Inherited cardiac conditions Flashcards
what do genes to
make proteins
three types of cardiomyopathies
hypertrophic
dilated
Restrictive
cardiomyopathy refers to?
primary heart muscle disease
what is HCM caused by
sarcomeric protein gene mutations such as gene encoding b myosin or myosin binding protein c
cause and pathology for hypertrophic CM
Inherited
thick non compliant heart = impaired diastolic filling as the inter ventricular septum thickens — decreased CO
characteristics of hypertrophic CM
Myofibrillar hypertrophy with chaotic and disorganised fashion myocytes and fibrosis on biopsy
symptoms, diagnosis and tx for hypertrophic cardiomyopathy
Sx - often asymptomatic , exertionak dyspnoea , syncope with exercise
SUDDEN DEATH in young patients
DX- echo, ecg
echo findings for hypertrophic cardiomyopathy
MR SAM ASH
mitral regurgitation (MR)
systolic anterior motion (SAM) of the anterior mitral valve leaflet
asymmetric hypertrophy (ASH)
ECG findings for hypertrophic cardiomyopathy
- left ventricle hypertrophy
- ## deep q waves
what is dilated cardiomyopathy often caused and its pathology
Most common CM leading to predominantly systolic function
all 4 chamoers dilated but LV more so
Idiopathic - most common cause
symptoms, dx and tx of dilated cardiomyopathy
SOB, heart failure, atrial fibrilation , thromboemboli
ECG, ECHO
Treat underlying cause
features of dilated cm
classic findings of heart failure
systolic murmur: stretching of the valves may result in mitral and tricuspid regurgitation
S3
‘balloon’ appearance of the heart on the chest x-ray
cause and pathology of restrictive cardiomyopathy
cause - granulomatous disease, idiopathic
path- rigid fibrotic myocardium, fills poorly and contracts poorly
symptoms, diagnosis and tx of restrictive cardiomyopathy
severe dyspnoea , S3 + S4 sounds, oedema
ECG, ECHO
none- consider transplant
white areas on HCM are
fibrosis