Diverse Flashcards
Causes of congenital heart disease
Chromosomal (trisomies/monomies)
Microdeletions
Single gene mutations
Teratogens (e.g. rubella, alcohol)
Chromosomal syndromes associated with congenital heart disease
Down syndrome (trisomy 21)
- translocation
- atrio-ventricular septal defects
Turner syndrome (45, X) -coarctation of aorta
Microdeletion syndromes associated with congenital heart disease
22q11 deletion syndrome
-outflow tract cardiac malformation
Williams syndrome
-supravalvular aortic coarctation
Single gene mutation syndromes associated with congenital heart disease
Noonan syndrome
-pulmonary stenosis
Marfan syndrome
-aortic dilatation/dissection
Long QT syndrome
An inherited mutation affecting myocyte repolarisation
= increased risk of arrhythmias which can result in sudden cardiac death
*Important to genetically test family members who can then be treated
Multifactorial inheritance
Many factors (environmental and genetic) are involved in causing a birth defect.
Types of genetic cardiac disease
Cardiovascular Connective Tissue Disease
e.g. Marfan syndrome
Familial Arrhythmias (↑ risk sudden cardiac death) e.g. Long QT, Brugada
Familial Cardiomyopathies
e.g. Hypertrophic cardiomyopathy, Dilated cardiomyopathy
Relevance of a genetic diagnosis
More accurate prognosis
Lifestyle changes (e.g. sports)
More appropriate treatment
Management of a family with a genetic diagnosis
Cascade screening
= systematic family tracing to identify people at risk of a genetic condition
Management of Marfan syndrome
Beta blockers + ARBs (slow rate of dilatation)
Aortic root surgery
DVT symptoms
(unilateral) limb swelling
Persistent discomfort
Calf tenderness
DVT signs
Pitting oedema
Prominent collateral veins
Warmth
Redness (erythema)
DVT investigations
Pre-test probability score (Wells score)
D-dimer blood test (A breakdown product of cross-linked fibrin)
Compression ultrasound: If a thrombus is present, the vein is not compressible with the ultrasound probe
DVT management
AIM: To prevent clot extension, embolization and recurrence
ANTICOAGULATION:
Heparin
Warfarin
Direct oral anticoagulants (DOACs)
PREVENTION IN HOSPITAL:
Early mobilisation
Mechanical and pharmacological thrombophrophylaxis
Pulmonary thromboembolism symptoms
common and massive
Pleuritic chest pain
Dyspnoea
Haemoptysis
MASSIVE PE:
Syncope
*May cause sudden death
Pulmonary thromboembolism signs
common and massive
Tachycardia Pleural rub (usually due to pulmonary infarction)
MASSIVE PE:
Central cyanosis
Hypotension
Raised JVP
Pulmonary thromboembolism investigations
Pre-test probability (Wells/ Geneva score)
V/Q scan: Low perfusion in PE
CT pulmonary angiogram: Shows occlusion of pulmonary artery
D-dimer: High
ECG: Tachycardia
Blood Gases: ↓PCO2 + Hypoxia
Pulmonary thromboembolism management
common and massive
COMMON = ANTICOAGULATION ONLY:
Heparin
Warfarin
Direct oral anticoagulants
RESERVED FOR MASSIVE PE:
Thrombolysis
Pulmonary embolectomy
Dilated cardiomyopathy pathophysiology
Muscle weakness = ↓ Ejection fraction, Ventricles dilate to maintain SV.
Atria dilate due to back-up of blood
↓Outflow of blood
Restrictive cardiomyopathy pathophysiology
Reduced compliance of ventricle wall due to fibrosis or infiltration
Impairs diastolicmfilling.
↓Outflow of blood
Hypertrophic cardiomyopathy pathophysiology
Genetic abnormality = ↓ contraction ability = myocyte hypertrophy
= smaller ventricles (↓ filling/ diastolic heart failure)
narrowing of outflow tract
↓Outflow of blood
Dilated cardiomyopathy symptoms
Dyspnoea
Weakness + Fatigue
Angina
Syncope
Orthopnoea
Paroxysmal Nocturnal Dyspnoea (PND)
Cough
Dilated cardiomyopathy signs
Oedema
↑HR
↑ JVP
S3 heart sound
Poor superficial perfusion Thready pulse (barely palpable, rapid) Narrow pulse pressure Displaced apex beat MR murmur Pleural effusion Hepatomegaly Arrhythmias (conduction pathways can become dysfunctional)
Hypertrophic cardiomyopathy symptoms
Can be asymptomatic Dyspnoea Weakness + Fatigue Angina Syncope Sudden death
Worse on exertion
Hypertrophic cardiomyopathy signs
Oedema
↑JVP
↑HR
S4 heart sound
Notched pulse pattern
Double impulse over apex
Thrills
Systolic ejection murmur - increases w/ Valsalva manoeuvre
Myocarditis clinical presentation
Fatigue
Dyspnoea
Maybe fever
May be signs of heart failure
Myocarditis pathophysiology
Acute or chronic inflammation of the myocardium.
Can impair myocardial function/ conduction and generate arrhythmia.
Pericarditis pathophysiology
Inflammation of the pericardial layers with or without myocardial involvement
Genetic basis of hypertrophic cardiomyopathy
> 1500 mutations
Sarcomere gene defect
Autosomal dominant
Treatment of dilated cardiomyopathy
Treatment of cause
Oedema treatment:
- Low salt diet
- Diuretics, e.g. Spironolactone
- ACEIs (+ ↑ outflow by ↓afterload)
Decrease heart’s workload:
- β-blockers
- CCBs
- Digoxin
ICD(Implantable cardioverter defibrillator)
Pacemaker
Transplant
Treatment of restrictive cardiomyopathy
Oedema treatment:
- Low salt diet
- Diuretics (use is limited as low filling pressures cause problems)
- ACEIs (+ ↑ outflow by ↓afterload)
ICD (Implantable cardioverter defibrillator)
Pacemaker
Transplant
Treatment of hypertrophic cardiomyopathy
Avoid heavy exercise
Avoid dehydration
Explore FH and first degree relatives
β-blockers + CCBs: ↓HR = ↑ Filling time
Septal reduction
Transplant
Treatment of myocarditis/ pericarditis
Treatment/ removal of cause
Treatment for resulting heart failure/ arrhythmias
Supportive care:
- limit physical activity
- elevate head of bed
- O2 therapy
Medical therapy:
- Antibiotics
- Anti-inflammatories: NSAIDs, Colchicine, steroids
- Anti-hypertensives
Interventions:
- Extracorporeal Membrane Oxygenation (ECMO)
pericardial effusion pathophysiology
Abnormal accumulation of fluid in thepericardialcavity.
constrictive pericarditis pathophysiology
Thickened, fibrotic pericardium
= impaired ventricular filling
Aortic dissection
Tearing of the inner wall of the aorta allowing blood to flow between the layers of the aortic wall, forcing the layers apart
Causes of aortic dissection
Marfan’s syndrome
Trauma
Atherosclerosis
Hypertension
Aortic dissection symptoms
Tearing, severe chest pain (radiating to back)
Collapse
Aortic dissection signs
Reduced or absent peripheral pulses
Hypotension/ hypertension
Soft early diastolic murmur (AR)
Pulmonary oedema
Aortic dissection investigations
CXR: Widened mediastinum
Echocardiogram/CT
ECG: Inferior ST elevation
Aortic dissection treatment
Surgery
Meticulous blood pressure control
Signs of aortic coarction
Cold legs
Poor leg pulses
Before left sub-clavian artery:
- Radial-radial delay
- Right radial-femoral delay
After left sub-clavian artery:
-Right and left radial-femoral delay
Symptoms of aortic coarction
Infancy (severe):
- Heart failure
- Failure to thrive
Later life:
- Hypertension
Risk factors for DVT and PE
Surgery(esp. abdominal), Late pregnancy, Reduced mobility, Varicose veins, Hypertension, COPD, Fracture, Hip/knee replacement, Abdominal/pelvic malignancy, Obesity, OCP,
General signs of cardiomyopathy
Oedema
↑HR
↑ JVP
Cardiac tamponade
Fluid in the pericardial cavity resulting in compression of the heart
Restrictive cardiomyopathy symptoms
Dyspnoea
Weakness + Fatigue
Angina
Syncope
*Symptoms of heart failure
Restrictive cardiomyopathy signs
Oedema
↑HR
↑JVP
S4 heart sound
Arrhythmias (conduction pathways can become dysfunctional)
General symptoms of cardiomyopathies
Dyspnoea
Weakness + Fatigue
Angina
Syncope
Marfan syndrome
Multisystem connective tissue disorder caused by a mutation on the fibrillin 1 gene.
Autosomal dominant
