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KCSU17 Genetics > Heart Disease and Lipidemia > Flashcards

Heart Disease and Lipidemia Flashcards

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1
Q

both DCM and HCM result in reduced blood output BUT

A

via different mechanisms

DCM= heart too large 
HCM= heart is too small
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2
Q

DCM

A

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)

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3
Q

HCM

A

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)

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4
Q

Familial HCM inheritance patterns

A

autosomal dominant

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5
Q

prevalence of Familial HCM

A

0.0.5-0.2% of population

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6
Q

Familial HCM age of onset

A

presentation and severity of disease are variable

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7
Q

Familial HCM genetic predisposition

A

familial hx of sudden death

left vent. wall thickness > 30 mm

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8
Q

Familial HCM genetic linkage

A

caused by different defects in genes encoding for sarcomeric proteins (myosin, actin, tropomyosin)

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9
Q

Familial HCM treatment

A

avoid strenuous exercise and competitive sports

this increases wall thickening

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10
Q

Familial HCM clinical présentation

A

leading cause of sudden cardiac death during exertion in adolescent children

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11
Q

Ellis-van Creveld Syndrome

inheritance pattern

A

autosomal recessive trait

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12
Q

Ellis-van Creveld Syndrome

genetic population

A

amish populations

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13
Q

Ellis-van Creveld Syndrome pathophys

A

characterized septal defects

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14
Q

Ellis-van Creveld Syndrome

clinical presentations

A

result in individual having single combined atrium

extra digits and dwarfism is associated with it

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15
Q

Ward-Romano Syndrome

inheritance patterns

A

autosomal dominant trait

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16
Q

Ward-Romano Syndrome

genetic linkage

A

at least 3 different genes have been identified

mutations can lead to this disease

17
Q

Ward-Romano Syndrome

pathophysiology

A

long QT interval results from abnormal electrical conduction in heart leads to brief loss of consciousness and sudden death

18
Q

Ward-Romano Syndrome

clinical presentations

A

long QT syndrome

19
Q

types of hyperlipidemia syndromes discussed in class

A

familial hypercholestermia

familial combined hypercholesterolemia

20
Q

familial hypercholesterolemia

A

defect in LDL receptor

autosomal dominant

21
Q

genetic linkage of familial hypercholesterolemia

A

LDL receptor gene is located on short arm of chromosome 19

22
Q

familial hypercholesterolemia pathophysiology

A

defect or decreased number of LDL receptors

causes severe elevations in total cholesterol and LDL cholesterol

23
Q

familial hypercholesterolemia

carriers

A

high risk fro premature coronary artery disease/atherosclerosis at an early age

24
Q

familial hypercholesterolemia

clinical presentations

A

ischemic heart disease/symptoms

premature CAD/severe hypercholesterolemia

untreated FH develops xanthomas on hand

25
Q

heterozygous FH

A

affects 1/500

men more likely to develop symptoms by 4th decade (10-15 yrs later in women)

severe hypercholesteremia dating back to childhood

26
Q

homozygous FH

A

1/1mill (more rare and severe)

may occur as young as 1-2 yrs old

severe and widespread atherosclerosis and valve abnormalities

27
Q

familial combined hypercholesterolemia

A

most common genetic dyslipidemia

high levels of serum triglycerides

28
Q

familial combined hypercholesterolemia prevalence/age of onset

A

under 60

29
Q

familial combined hypercholesterolemia genetic linkages

A

multiple genes and environmental factors

mutations of genes encoding for apolipoprotein B-100 (LDL) causing increased LDL

E2 alleles and E4 alleles

30
Q

e2 alleles and FCH

A

good

characterized by 10% lower than average cholesterol

31
Q

e4 alleles and FCH

A

bad

characterized by 10% higher than average cholesterol

32
Q

FCH pathophys

A

high levels of serum triglycerides

KCSU17 Genetics (14 decks)

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