Williams - Cardiomyopathy Flashcards
what is more common: acquired or genetic cardiomyopathy?
- Acquired
name some genetic forms of cardiomyopathy
- hypertrophic
- dilated
- arrhythmogenic RV
- Restrictive
- non-compction
When do you suspect familial dilated cardiomyopathy?
- when multiple members of same family affected, yet indistinguishable from other causes of Dilated cardiomyopathy
describe heart sound/apical impulse for familial dilated cardiomyopathy
- displaced apical impulse… third heart sound
what is genetic basis of familial dilated cardiomypathy
autosomal dominant, yet incomplete penetrance, causing sarcomeric mutations that cause FDCM later in life
what is ARVC
Arrhythmogenic Right Ventricular cardiomyopathy
ARVC is the result of mutations in _________
- pattern of inheritance
- desmosome proteins
autosomal dominant
what is diagnostic for ARVC
what to use to diagnose?
- aneurysms of RV wall due to dilation and weakening of RV
- MRI, showing fibro-fatty replacement of myocardium
what heart condiitons are ARVC patients prone to have?
- Ventricular tachycardia and sudden cardiac death due to arrythmias caused by the fibro-fatty replacement of myocardium
what is pathognomic EKG finding for ARVC
- 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
Define Restrictive Cardiomyopathy
- non-dilated and non-hypertrophied left ventricle… advanced diastolic dysfunction (STIFF)
Restrictive cardiomyopathy can either be acquired or genetic… when acquired, it’s called ____; when genetic, ______
- infiltrative (amyloid, sarcoid, prior radiation)
- idiopathic
What symptoms/signs do pts with restrictive cardiomyopathy present with?
those of congestive heart failure
Define Left ventricular noncompaction
- LV wall is noncompacted (looks spongy)… results in crypts and recesses
left ventricular noncompaction puts you at increased risk of _______
- LV dilation/heart failure
- thromboembolic events
dfine hypertrophic cardiomyopathy
- genetic disease caused my mutation in SARCOMERIC proteins… causes LV hypertrophy in the absence of another identifiable cause
pattern of inheritance of HOCM
- autosomal dominant with incomplete penetrance
most common affected portion of heart in HOCM is _____
interventricular septum, affecting it ASYMMETRICALLY
what is tell-tale histological sign of HOCM
- Myocyte disarray.. scattered throughout ventricle
describe systolic function of HOCM
- Normal or SUPRANORMAL
describe the obstruction of HOCM
DYNAMIC (because of suction effect)… you suck up the mitral valve against the septum because of the obstruction
what is the best maneuver to use to distinguish HOCM murmur from other systolic murmurs
- Squatting–> standing
- also valsalva
Increases intensity of murmur
What heart sounds would we hear in HOCM and when?
- Systolic murmur
- S4 (due to stiff LV) in late diastole
- murmur of mitral regurg (secondary to LVOT obstruction causing the suction effect)
- Bifid pulse
Describe the systolic murmur
harsh, late peaking systolic murmur (crescendo) … like a murmur of LATE PEAKING aortic stenosis
symptoms of HOCM
- dyspnea, angina, syncope (sudden death too)
- MANY are asymptomatic
for symptomatic patients, which is first-line therapy?
- beta blockers
- also use verapamil (ca channel blocker)
two procedures used for patients with HOCM
- surgical myectomy
2. alcohol septal ablation
what is issue with alcohol septal ablation
- lots of scarring present… you’re basically causing a heart attack
- puts you at a higher risk for ventricular rachycardia
as a general rule, as a preferred treatment for HOCM we would perform _________
surgical myectomy
name some risk factors for sudden death
- prior cardiac arrest
- sustained ventricular tachycardia
- family history of HCM-related sudden death
- repetitive syncope
- wall thickness >/= to 30 mm
ONLY NEED ONE
