Term
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Definition
| -Cardiac hypertrophy without increase load -Problem with septum -Disease of sarcomere 1. beta-myosin-heavy chain (b-MyHC) 2. Cardiac Troponin T (cTnT) 3. Cardiac myosin-binding protein C (cMyBP-C) |
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Term
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Definition
LV chamber enlargement without increased LV wall thickness
-Disease of cardiac cytoskeleton, including sarcomere
Can't transmit force-->LV enlargement |
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Term
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Definition
Pompe- alpha1,4-glucosidase
Danon- LAMP- lysosome associated membrane protein
Fabry- alpha-galactosidease A (GLA)
Myocyte vaculoles fill with glycogen |
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Term
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Definition
*Bi-atrial enlargement causing impaired vnetricular filling
-Normal or decreased volume of both ventricles
Cardiac Troponin I |
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Term
| Arrhythmogenic RV Cardiomyopathy (ARVC) |
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Definition
Desmosome
*Progressive loss of myocytes in RV with fatty or fibrofatty tissue replacement |
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Term
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Definition
Increased time of polarization
*Decrease K efflux:
a. LQTS1- KCNH2
B. LQTS2- HERG
-Increased Na influx
a.SCN5a
-Increased Ca influx
Avoid stress, exercise, and swimming
Take beta-blockers |
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Term
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Definition
Shortened QT-interval
-Fast ventricular repol.-->may lead to sudden death
-Gain of function mutations in KCNH2, KCNQ1, KCNJ2 causes overactive K efflux |
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Term
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Definition
Repol. before depol. complete due to influx of Na
SCN5A-pore forming cardiac Na channel
SCN1B- auxiliary subunits
Ajmaline/Flecainide test- induce inhibition of KC-->normal heart shouldn't be greatly affected |
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Term
| Cardiac conductio ndisease/sinus node dysfunction/sick sinus syndrome |
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Definition
Exreme case of BrS
Atrium unable to absorb signal
Defect in either SA node or transmission via atrium
*HCN4
-SCN5A
-SCN1B |
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Term
| Catecholaminergic polymorphic ventricular tachycardia |
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Definition
Excess Ca:
1. Leaking from SR-->ventricular tachycardia due to adrenergic stimuli
2. Most common- Ry-R2 and CASQ2 (ryanodine receptor channel and calsequestrin)-->too much Ca and prolonged sarcomere contraction |
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