without another predisposing condition such as aortic stenosis or long standing HTN
49
Q

restrictive CM

A
  • typically occurs in older adults
  • scar tissue replaces normal heart tissue and causes stiffening, rigidity of the ventricles
  • blood flow in the heart is reduced and arrhythmias and heart failure can occur
  • less commonly of primary genetic cause, though can often be secondary to other multi systemic genetic conditions
50
Q

arrhythmogenic right ventricular dysplasia (ARVD)

A
  • often affects children, teens and young adults
  • right ventricular tissue dies and is replaced by scar or other abnormal tissue, disrupting the electrical signals of the heart and causing arrhythmia
  • palpitations and fainting after physical activity are commons symptoms
51
Q

DCM inheritance

A

-greater than 30 genes implicated
+panels are the best approach for molecular diagnosis
+these genes only explain about half of all familial cases
-nearly all (80-90%) of identified genes are AD, though some cases of mito, AR, and XL have been reported

52
Q

DCM genes

A
  • TTN responsible for most known cases
  • many gene defects affect the sarcomeric proteins and ability of the heart to effectively pump blood/contractile apparatus
  • geno-pheno is still being correlated, some studies have show TNNT2 mutations may indicate an earlier age of onset with more aggressive disease
53
Q

LMNA

A

-mutations can cause DCM with conduction system disease causing arrhythmia; including Afib
+increased risk for SCD
+affected individuals often require a PM
-gene also implicated in Emery-Dreifuss MD, so there is some overlap in phenotype and skeletal myopathy can also be seen isolated or in association to CM with these mutations
*example of phenotypic heterogeneity

54
Q

SCN5A

A

mutations can cause DCM with conduction system disease

55
Q

DMD

A

example of X-linked DCM where certain mutations cause a severe cardiac phenotype and subclinical skeletal muscle effects

56
Q

Barth syndrome

A
  • caused by mutations in TAZ
  • phenotype includes congenital CM, underdeveloped skeletal musculature and muscle weakness, short stature and neutropenia
57
Q

HCM pathogenesis

A
  • causes stiffening and thickening of ventricular walls due to muscle cell enlargement and disarray
  • ventricle becomes unable to effectively relax and fill with blood which can result in SCD, arrhythmia, CP, dizziness, syncope, fatigue, SOB
58
Q

HCM symptoms and phenotype

A
  • SOB, especially with exertion, CP, palpitations, syncope
  • can sometimes be asymptomatic
  • can lead to SCD and CHF
59
Q

HCM diagnosis

A
  • typically by echo, electrocardiogram, PE and family history
  • heart sample from cardiac catheterization biopsy may also be helpful to visualize cell size, shape and organization
  • genetic testing-detection not 100%
  • still limited in predicting clinical course
60
Q

HCM genetics

A

-mostly AD inheritance in sarcomeric genes
+mutation causes myocyte hypertrophy and disarray
-5% individuals have multiple mutations (compound hets, double hets) and tend to have very severe phenotypes that often begin at birth
-MYH7, MYBPC3 most common and make up about 40% of HCM

61
Q

MYH7

A
  • mutations most associated with HCM
  • correlation with younger onset age, more severe hypertrophy
  • penetrance is near 100%, but survivability is variable
62
Q

PRKAG2

A
  • mutation tends to result in Wolff-Parkinson White (WPW) with or without HCM
  • result in metabolic disease that can occur in the myocardium and mimic HCM
63
Q

LAMP2

A
  • tends to result in Danon disease

- mutations mimic HCM phenotype due to metabolic disease of the myocardial cells

64
Q

Danon disease

A

X-linked disorder with CM, muscle weakness, and variable ID

65
Q

WPW

A
  • abnormal/accessory pathway allows bypass of the AV node in the heart and causing more rapid movement of electrical conduction activity and causes tachycardia
  • symptoms can include dizziness, syncope, palpitations, SOB and can increase the risk for SCD and MI related to the arrhythmia
66
Q

GLA

A

-gene mutated in Fabry
+X-linked and can be associated with left ventricular hypertrophy
-sometimes mutation symptoms can be isolated to the heart

67
Q

Noonan cardio effects

A
  • mutations in RAS MAPK genes

- 20% of affected individuals develop HCM

68
Q

familial HCM screening

A
  • <12y: only if family history shows condition related death, early LVH, etc, child is a competitive athlete in intense training, child is symptomatic
  • 12-18: EKG & echo every 12-18mo
  • > 18-21y: EKG/echo regimen reduced to every 3-5y or altered in response to a change in symptoms
  • can be tailored for families with later onset phenotype or additional issues
69
Q

HCM activity guidelines

A
  • moderation of all physical activity
  • avoidance of competitive endurance training and burst activities, like sprinting
  • avoidance of intense isometric exercise such as heavy weight lifting
70
Q

non-compaction CM

A
  • most commonly seen as LVNC

- caused by failure of complete packing of the spongy myocardium between weeks 5-8 of gestation

71
Q

LVNC

A

-70% inherited with a wide range of onset
+adult onset with avg age of 40y
+congenital form with avg age of onset at 6y

72
Q

NCCM clinical presentation

A
  • thromboembolic events
  • Afib
  • ventricular tachycardia
  • heart failure
73
Q

NCCM diagnosis

A
  • ECG and echo findings

- sometimes also have cardiac MRI

74
Q

NCCM genetics

A

-AD inheritance, except TAZ (XLD)

+MYH7 most common, then LDB3, ACTC, TNNT2

75
Q

Long QT onset

A

can be inherited or acquired

  • medication induced
  • metabolic abnormalities
  • bradycardia
  • genetics
76
Q

Long QT diagnosis and findings

A
  • prolonged QT interval on EKG

- torsades de points-characteristic polymorphic Vtach

77
Q

effects of Vtach

A
  • syncope
  • Vfib
  • MI
  • SCD
78
Q

Romano-Ward syndrome

A
  • LQTS phenotype
  • usually AD inheritance
  • 4% risk for SCD in 3 most common subtypes between birth and 40yo
79
Q

Jervell and Lange-Nielsen syndrome

A

-LQTS phenotype + SNHL
-AR inheritance of KCNQ1 and KCNE1 mutations
+1/3 individuals are compound hets

80
Q

LQTS RWS genetics

A

-at least 12 genes clinically tested

+KCNQ1 (30-35%), KCNH2 (25-40%), SCN5A (5-10%) most common

81
Q

Anderson-Tawil syndrome

A

-LQTS phenotype caused by mutation of KCNJ2
+exacerbation through hypokalemia
-also causes skeletal anomalies, periodic paralysis

82
Q

Timothy syndrome

A

-LQTS phenotype due to mutation of CACNA1c
+arrhythmias
-also see syndactly, dysmorphic features
-ID, autism

83
Q

trend variability in LQTS

A
  • common triggers: exercise-1, emotion-2, rest or sleep-3
  • age of onset: before age 10-1, after in 2 and 3
  • incidence of cardiac events: decreases with type
  • beta blocker prevention: helpful in type 1, not in 2 and 3
  • shows us how genetic testing may alter management and prognosis for patients
84
Q

LQTS diagnosis

A

-can see reduced penetrance of symptoms and EKG anomalies
-multigene panel best option
+when using most common genes (KCNQ1, KCNH2 and SCN5A) detection rate is ~75%
-Schwartz score for clinical diagnosis based on symptoms
+EKG findings
+clinical history-syncope, deafness
+family history

85
Q

LQTS avoid list

A
  • drugs that prolong interval

- competitive sports/activities associated with intense physical activity and/or emotional stress

86
Q

SQTS

A
  • less known about this syndrome
  • heritable conduction syndrome abnormality
  • shortened EKG QT interval with tall peaked T waves
  • increased risk for SCD and Afib
  • clinically indistinguishable from LQTS by symptoms
87
Q

SQTS genetics

A

-rare and may account for some cases of SIDS; unknown detection rate
-variable penetrance of AD inheritance
+KCNH2
+KCNQ1
+KCNJ2
*allelic heterogeneity

88
Q

Brugada presentation

A

-conduction system anomaly
-characterized by abnormal EKG with increased risk for SCD
+syncope or MI while sleeping or at rest are common; can present as SIDS or SUNDS

89
Q

sudden unexplained nocturnal death syndrome (SUNDS)

A

seen in SE Asia where young, apparently healthy males die of MI; different name for Brugada

90
Q

Brugada management

A
  • ICD placement is only known effective therapy
  • treatment of fever, electrolyte disturbances
  • avoidance of cocaine use, drugs that could induce arrhythmia
91
Q

Brugada EKG

A
  • three different signs for three different types
  • RBBB and ST elevation in leads V1-V3 with coved morphology
  • can occur spontaneously or be induced by medication
92
Q

Brugada diagnosis

A

-clinical criteria
+EKG abnormality combined with personal symptoms or family history
+type 1 abnormality more impactful in scoring

93
Q

Brugada genetics

A
  • AD with variable expressivity and male sex bias

- SCN5A mutations most common (15-30%), other mutations only makeup less than 5%

94
Q

PAH

A

widespread obstruction and obliteration of the smallest pulmonary arteries causes resistance of blood flow to lungs
+RV tries to compensate and pump with higher pressure, leading to heart failure

95
Q

PAH symptoms

A

SOB, Reynaud’s phenomenon in females, fatigue, syncope or near syncope, CP, palpitations, lower limb edema

96
Q

PAH diagnosis and prognosis

A
  • mean survival is 2.8y post diagnosis
  • mean pulmonary arterial pressure during catheterization of >25mmHg at rest or >30mmHg when exercising is diagnostic
  • be sure to rule out advanced stage lung and heart disease, CTD, cirrhosis, HIV, and PE or large pulmonary vessel disease
  • diagnosis in two or more family members or if a disease causing mutation has been identified
97
Q

PAH genetics

A

-BMPR2 mutation accounts for 75% of the cases
+25% of simplex cases (one affected person in family)
+only about 20% penetrance
-other genes are less than 1% cases
-female: male sex bias of 2.5

98
Q

HHT symptoms

A

presence of many arteriovenous malformations (AVMs) that bleed with slight trauma when close to skin surface; recurrent nose bleeds, GI bleeding and AVM complications in brain liver and lungs

99
Q

PAH and HHT joint phenotype genes

A
  • ACVRL1 most common

- rarely ENG, SMAD8 or BMPR2

100
Q

ARVD/ARVCM

A

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

101
Q

ARVD phases

A

1-concealed phase when no clinical manifestations have occurred, but SCD risk exists
2-electrical disorder with symptomatic arrhythmia
3-RV failure
4-biventricular pump failure that resembles DCM

102
Q

ARVD diagnosis

A

-made or supported non-invasively
+24h holter monitor and EKG
-invasive testing also useful-looking for tissue replacement or hypertrophy of myocardium
+RV angiography
+RV endocardial bx
-clinical diagnosis made by meeting certain major and minor criteria related to global v. regional dysfunction and structural anomalies, depolarization, depolarization and conduction anomalies, arrhythmic anomalies, and family history
-genetic testing

103
Q

ARVD genetics

A

-AD inheritance with variable expressivity and reduced penetrance
-DSP, PKP2, DSG2 most commonly mutated
+note great deal of overlap with other conditions

104
Q

catecholaminergic polymorphic v tach (CPVT)

A

-cardiac electrical instability triggered by acute activation of adrenergic nervous system (epi, norepi, dopamine)
-rapid heart beat originating in ventricles
+causes rapid change and morphology to QRS complexes
*normal resting EKG

105
Q

CPVT symptoms

A

-brought on by acute emotional changes, exercise, etc
-syncope occurs in 80% individuals
+can see bidirectional or polymorphic v tach during this time
+arrhythmias may terminate themselves or persist and result in SCD or MI
-cardiac arrest occurs in 30% of affected individuals

106
Q

CPVT incidence and prognosis

A

-mean onset is between 7-9y
+can have onset up to 4th decade and could explain some cases of SIDS
-lower prevalence than other arrhythmogenic disorders

107
Q

CPVT genetics

A
  • AD RYR2 (50-55%)

- AR CASQ2 (1-2%)

108
Q

cardiac amyloidosis

A

deposit of abnormal amyloid protein in heart tissue-replacement of normal tissues may affect electrical signaling

109
Q

transthyretin (TTR) amyloidosis

A
  • group of diseases caused by accumulation abnormal protein in the body
  • clinical presentation can include peripheral and autonomic sensorimotor neuropathy, CM, vitreous opacities and CNS protein buildup
110
Q

TTR amyloidosis genetics

A

-caused by mutation of AD TTR mutations
+2/3 cases de novo
-sequencing most useful
+most mutations are single BP substitutions causing missense changes
-two common mutations-V30M (Portuguese, Japanese, Swedish), V122I (AA)

111
Q

Alagille syndrome

A
  • AD mutations of JAG1, less so NOTCH2
  • 90% individuals with CHD (pulmonic stenosis)
  • also have jaundice, paucity of intrahepatic bile ducts, butterfly vertebral anomalies, renal anomalies
  • dysmorphic features: broad forehead, deep set eyes, pointed chin

ABGC (34 decks)

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