Quiz 2 Flashcards Preview

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Flashcards in Quiz 2 Deck (26):
1

HCM changes to the heart

LV hypertrophy, non-dilated

2

HCM Heart Pathology

Myocyte disarray with fibrosis/scarring

3

HCM Echo

LVH without dilated ventricle
Intracavity Hypertrophy
Outflow Obstruction

4

PRKAG2

HCM with conduction abnormalities
AD
Glycogen deposits in the heart

5

LAMP2

HCM with preexcitation, skeletal myopathy, retinal dystrophy, glycogen accumulation
XL

6

GLA

A-galactosidase deficiency
Angiokertamas, hypohidrosis, eye problems, pain with heat
XL

7

TTR

Cardiac amyloidosis- progressive restrictive cardiomyopathy
Nephropathy, neuropathy
AD

8

Risk of HCM with MYH7 mutation

40%

9

Risk of HCM with MYBPC3 mutation

40%

10

Risk of HCM with TNNT2 mutation

5%

11

Risk of HCM with TNNTI3 mutation

5%

12

Risk of HCM with TPN1 mutation

2%

13

DCM changes to heart

LV enlargement with systolic dysfunction

14

DCM heart pathology

Fibrosis

15

DCM echo

LV enlargement
Systolic dysfunction

16

Metabolic causes of adult onset DCM

Hemochromatosis
Mitochondrial disease

17

Muscular dystrophies that cause adult onset DCM

DMD
Limb Girdle
Emery Dreifuss

18

Genetic syndromes associated with childhood onset DCM

Muscular dystrophies
Barth
Naxos
Carvajal
Chromosmes

19

Barth syndrome

TAZ gene
HCM or DCM
Neutropenia
XLR

20

Naxos Syndrome

JUP gene
AR
Woolly hair, palmoplantar keratoderma

21

Carvajal Syndrome

DSP gene
AR
Woolly hair and keratoderma

22

ARVC changes to heart

Fibro-fatty replacement of the RV myocardium

23

Non-compaction cardiomyopathy

Myocardium with spongy appearance

24

Restrictive cardiomyopathy

Stiff heart muscle with no apparent dilation or hypertroph

25

Genetic testing recommended for:

LQT
CPVT
HCM
DCM
Sudden unexpected death

26

Genetic testing not recommended for:

Brugada
Short QT
ARVC
LNVC