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Hypertrophic cardiomyopathy
- cardiac hypertrophy in the absense of increased external load
- impaired diastolic function (systolic function ok)
- septum is prominent site of involvement
-disease of sarcomere(
inc Ca and ATP sensitivity
)
1
: B-My HC
2
: cTnT (anchor troponin to tropomyosin
3
: cMyBP-C (anchor myosin to titin)
Dilated cardiomyopathy
-LV chamber enlargement
-gradual heart failure
- deadly A and V arrhythmias
- mutation of
cytoskeleton
genes
weakened sarcomere contraction
Glycogen cardiomyopathy
- genes of metabolism associated with lysosomes
- glycogen deposition
-
Floppy baby (hypotonia)
- myociyte and myofiber disarray
- fibrosis
Pompe disease
-recessive
- lysosomal acid a
1,4-glucosidase (
GAA) defeciency
(glycogen cardiomyopathy)
Danon disease
-X-linked
-
LAMP2
(lysosomal associated membrane protein) deficiency
-(glycogen cardiomyopathy)
Fabry disease
- x linked glycogen cardio myopathy
- GLA (
galactosidase A)
deficiency
PRKAG2
-glycogen storage disease
- alpha 2 s/u of
AMPK
Restrictive cardiomyopathy
- normal or decreased vol of both ventricles
- bi-atrial enlargement
- cardiac
troponin I
mutation
Arrhythmogenic cardiomyopathy
- RV mostly affected
- progressive replacement of myocytes with fatty or
fibrofatty tissue
- begins in epicardium and extends to subendocardium
-
desmosomal
mutation
long QT syndrome
- repolarization disorder
-
K (dec out), Na ( inc in) or Ca channel defects
- ventricular tacchyarrythmias
short QT syndrome
- hastened repolarization
- high rate of sudden death (very short QT)
- gain of function of
K channel
Brugada
- ST elevation in the right precordial leads
- sudden cardiac death (sudden unexpected death syndromw)
- Endemic in east and SE Asia
-
slowed Na influx
SA node dysfunction
- loss of
Na channel
function
- SCN5A and SCN5B
- sick sinus syndrome
catecholaminergic polymorphic ventricular tachycardia
- triggered by Epi (adrenergic stimuli)
- excessive Ca in cell causes tachycardia at rest
-
RyR channel
mutation
-
calsequestrin
mutation
Author
sweetlu
ID
118677
Card Set
gen 3
Description
gen 3
Updated
2011-11-23T19:27:44Z
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