Hypertrophic Cardiomyopathy

Question 1

Caused by..

Answer 1

hypertrophy of cardiac myocytes.

Mostly a disease of the sarcomere.

Question 2

Genetics

Answer 2

Genetic: AD, genetic heterogeneity, incomplete penetrance.

Mostly missense mutations. But mechanism not well understood.

Question 3

Cellular consequences

Answer 3

Cardiomyocyte and cardiac hypertrophy. (organ hypertrophy)

Myocyte disarray. (fx. compromised)

Interstitial and replacement fibrosis. (propensity to arrhythmia)
Dysplastic intramyocardial arterioles (ischemia)

Question 4

Phenotype

Answer 4

Cardiac murmur (if LV outflow obstruction)
Cardiac ‘Pump’ Failure (dyspnea, angina)
Arrhythmia (syncope/sudden death)
Sports/Family screening

But many are asymptomatic. Some experience some symptoms. Some have sudden death.

Question 5

How to diagnose

Answer 5

Echocardiogram, EKG, MRI, family hx, genetic testing, chest x-ray