hypertrophic cardiomyopathy Flashcards
what is hypertrophic cardiomyopathy?
an autosomal dominant disorder of muscle tissue caused by defects in the genes encoding contractile proteins resulting in hypertrophic LV
describe the genetics behind HCM
what is the pathophysiology of HCM?
- the most common defects involve a mutation in the gene encoding β-myosin heavy chain protein or myosin-binding protein C
- results in predominantly diastolic dysfunction
left ventricle hypertrophy → decreased compliance → decreased cardiac output - characterized by myofibrillar hypertrophy with chaotic and disorganized fashion myocytes (‘disarray’) and fibrosis on biopsy
what are the mutations seen in HCM?
what are the histology findings in HC<?
what are the clinical features of HCM?
what are more sever features of HCM?
how do arrhythmias occur in HCM?
what are the consequences?
how do outflow obstructions occur in HCM?
what are the consequences?
how do mitral valve problems occur in HCM?
what are the consequences?
what murmurs occur in HCM?
what are the consequences?
how do you differentiate between aortic stenosis in HCM using valsalva?
how do you differentiate between aortic stenosis in HCM using squatting?
how do you differentiate between aortic stenosis in HCM by raising legs?
how do you differentiate between aortic stenosis in HCM when standing ?
what re the associations with HCM and maternal diabetes?
what re the associations with HCM and friedreich’s ataxia?
what are other causes of cardiac hypertrophy?
what is fabry disease?
what is pompe disease?
