238 Cardiomyopathy and Myocarditis

Question 0

Frataxin defect

Answer 0

Friedrich ataxia

Question 1

Tafazzin defect affecting cardiolipin

Answer 1

Barth syndrome

Question 2

Alpha galactosidase A defect

Answer 2

Fabry’s disease

Question 3

Beta gluco cerebroside defect

Answer 3

Gaucher

Question 4

Disorder of lysosome metab: lysosome assoc membrane protein LAMP 2

Answer 4

Danon’s disease

Question 5

Glycogen storage dse: debranching enzyme

Answer 5

Forbes disease

Question 6

Desmoplakin defect causing aRVC

Answer 6

Carvajal syndrome

Question 7

Defect in RYR2 leads to

Answer 7

ARVC

Question 8

Alcohol consumption necessary to produce cardiomyopathy in an otherwise normal heart

Answer 8

Six drinks (4 ounces of pure ethanol)!daily for 5-10 years

Question 9

Mechanism of myocyte injury and fibrosis of anthracyclines

Answer 9

Generation of ROS involving heme co pounds

Question 10

Selenium deficiency causing cardiomyopathy

Answer 10

Keshan’s disease

Question 11

Causes restrictive cardiomyopathy but the presentation is dilated. Cardiomyopathy

Answer 11

Hemochromatosis

Question 12

Diagnosis of hemochromatosis

Answer 12

Iron and transferrin saturation
>60% men
>55-50 women

Question 13

Where is excess iron deposited in hemochromatosis

Answer 13

Perinuclear compartment

Question 14

Frequency of familial involvement in dilated cardiomyopathy

Answer 14

30%

Question 15

Abnormalities in the x-linked dystrophin gene of the sarcolemmal membrane

Answer 15

Duchenne’s
Becker’s
Muscular dystrophies

Question 16

Prominent family history of sudden cardiac death

Answer 16

Defects in desmosome proteins causing

Arrhythmogenic ventricular dysplasia

Question 17

Multiple trabeculations in the LV distal to papillary muscles, creating a “spongy” appearance of the apex

Answer 17

Left ventricular noncompaction

Question 18

Left ventricular noncompaction variants in protein

Answer 18

Tafazzin

Question 19

Therapy hemochromatosis

Answer 19

1. Repeated phleobotomy
2. Iron chelation
   - desferrioxamibe
   - deferasirox

Question 20

Cardiomyopathy

Occurs typically in older women after sudden intense emotional/physical stress

Answer 20

Tako tsubo cardiomyopathy

Question 21

Major cause of restrictive cardiomyopathy

Answer 21

Amyloidosis

Question 22

Familial amyloidosis mutation

Answer 22

Transthyretin

Question 23

Thickened ventricular walls in conjunction with Low voltage ECG

Answer 23

Amyloidosis

Question 24

Refractile brightness in the septum on 2d echo

Answer 24

Amyloidosis

Question 25

Lamp2 defect: Skeletal myopathy Mental retardation Hepatic dysfunction

Answer 25

Danon's disease

Question 26

Causes small vessel spasm and ischemia and leads to small stiff heart

Answer 26

Scleroderma

Question 27

Systolic anterior motion (SAM) of the mitral valve is a characteristic finding

Answer 27

Hypertrophic cardiomyopathy

Question 28

Risk factors for sudden death in hypertrophic cardiomyopathy

Answer 28

``` Septal wall thickness > 30 mm Hx of cardiac arrest or spontaneous VTach Syncope Spontaneous nonsutained VTach Exercise induced hypotension ```

Question 29

3rd most common parasitic infection in the world and Mc cause of cardiomyopathy

Answer 29

Chagas disease

Question 30

Defect in metabolic pathways assoc with CMP | Glucose metabolism defect

Answer 30

PRKAG2

Question 31

Defect in metabolic pathways assoc with CMP: | Abnormal transthyretin

Answer 31

Familial amyloidosis

Question 32

Pathogenic mechanism | Myocarditis in chagas disease

Answer 32

- myocyte lysis | - primary neuronal damage

Question 33

Features of typical chagas disease

Answer 33

Conduction system abnormalities - sinus node - av node - right bbb

Question 34

MC effective antiparasitic therapies chagas disease

Answer 34

Benznidazole | Nifurtimox

Question 35

Dx for chagas disease

Answer 35

ELISA for IgM | replaced complement fixation test

Question 36

West african form of trypanosomiasis

Answer 36

T brucei gambiense