Diverse Flashcards

1
Q

Causes of congenital heart disease

A

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

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2
Q

Chromosomal syndromes associated with congenital heart disease

A

Down syndrome (trisomy 21)

  • translocation
  • atrio-ventricular septal defects
Turner syndrome (45, X)
-coarctation of aorta
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3
Q

Microdeletion syndromes associated with congenital heart disease

A

22q11 deletion syndrome
-outflow tract cardiac malformation

Williams syndrome
-supravalvular aortic coarctation

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4
Q

Single gene mutation syndromes associated with congenital heart disease

A

Noonan syndrome
-pulmonary stenosis

Marfan syndrome
-aortic dilatation/dissection

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5
Q

Long QT syndrome

A

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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6
Q

Multifactorial inheritance

A

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

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7
Q

Types of genetic cardiac disease

A

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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8
Q

Relevance of a genetic diagnosis

A

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

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9
Q

Management of a family with a genetic diagnosis

A

Cascade screening

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

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10
Q

Management of Marfan syndrome

A

Beta blockers + ARBs (slow rate of dilatation)

Aortic root surgery

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11
Q

DVT symptoms

A

(unilateral) limb swelling
Persistent discomfort
Calf tenderness

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12
Q

DVT signs

A

Pitting oedema
Prominent collateral veins
Warmth
Redness (erythema)

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13
Q

DVT investigations

A

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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14
Q

DVT management

A

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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15
Q

Pulmonary thromboembolism symptoms

common and massive

A

Pleuritic chest pain
Dyspnoea
Haemoptysis

MASSIVE PE:
Syncope
*May cause sudden death

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16
Q

Pulmonary thromboembolism signs

common and massive

A
Tachycardia
Pleural rub (usually due to pulmonary infarction)

MASSIVE PE:
Central cyanosis
Hypotension
Raised JVP

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17
Q

Pulmonary thromboembolism investigations

A

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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18
Q

Pulmonary thromboembolism management

common and massive

A

COMMON = ANTICOAGULATION ONLY:
Heparin
Warfarin
Direct oral anticoagulants

RESERVED FOR MASSIVE PE:
Thrombolysis
Pulmonary embolectomy

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19
Q

Dilated cardiomyopathy pathophysiology

A

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

↓Outflow of blood

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20
Q

Restrictive cardiomyopathy pathophysiology

A

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

↓Outflow of blood

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21
Q

Hypertrophic cardiomyopathy pathophysiology

A

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

↓Outflow of blood

22
Q

Dilated cardiomyopathy symptoms

A

Dyspnoea
Weakness + Fatigue
Angina
Syncope

Orthopnoea
Paroxysmal Nocturnal Dyspnoea (PND)
Cough

23
Q

Dilated cardiomyopathy signs

A

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)
24
Q

Hypertrophic cardiomyopathy symptoms

A
Can be asymptomatic
Dyspnoea
Weakness + Fatigue
Angina
Syncope
Sudden death

Worse on exertion

25
Q

Hypertrophic cardiomyopathy signs

A

Oedema
↑JVP
↑HR
S4 heart sound

Notched pulse pattern
Double impulse over apex
Thrills
Systolic ejection murmur - increases w/ Valsalva manoeuvre

26
Q

Myocarditis clinical presentation

A

Fatigue
Dyspnoea
Maybe fever

May be signs of heart failure

27
Q

Myocarditis pathophysiology

A

Acute or chronic inflammation of the myocardium.

Can impair myocardial function/ conduction and generate arrhythmia.

28
Q

Pericarditis pathophysiology

A

Inflammation of the pericardial layers with or without myocardial involvement

29
Q

Genetic basis of hypertrophic cardiomyopathy

A

> 1500 mutations
Sarcomere gene defect
Autosomal dominant

30
Q

Treatment of dilated cardiomyopathy

A

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

31
Q

Treatment of restrictive cardiomyopathy

A

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

32
Q

Treatment of hypertrophic cardiomyopathy

A

Avoid heavy exercise
Avoid dehydration
Explore FH and first degree relatives

β-blockers + CCBs: ↓HR = ↑ Filling time

Septal reduction
Transplant

33
Q

Treatment of myocarditis/ pericarditis

A

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)

34
Q

pericardial effusion pathophysiology

A

Abnormal accumulation of fluid in thepericardialcavity.

35
Q

constrictive pericarditis pathophysiology

A

Thickened, fibrotic pericardium

= impaired ventricular filling

36
Q

Aortic dissection

A

Tearing of the inner wall of the aorta allowing blood to flow between the layers of the aortic wall, forcing the layers apart

37
Q

Causes of aortic dissection

A

Marfan’s syndrome
Trauma
Atherosclerosis
Hypertension

38
Q

Aortic dissection symptoms

A

Tearing, severe chest pain (radiating to back)

Collapse

39
Q

Aortic dissection signs

A

Reduced or absent peripheral pulses
Hypotension/ hypertension
Soft early diastolic murmur (AR)
Pulmonary oedema

40
Q

Aortic dissection investigations

A

CXR: Widened mediastinum
Echocardiogram/CT
ECG: Inferior ST elevation

41
Q

Aortic dissection treatment

A

Surgery

Meticulous blood pressure control

42
Q

Signs of aortic coarction

A

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

43
Q

Symptoms of aortic coarction

A

Infancy (severe):

  • Heart failure
  • Failure to thrive

Later life:
- Hypertension

44
Q

Risk factors for DVT and PE

A
Surgery(esp. abdominal), 
Late pregnancy,
Reduced mobility,
Varicose veins,
Hypertension,
COPD,
Fracture,
Hip/knee replacement,
Abdominal/pelvic malignancy,
Obesity,
OCP,
45
Q

General signs of cardiomyopathy

A

Oedema
↑HR
↑ JVP

46
Q

Cardiac tamponade

A

Fluid in the pericardial cavity resulting in compression of the heart

47
Q

Restrictive cardiomyopathy symptoms

A

Dyspnoea
Weakness + Fatigue
Angina
Syncope

*Symptoms of heart failure

48
Q

Restrictive cardiomyopathy signs

A

Oedema
↑HR
↑JVP
S4 heart sound

Arrhythmias (conduction pathways can become dysfunctional)

49
Q

General symptoms of cardiomyopathies

A

Dyspnoea
Weakness + Fatigue
Angina
Syncope

50
Q

Marfan syndrome

A

Multisystem connective tissue disorder caused by a mutation on the fibrillin 1 gene.
Autosomal dominant