Cardiomyopathies

Question 1

Chagas’ disease -D (4)

Answer 1

– Protozoan infection Trypanosoma cruzi
– affects, heart, esophagus, colon.
- acute phase with fever, myalgias, hepatosplenomegaly, myocarditis.
- Apical aneurysm. 

Question 2

Duchenne’s myotonic dystrophy - D (4)

Answer 2

• inherited myopathic disorder affecting both skeletal/cardiac muscle.
  – can have asymptomatic LV dysfunction b/c limited physical activity.
• HF and arrhythmias seen
  – looks like dilated cardiomyopathy. 

Question 3

Fabry’s disease - H (4)

Answer 3

– Inherited, X-linked glycolipid storage disease.
– presents in women later with unexplained LV hypertrophy
– dx by plasma alpha – galactosidase A activity.
– conduction system abnormalities and arrhythmias common. 

Question 4

Amyloid -R (8)

Answer 4

– Extracellular, tissue deposition of serum protein, subunit, fibrils
– 50% cardiac involvement in primary AL amyloidosis/monoclonal light chains
– 5% with secondary a a amyloid
– conduction system disease.
– myocardial involvement.
– progressive diastolic dysfunction.
– valve thickening.
– strain pattern with preserved apical function. 

Question 5

Sarcoidosis – R (5)

Answer 5

– Systemic disease + pulmonary involvement.
– subclinical cardiac involvement up to 20%
– conduction system, abnormalities, ventricular arrhythmia‘s, HF
– non-coronary disease pattern with regional WMA.
– both systolic/diastolic dysfunction. 

Question 6

LV compaction (5)

Answer 6

– Rare, primary genetic, CM
– HF, angina, arrhythmias, thromboembolic events.
- deep ventricular trabeculations/hypokinesis, particularly inferior/lateral walls.
– EF may be reduced.
- Non-compacted: compacted myocardium, > 2:1 at end systole in short axis view.

Question 7

Takotsubo

Answer 7

> 80% of cases are women, typically 50–75 years.
– apical dilatation, systolic dysfunction = significant reduction EF

Question 8

ARVD/ARVCM (5)

Answer 8

– Familial inheritance at least 30%
– fibrofatty replacement of RV, most often AD pattern.
– presents with SCD or ventricular arrhythmia’s
– Echo findings nonspecific
– needs MRI and EP evaluation. 

Question 9

Restrictive cardiomyopathy

Answer 9

– diastolic>systolic dysfunction.
– later systolic dysfunction.
– pulmonary systolic pressure usually moderate/severe elevation.

Question 10

Hemachromatosis

Answer 10

One of the few restrictive cardiomyopathy is reversible with treatment.
Single mutation in the HFE gene located on chromosome 6 at position 282 of the HFE protein.
Normal LV wall thickness, + LV dilatation

Question 11

Fabry dz imaging/thx

Answer 11

2-Layered or binary appearance in the endocardium of the LV.
(Likely deposits of glycosphingolipid)
CMR with late gadolinium enhancement, basilar inferio-lateral wall.
Enzyme replacement therapy early in disease, can reduce LV, hypertrophy and improvement in function.

Question 12

Endomyocardial fibrosis

Answer 12

Endocardium fibrosis, especially at the apices of the LV/RV-distinctive 2D appearance
Tropical
Can have exudative ascites without peripheral edema.
Exudative pericardial, effusion common.

Question 13

Radiation cardiotoxicity

Answer 13

Can present as either restriction CM or constrictive pericarditis
My cardio fibrosis >right than left

Question 14

Idiopathic restrictive CM

Answer 14

Biopsy necessary to rule out others.
Medical treatment.

Question 15

Cardiac sarcoidosis

Answer 15

Wall motion abnormalities not in coronary anatomy distribution.
Arrhythmias.
AV block.
Check echo and Holter then CMR if first two are abnormal.

Question 16

Hypeosinophilic syndrome

Answer 16

Eosinophilia >1500 on at least two separate occasions.
No parasites or allergies
Direct damage to the heart muscle from eosinophils.
Can see fibrosis of both RV/LV apices, thickening of posterior mitral valve leaflet/posterior wall.
Specific, chromosomal alteration can respond to Imatinib