Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
17 Cards in this Set
- Front
- Back
|
Hypertrophic Cardiomyopathy (HCM) |
-Disease of the sarcomere -preserved systolic but impaired diastolic |
|
|
Beta myosin heavy chain |
-Part of myosin motor unit ->35% - 50% frequency
|
|
|
Cardiac Troponin T |
-Anchors Troponin to Tropomyosin -15%-20% |
|
|
Cardiac myosin binding protein C |
-Anchors myosin to Titin ->15%-20% |
|
|
Dilated Cardiomyopathy (DCM) |
-Disease of cardiac cytoskeleton -left ventricular enlargement and systolic dysfunction -often in association with arrhythmias -sarcomere contracts with less force |
|
|
Glycogen Cardiomyopathy |
-Defects in genes of metabolism that are associated with lysosome -Glycogen desposition |
|
|
Pompe disease |
-Recessive -1,4 glucosidase (GAA) deficiency) |
|
|
Danon Disease |
-X linked -lysosome associated membrane protein (LAMP2) deficient |
|
|
Fabry disease |
-X linked -galactosidase A (GLA) deficient -Dilated cardiomyopathy |
|
|
PRKAG2 |
Gamma 2 subunit of AMP activated kinase |
|
|
Restrictive Cardiomyopathy (RCM) |
-normal or decreased volume of ventricles and Atrial enlargement -impaired ventricular filling -Troponin I (TNNTI3) |
|
|
Arrhythmogenic right ventricular Cardiomyopathy (ARVC) |
-disease of desmosome -right ventricle myocytes replaced with fatty or fibrofatty cells -Begins at epicardium and extends to subendocardium |
|
|
Long QT syndrome |
-Repolarization disorder -Prolonged QT interval -Syncopal episodes, lethal torsades de pointes tachyarrhytmias -Recessive form associated with deafness -Little K+ (KCNQ1) efflux or prolonged Na+(SCN5A), Ca2+ influx -treat with Beta Blocker |
|
|
Short QT syndrome |
-Sudden death -Short QT interval -Repolarization sped up by outward current -Gain of function mutation (KCNH2, KCNQ1, KCNJ2) -K+ efflux |
|
|
Brugada syndrome |
-ST segment elevation in the right Precordial leads -risk of sudden cardiac death -Autosomal Dominant -SCN5A, SCN1B loss of function (Sodium)
|
|
|
Cardiac Conduction disease and sinus dysfunction |
-Loss of function of Sodium channel complex (SCN5A, SCN1B) -leads to conduction disease -SCN5A- lead to recessive sick sinus syndrome -HCN4 - encodes cardiac pacemaker channel- mutation causes Autosomal dominant sinus node dysfunction |
|
|
Catecholaminergic polymorphic ventricular tachycardia |
-Autosomal Dominant -Ryanodine receptor channel mutation (RYR2) -Too much calcium released -triggered by adrenergic stimuli
-Recessive form- CASQ2 mutation encodes calsequestrin (Ca2+ reservoir) -more severe |
