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What is the function of phosphocreatine in cardiac muscle tissue?
Allows mitochondrial ATP to be used in the cytosol
Familial hypercholesterolaemia is caused by mutations in what gene that code for a receptor?
This receptor is involved in extracting cholesterol from LDL or HDL?
What are the clinical criteria for diagnosis/signs & symptoms?
apoB/E gene
LDL
LDL >500mg/dL untreated or >300mg/dL treated + cutaneous/tendon nodules <10yo
What sort of murmur does mitral regurgitation give?
What sort fo murmur does aortic stenosis give?
Pan-systolic murmur
Ejection systolic murmur
Is S3 or S4 a ventricle gallop heart sound?
What intensifies these heart sounds?
What is S3 found in?
What is S4 found in?
S3 = ventricle. S4 = atrial gallop
Exercise or sustained hand grip
Severe chronic mitral regurgitation, dilated cardiomyopathy diastolic HF
HTN heart disease, aortic stenosis & hypertrophic cardiomyopathy
What causes a mid-diastolic murmur with opening snap?
What position increases the sound of this murmur?
Mitral stenosis
Left lateral
What sort of murmur does a PDA cause? Why? Diagnosis? When is early operative closure recommended? % that close spontaneously?
Machinery aortic pressure higher -> continuous flow through the ductus Clinical findings + echo Defect persisted over 6 months 50%
Ascites, swollen ankles and raised JVP - what does this indicate?
Right sided heart failure
Weak pulse with slow upstroke on carotid artery palpating - what is most likely causing this?
What are the common signs and symptoms for this disease?
What is the treatment?
Aortic stenosis
Heart failure, angina, syncope, heaving apex beat
Treatment = minor medical role, primarily the is need for aortic valve replacement
Opening snap and rumbling mid-diastolic murmur - what disease causes this?
What is the usual presentation?
What s the management for this?
Mitral stenosis
Exertional dyspnoea/decrease exercise tolerance
Follow-up echo’s 1-5yearly depending on severity
Warfarin, beta blocker + diuretic if symptomatic
Valve replacement if severe + symptoms
What are 3 structural causes of left ventricle hypertrophy?
What causes Right atrial enlargement?
What is the chance of this closing?
VSD
PDA
Coarctation of the aorta
Right atrial = ASD, 80% if <8mm
What are the 5 signs and symptoms of left atrial myxoma?
AF Apical end diastolic murmur Circulating immunoglobulins Syncope Systeic embolism
What is the pathophysiology behind giant ‘A’ waves?
What is Kussmaul’s sign and what can it indicate?
Poorly compliant right ventricle OR tricuspid stenosis causes increased pressure against which the right atrium has to eject blood.
Kuss = rise in JVP with inspiration
Can indicate constrictive pericarditis
What is Dressler’s syndrome?
What is the cause?
Pericarditis that occurs 2-6wks after anterior myocardial infarction or heart surgery
Cause = autoimmune response to myocardial antigens
What sort of shunting causes cerebral abscesses?
Right to left shifts
What are the signs of cardiac failure in an infant?
HR >180
RR >30
Hepatomegaly
Excessive perspiration
What is the most common cause of cyanotic congenital heart disease?
What are the signs of this disease?
Tetralogy of Fallot! Pulmonary valve stenosis Overriding aorta Right ventricle hypertrophy Ventricle septal defect
What classifies murmurs as innocent on examination?
What does fixed splitting of the 2nd heart sound indicate?
What does a murmur radiating to the axilla imply?
What is the murmur of aortic incompetence?
Short duration and vary with posture
Atrial septal defect
Mitral incompetence
High-pitched early diastolic murmur best heard at the lower left sternal edge with the patient leaning forward with breath held in expiration
When do VSD’s present in a new born?
What would a chest x-ray show?
Do they require surgery?
What does central cyanosis indicate?
After 1st month of life
Pulmonary plethora
No, most cases resolve spontaneously
Reversal of the shunt and pulmonary hypertension
What is more common in Down’s infants: VSD or atrio-ventricular septal defect?
How is this treated?
Atrio-ventricular septal defect
Surgically