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Cardio Genetics S1M3
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Hypertrophic cardiomyopathy (HCM)
Presence of cardiac hypertrophy w/out increased load
Normal systolic but impaired diastolic function
Hypertrophic cardiomyopathy (HCM) can be considered a disease of
The sarcomere
Hypertrophic cardiomyopathy (HCM) is an example of what hetergeneity
Locus heterogeneity, a number of genes can cause it
Hypertrophic cardiomyopathy (HCM) is caused by what three protein mutations
Beta myosin heavy chain (B-MyHC) most prevelant
Cardiac troponin T (cTnT)
Cardiac myosin-binding protein C (cMYBP-C)
What does cardiac troponin T (cTnT) do
Anchors troponin to tropomyosin
What does Cardiac myosin-binding protein C (cMyBP-C) do
Anchors myosin to titin
What does Beta-myosin heavy chain (B-MyHC) do
It is part of the myosin motor unit
Dilated cardiomyopathy
Left ventricular chamber enlargement and systolic dysfunction
Disease of the cardiac cytoskeleton
Glycogen cardiomyopathy
Defects in genes associated with lysosome causing glycogen deposits
What sets PRKAG2 aside from other Glycogen cardiomyopathies
It only affects heart specific proteins so it isn't seen affecting other systems where the others are
What are the diseases found in glycogen cardiomyopathy
Pompe (recessive)
Danon (X linked)
Fabry (X linked)
PRKAG2
Fabry victims display what physical symptoms
Bloches on skin
Enlarged but weakened left ventricle
Alpha-1,4-glucosidase (GAA)
Protein is deficient in Pompe disease
What is the protein deficient in Danon disease
Lysosome associated membrane protein (LAMP2)
What is the protein deficient in Fabry disease
Galactosidase A (GLA)
What is the protein deficient in PRKAG2 disease
AMP-activated protein kinase (AMPK)
Restrictive cardiomyopathy (RCM)
Decreased volume in both ventricles and biatrial enlargement
Impaired ventricular filling
Defects in Cardiac troponin I (TNNTI3) is often the cause of
Restrictive cardiomyopathy (RCM)
What is the most frequent gene effected in Arrhythmogenic right ventricular cardiomyopathy (ARVC)
PKP2
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Progressive loss of myocytes with fatty tissue replacement
Desmosome disease (PKP2 most frequent)
Channelopathy
Abnormalities in ion channel function in the heart
What causes a long QT syndrome (LQTS)
Mostly K+ channel issues, Na+ and Ca+ can be malfunctioning as well
What are the genes most commonly affected in a long QT syndrome
KCNQ1 and KCNH2
Short QT is often seen in what kind of death
I sudden quick death
Brugada syndrome
ST interval elevated, can be the cause of sudden cardiac death caused by Na+ channel mutation
Endemic in East and South Asia
SCN5A, and SCN1B mutations cause
Sodium channel malfunctions in Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Ryanodine receptor disease and Calsequestrin
Triggered by excersise
Author
lancesadams
ID
74620
Card Set
Cardio Genetics S1M3
Description
Genetics
Updated
2011-04-17T22:54:13Z
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