Diverse Flashcards by Emily Ross

Causes of congenital heart disease

Chromosomal (trisomies/monomies)
Microdeletions
Single gene mutations
Teratogens (e.g. rubella, alcohol)

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Chromosomal syndromes associated with congenital heart disease

Down syndrome (trisomy 21)

translocation
atrio-ventricular septal defects

Turner syndrome (45, X)
-coarctation of aorta

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Microdeletion syndromes associated with congenital heart disease

22q11 deletion syndrome
-outflow tract cardiac malformation

Williams syndrome
-supravalvular aortic coarctation

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Single gene mutation syndromes associated with congenital heart disease

Noonan syndrome
-pulmonary stenosis

Marfan syndrome
-aortic dilatation/dissection

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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

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Multifactorial inheritance

Many factors (environmental and genetic) are involved in causing a birth defect.

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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

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Relevance of a genetic diagnosis

More accurate prognosis
Lifestyle changes (e.g. sports)
More appropriate treatment

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Management of a family with a genetic diagnosis

Cascade screening

= systematic family tracing to identify people at risk of a genetic condition

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Management of Marfan syndrome

Beta blockers + ARBs (slow rate of dilatation)

Aortic root surgery

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DVT symptoms

(unilateral) limb swelling
Persistent discomfort
Calf tenderness

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DVT signs

Pitting oedema
Prominent collateral veins
Warmth
Redness (erythema)

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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

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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

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Pulmonary thromboembolism symptoms

common and massive

Pleuritic chest pain
Dyspnoea
Haemoptysis

MASSIVE PE:
Syncope
*May cause sudden death

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Pulmonary thromboembolism signs

common and massive

Tachycardia
Pleural rub (usually due to pulmonary infarction)

MASSIVE PE:
Central cyanosis
Hypotension
Raised JVP

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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

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Pulmonary thromboembolism management

common and massive

COMMON = ANTICOAGULATION ONLY:
Heparin
Warfarin
Direct oral anticoagulants

RESERVED FOR MASSIVE PE:
Thrombolysis
Pulmonary embolectomy

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Dilated cardiomyopathy pathophysiology

Muscle weakness = ↓ Ejection fraction, Ventricles dilate to maintain SV.
Atria dilate due to back-up of blood

↓Outflow of blood

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Restrictive cardiomyopathy pathophysiology

Reduced compliance of ventricle wall due to fibrosis or infiltration
Impairs diastolicmfilling.

↓Outflow of blood

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Hypertrophic cardiomyopathy pathophysiology

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Genetic abnormality = ↓ contraction ability = myocyte hypertrophy
= smaller ventricles (↓ filling/ diastolic heart failure)
narrowing of outflow tract

↓Outflow of blood

Dilated cardiomyopathy symptoms

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Dyspnoea
Weakness + Fatigue
Angina
Syncope

Orthopnoea
Paroxysmal Nocturnal Dyspnoea (PND)
Cough

Dilated cardiomyopathy signs

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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

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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 the pericardial cavity.

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

Diverse Flashcards

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