Cardiovascular Genetics For Gc Boards

Front 1

Sinus Node

Back 1

Specialized group of cells that the right atrium the generate impulses that coordinate pumping of blood
-sinus node---> throughout

Front 2

Arrythmia

Back 2

abnormal heart beat
bradycardia; excessively slow heartbeat
tachycardia: excessively rapid heartbeart

Front 3

Ventirocular fibrillation

Back 3

Ventricles quiver rather than pumping
Sever medical emergency, heart not pumping blood

Front 4

Electrocardiogram (ECG/EKG)

Back 4

-records electric activity of heart
-track through heart rythym
-P wave- represent atrial activation,
-PR interval- time of onset from atrial activation to venticular activation
-QRS- represents ventricular activation
-

Front 5

Holtermonitor

Back 5

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

Front 6

Cardiac Stress test

Back 6

Measures hearts ability to respond to external stress (excersice or drugs) using an EKG

Front 7

Echocardiogram

Back 7

ultrasound waves to visualize the heart
-septal defect, stenosis, leaky valve
2 kinds: transthoracic (TTE) non-invasive
transesophoageal (TEE) more direct visualization through esophagus

Front 8

Ejection Fraction

Back 8

blood ejected from left ventricle with heart beat, normal is 50% or higher

Front 9

Heart catherization

Back 9

catheter in chamber of heart
-pulmonary arterial pressure: measures pressure in pulmonary atery
-myocardial biopsy- heart muscle taken

Front 10

Pacemaker

Back 10

provides electrical impulses to regulate heart beat, usually for a slow heart beat

Front 11

ICD

Back 11

monitor and corrects arrhythmia , delivers shock to entire body to correct arrhythmia

Front 12

Syncope

Back 12

fainting, loss of consciousness

Front 13

Palpitations

Back 13

feelings or sensation of pounding racing, skipping or stopping beats

Front 14

Sudden Cardiac Death

Back 14

Reason for referral, abrupt, unexpected, palpitations, light headedness and syncope
-25-50% no prior medical history
-8% survival
hard to determine cause of cardiac death (sometimes autopsy)
95% underlyin structural disease (CAD, cardiomyopathy, valvular heart disease, congential heart disease, ARVD)
5% apparently normal, primary heart rythym (long QT, Brugada, Preexication, Commotio cordis)

Front 15

Familial hypercholesterolemia

Back 15

-AD, can have homozygotes
-LDL receptor genes, ApoB-100 gene
-elevations in serum cholesterol, LDL chol. early in life
-Xanthomas- yellowish cholesterol-rich material in tendons
-Atheromas-accumulation of debris
-Elevated risk of CAD and mycardial infarct

Front 16

Why doesn't a negative family history exclude genetic risk of cardio diseases?

Back 16

1. low penetrance
2. age-related penetrance
3. premature death

Front 17

Cardiomyopathy

Back 17

Disease of heart muscle
-lead to heart failure

Front 18

Dilated cardiomyopathy

Back 18

most common
in adults
muscle makes up left ventricle stretches and becomes thinner spreads to right ventricle and atria
delated heart chamber does not pump efficiently (systolic dysfunction)
-30 genes identified (explains half DCM)
-most AD, some recessive, x-linked

Front 19

Hypertrophic cardiomyopathy

Back 19

-affects all ages
-muscle cells enlarge causes ventricular walls to thicken -and stiffen
-ventricle cannot relax and fill with blood

Front 20

Restrictive cardiomyopathy

Back 20

older adults
scar tissue replaces normal heart muscle
ventricles are stiff and rigid
lead to heart failure

Front 21

ARVD

Back 21

teens or adults
tissue in right ventricle dies and replaced with scar tissue
disrupts heart's electrical signals and causes arryhytmias
-palpations and fainting after physical activity

Front 22

DCM genes

Back 22

-TTN through TMPO assosciated with sarcomeric proteins or proteins associated with contractile apparatus
-most common genetic causes
TNNT2-mutations can be associated with early onset and more aggressive disease
-LMNA and SCN5A

Front 23

LMNA gene

Back 23

-LMNA- DCM with arrhytmias like atrial fibrillation, risk of cardiac death (often needs pacemaker)
-also cause Emery-Dreifuss muscular dystrophy
- cardiomypathy alone, skeletal myopathy alone or both

Front 24

X-linked DCM Genes

Back 24

DMD- predominant cardiac phenotype
TAZ: Barth syndrome-congential cardiomyopathy, underdeveloped skeletal musculature, muscle weakness, short stature and neurtopenia

Front 25

HCM Symptoms

Back 25

Shortness of breath, chest pain, palpitations, sycope, asymptomatic, heart failure suddent cardiac Death
diagnosis: Echo, EKG, heart tissue sample

Front 26

HCM genes

Back 26

60-70% sarcomere genes, AD
Pathology: myocyte hypertrophy and
MHY7 and MYPBC3 - make up 40%

Front 27

MHY7

Back 27

younger diagnosis, more severe hypertrophy and nearly complete penetrance

Front 28

PRKAG2 and LAMP2

Back 28

Other "HCM" genes, MIMCS
Metabolic storage disease of myocardium
Wolf-Parkinson-White syndrome
LAMP2- Danon disease

Front 29

GLA

Back 29

results in fabry, x-linked, left ventricular hypertrophy

Front 30

RAS MAPK

Back 30

~20% ind with Noonan develop HCM

Front 31

HCM Molecular Testing

Back 31

Detection rate not 100%
Up to 5% affected individuals can have more than one mutation (compoud hets, double hets, homozygotes)
-limitations in predication clinical course

Front 32

Screening Guidelines for HCM

Back 32

<12 years: family history of early HCM-death, early LVH or complications,
12-18: ECG and echo every 12-18 months
>18-21 yrs, ECG and echocardio, repeate every 3-5 years in response to change in symptoms
-tailor eval

Front 33

Activity Guidelines for HCM

Back 33

Moderation in physical activities
avoid competitive endurance training
avoid burst activities
avoid intense isometric excersice

Front 34

Non-Compaction Cardiomyopathy

Back 34

-usually left ventricular non compaction
70% inerited
adult form: 40 yo
COngential: 6 yr
Present with heart failurem thromboembolic events, atrial fibrillation
Genetics: MYH7

Front 35

Heart Formation, Non-compaction cardiomyopathy

Back 35

-myocardium muscle of heart as a spongy layer, start off as trabecular fibers and recesses spaces
-between weeks 5 and 8 spongy material compacts and if it doesn't than you have NON-compaction cardiomyopathy

Front 36

Long QT Syndrome

Back 36

-inherited or acquired (medications, metabolic abnormalities or bradycardia)
-Prolonged QT interval
-characteristic polymorphic ventricular tachycardia "torsades de pointes", syncrope or ventricullar fibrillations

Front 37

Romano-Ward Syndrome

Back 37

AD
4% risk of sudden cardiac death

Front 38

Jervell and Lange-Nielsen Syndrome

Back 38

AR, LQT and *SENSI