Williams - Cardiomyopathy

Question 1

what is more common: acquired or genetic cardiomyopathy?

Answer 1

• Acquired

Question 2

name some genetic forms of cardiomyopathy

Answer 2

1. hypertrophic
2. dilated
3. arrhythmogenic RV
4. Restrictive
5. non-compction

Question 3

When do you suspect familial dilated cardiomyopathy?

Answer 3

• when multiple members of same family affected, yet indistinguishable from other causes of Dilated cardiomyopathy

Question 4

describe heart sound/apical impulse for familial dilated cardiomyopathy

Answer 4

• displaced apical impulse… third heart sound

Question 5

what is genetic basis of familial dilated cardiomypathy

Answer 5

autosomal dominant, yet incomplete penetrance, causing sarcomeric mutations that cause FDCM later in life

Question 6

what is ARVC

Answer 6

Arrhythmogenic Right Ventricular cardiomyopathy

Question 7

ARVC is the result of mutations in _________

• pattern of inheritance

Answer 7

• desmosome proteins

autosomal dominant

Question 8

what is diagnostic for ARVC

what to use to diagnose?

Answer 8

• aneurysms of RV wall due to dilation and weakening of RV

- MRI, showing fibro-fatty replacement of myocardium

Question 9

what heart condiitons are ARVC patients prone to have?

Answer 9

• Ventricular tachycardia and sudden cardiac death due to arrythmias caused by the fibro-fatty replacement of myocardium

Question 10

what is pathognomic EKG finding for ARVC

Answer 10

• Epsilon waves; look for the precordial leads that sit over right ventricle… blip in ST segment due to late depolarization in right ventricle as it has to work through fibro-fatty myocardium

SPECIFIC, NOT SENSITIVE

Question 11

Define Restrictive Cardiomyopathy

Answer 11

• non-dilated and non-hypertrophied left ventricle… advanced diastolic dysfunction (STIFF)

Question 12

Restrictive cardiomyopathy can either be acquired or genetic… when acquired, it’s called ____; when genetic, ______

Answer 12

• infiltrative (amyloid, sarcoid, prior radiation)

- idiopathic

Question 13

What symptoms/signs do pts with restrictive cardiomyopathy present with?

Answer 13

those of congestive heart failure

Question 14

Define Left ventricular noncompaction

Answer 14

• LV wall is noncompacted (looks spongy)… results in crypts and recesses

Question 15

left ventricular noncompaction puts you at increased risk of _______

Answer 15

• LV dilation/heart failure

- thromboembolic events

Question 16

dfine hypertrophic cardiomyopathy

Answer 16

• genetic disease caused my mutation in SARCOMERIC proteins… causes LV hypertrophy in the absence of another identifiable cause

Question 17

pattern of inheritance of HOCM

Answer 17

• autosomal dominant with incomplete penetrance

Question 18

most common affected portion of heart in HOCM is _____

Answer 18

interventricular septum, affecting it ASYMMETRICALLY

Question 19

what is tell-tale histological sign of HOCM

Answer 19

• Myocyte disarray.. scattered throughout ventricle

Question 20

describe systolic function of HOCM

Answer 20

• Normal or SUPRANORMAL

Question 21

describe the obstruction of HOCM

Answer 21

DYNAMIC (because of suction effect)… you suck up the mitral valve against the septum because of the obstruction

Question 22

what is the best maneuver to use to distinguish HOCM murmur from other systolic murmurs

Answer 22

• Squatting–> standing
• also valsalva

Increases intensity of murmur

Question 23

What heart sounds would we hear in HOCM and when?

Answer 23

• Systolic murmur
• S4 (due to stiff LV) in late diastole
• murmur of mitral regurg (secondary to LVOT obstruction causing the suction effect)
• Bifid pulse

Question 24

Describe the systolic murmur

Answer 24

harsh, late peaking systolic murmur (crescendo) … like a murmur of LATE PEAKING aortic stenosis

Question 25

symptoms of HOCM

Answer 25

• dyspnea, angina, syncope (sudden death too)

- MANY are asymptomatic

Question 26

for symptomatic patients, which is first-line therapy?

Answer 26

• beta blockers

- also use verapamil (ca channel blocker)

Question 27

two procedures used for patients with HOCM

Answer 27

1. surgical myectomy

2. alcohol septal ablation

Question 28

what is issue with alcohol septal ablation

Answer 28

• lots of scarring present… you’re basically causing a heart attack
• puts you at a higher risk for ventricular rachycardia

Question 29

as a general rule, as a preferred treatment for HOCM we would perform _________

Answer 29

surgical myectomy

Question 30

name some risk factors for sudden death

Answer 30

1. prior cardiac arrest
2. sustained ventricular tachycardia
3. family history of HCM-related sudden death
4. repetitive syncope
5. wall thickness >/= to 30 mm

ONLY NEED ONE