WEEK 10 Flashcards
Understand the genetics and molecular pathology of congenital heart disease.
This can include conditions like:
- ventricular septal defects,
- atrial septal defects,
Understand the importance of single gene, chromosomal and microdeletion syndromes.
Single gene disorders occur when mutations take place in the DNA sequence of a single gene. Examples:
- Marfan syndrome (💭 LINCON!! - Tall, slender, long face)
- Fibrillin 1 gene
- autosomal dominant
- tendency to develop aortic anneurysms
Chromosomal syndromes occur when there are missing or additional chromosomes, or when there are alterations to the structure of the chromosomes.
- Down syndrome
- Trisomy 21
- Atrioventricular septal defect
Understand the pathophysiology and natural history of MITRAL STENOSIS
- Atrium - ventricle pressure gradient increases
- Left atrial pressure increases
- Pulmonary venous and capillary pressures increase
- Pulmonary vascular resistance increases
- Pulmonary artery pressure increases and pulmonary hypertension develops
- Right heart dilatation with tricuspid regurgitation and pulmonary regurgitation
- LEFT VENTRICLE pressures and systolic function normal
Describe the common clinical features of MITRAL STENOSIS
- Dyspnoea: mild exertion to pulmonary oedema
- Haemoptisis: rupture of thin walled veins
- Systemic embolisation: Left atrium and left atrial appendage enlargement
- Infective endocarditis
- Chest pain
- Hoareness
List the diagnostic investigations appropriate for MITRAL STENOSIS
- Mitral facies
- Pulse: normal
- JVP: prominent a wave
- Tapping apex beat and diastolic thrill
- RV heave
- Auscultation
- ECG: P wave >0.12sec
- CXR: LA enlargement
- Echocardiogram: thickening and scarring of the leaflets
Understand the pathophysiology and natural history of MITRAL REGURGITATION
- Effective resurgent orifice: not fixed which is dependent on:
- Preload
- Afterload
- Left ventricle contractility
- Left ventricle compensation
- Acute: End systolic pressure increases and end systolic volume decreases
- Chronic: End diastolic volume increases and end systolic volume returns to normal
Describe the common clinical features of MITRAL REGURGITATION
Acute mitral valve regurgitation
= breathlessness: pulmonary oedema, cardiogenic shock
Chronic mitral valve regurgitation
= fatigue, exhaustion (low cardiac output), right heart failure, dyspnoea or palpitations due to AF
List the diagnostic investigations appropriate for MITRAL REGURGITATION
- Pulse: normal or reduced
- Increased JVP
- Risk and hyperdynamic apex beat
- RV heave
- Auscultation
- ECG - LA enlargement (P wave > 0.12 seconds
- CXR - cardiomegaly, LA enlargement, calcification of mitral annulus
- Echocardiogram - LV dimensions
Understand the pathophysiology and natural history of AORTIC STENOSIS
CAUSED BY EITHER:
- RHEUMATIC HEART DISEASE
- DEGENERATIVE HEART DISEASE
- Increased LV systolic pressure
- Severe concentric hypertrophy and increased LV mass
- Increased LVEDP
- Increased MV02
- Myocardial ischaemia
- LV failure
Describe the common clinical features of AORTIC STENOSIS
- Long asymptomatic phase
- Chest pain (angina)
- Syncope/dizziness
- Breathlessness on exertion
- Heart failure
List the diagnostic investigations appropriate for AORTIC STENOSIS
- Pulse - small volume and slowly rising
- JVP - prominent if RH failure present, low BP
- Vigorous and sustained apex beat
- RV heave
- Auscultation
ECG - LVH voltage criteria, ST/T changes
CXR - calcification of AV
Echocardiogram - demonstrated the AV cusp mobility, LV function and hypertrophy
CMR
Understand the pathophysiology and natural history of AORTIC REGURGITATION
- Increased LVEDV and LV systolic pressure
- LV hypertrophy and LV dilation
- Increased MVO2
- Myocardial ischaemia
- LV failure
Describe the common clinical features of ATRIAL REGURGITATION
ACUTE AR:
- Pulse: large volume and collapsing
- Wide pulse pressure
- Hyperdynamic: displaced apex beat
- Auscultation
CHRONIC AR:
- long asymptomatic phase
- breathlessness on exertion
List the diagnostic investigations appropriate for AORTIC REGURGITATION
ECG - ST/T changes (LV strain), LAD
CXR - cardiomegaly in chronic AR
Echocardiogram - AV cusp, LV function
CMR
Understand the treatment options available as well as their limitations (mitral stenosis/regurgitation, atrial stenosis/regurgitation)
MITRAL STENEOSIS
- Diuretics and restriction of Na intake
- AF: restore sinus rhythm or ventricular rate control
- Anticoagulation: all those with AF, debatable for sinus rhythm
- Valvotomy (balloon vs surgical)
- MVR
MITRAL REGURGITATION
ACUTE MR:
- vasodilators
INTERVENTIONAL TREATMENT
- mitral valve apparatus repair
- mitral valve replacement
ATRIAL STENOSIS
Aortic vavlve replacement or repair
ATRIAL REGURGITATION
Vasodilation therapy
Aortic valve replacement or repair