Heart Disease and Lipidemia Flashcards
both DCM and HCM result in reduced blood output BUT
via different mechanisms
DCM= heart too large HCM= heart is too small
DCM
most common disease of the heart muscle
contraction of the heart muscle is weakened and left ventricle becomes DILATED
reduced blood outputs (bc cavity is enlarged and stretched)
HCM
muscle tissue in septum becomes abnormally thickened
results in reduced ventricular volume and smaller amount of blood from ventricle (at a higher speed)
can be caused by HTN or aortic stenosis (old people overtime)
Familial HCM inheritance patterns
autosomal dominant
prevalence of Familial HCM
0.0.5-0.2% of population
Familial HCM age of onset
presentation and severity of disease are variable
Familial HCM genetic predisposition
familial hx of sudden death
left vent. wall thickness > 30 mm
Familial HCM genetic linkage
caused by different defects in genes encoding for sarcomeric proteins (myosin, actin, tropomyosin)
Familial HCM treatment
avoid strenuous exercise and competitive sports
this increases wall thickening
Familial HCM clinical présentation
leading cause of sudden cardiac death during exertion in adolescent children
Ellis-van Creveld Syndrome
inheritance pattern
autosomal recessive trait
Ellis-van Creveld Syndrome
genetic population
amish populations
Ellis-van Creveld Syndrome pathophys
characterized septal defects
Ellis-van Creveld Syndrome
clinical presentations
result in individual having single combined atrium
extra digits and dwarfism is associated with it
Ward-Romano Syndrome
inheritance patterns
autosomal dominant trait
Ward-Romano Syndrome
genetic linkage
at least 3 different genes have been identified
mutations can lead to this disease
Ward-Romano Syndrome
pathophysiology
long QT interval results from abnormal electrical conduction in heart leads to brief loss of consciousness and sudden death
Ward-Romano Syndrome
clinical presentations
long QT syndrome
types of hyperlipidemia syndromes discussed in class
familial hypercholestermia
familial combined hypercholesterolemia
familial hypercholesterolemia
defect in LDL receptor
autosomal dominant
genetic linkage of familial hypercholesterolemia
LDL receptor gene is located on short arm of chromosome 19
familial hypercholesterolemia pathophysiology
defect or decreased number of LDL receptors
causes severe elevations in total cholesterol and LDL cholesterol
familial hypercholesterolemia
carriers
high risk fro premature coronary artery disease/atherosclerosis at an early age
familial hypercholesterolemia
clinical presentations
ischemic heart disease/symptoms
premature CAD/severe hypercholesterolemia
untreated FH develops xanthomas on hand
