General

Question 1

Difference between true and false aneurysm

Answer 1

True - all layers of wall involved

False - pseudoaneurysm involves collection of blood in adventitia which communicates with lumen

Question 2

Common sites of aneurysm

Answer 2

Aorta (infrarenal)
iliac
femorial
popliteal

Question 3

Marfan’s syndrome

• How is it inherited?
• where is the mutation?
• Presentation
• Treatment

Answer 3

• autosomal dominant
• mutation in fibrillin gene on chromosome 15
• skeletion - arachnodactyly, joint hyper mobility, scoliosis, chest deformity, high arched palate
• eye - discoloration of lens
• cardio - aortic disease; mitral regurgitation
• weakening of aortic media - aortic root dilatation, regurgitation, dissection

Weakening of the aortic media leads to aortic root dilatation, regurgitation and dissection

B-blockers reduce rate of aortic dilatation and risk of rupture.

Question 4

Causes of aortitis

Answer 4

Syphilis (saccular aneurysms of ascending aorta containing calcification)
Takayasus disease
Reiter's syndrome
Giant cell arteritis
Ankylosing spondylitis

Question 5

Thoracic aortic aneurysms

- presentation

Answer 5

• chest pain
• aortic regurgitation
• compressive symptoms - stridor (trachea, bronchus)
• hoarseness
• SVC syndrome

Aorto-oesophageal fistula causes massive bleeding

Question 6

Abdominal aortic aneurysms

• Which sex is most affected?
• what age does it commonly present at?
• presentation
• diagnosis
• Management
• is there a screening program?

Answer 6

• M:F 3:1
• 65-75 years elective, 75-85 emergency
• Incidental - examination, Xray, abdo USS
• Pain - central abdomen, back, loin, iliac fossa/groin
• Thromboembolic complications
• Compression - duodenum, inferior vena cava
• Rupture - into retroperitoneum, peritoneal cavity
• Collapse

USS
CT - more accurate for info on size of aneurysm. NOT for surveillance

Until reaches 5.5 cm diameter - risk of surgery > risk of rupture
All symptomatic should be considered for repair - esp if have distal embolisation (risk of limb loss)

Open AAA repair = treatment of choice (elective & emergency)
- replace segment with prosthetic graft

EVAR (stent-graft placed through the femoral artery)

men >65 years screened using ultrasound scan

Question 7

Aortic dissection

• pathology
• etiology
• what age does it usually occur at?
• what sex is most commonly affected?
• what is the classification?
• Clinical features
  
  • typical history in young patient
• investigations
• management

Answer 7

• Breach in integrity of aortic wall intima
• Arterial blood enters media, which is then split into 2 layers (false lumen alongside true lumen)

Aortic disease (atherosclerosis, aortic aneurysm, aortic coarctation)
hypertension
Collagen disorders - Marfans, Ehlers Danlos
Previous aortic surgery
Pregnancy (3rd trimester)
trauma
iatorogenic (e.g. cardiac catheterization)

60-70s
M:F 2:1

Type A (70%) - involving ascending aorta
Type B (30%) - involving descending thoracic aorta

Ascending aorta –> anterior chest pain
descending aorta –> intrascapular pain

Abrupt pain - “tearing”
Collapse common
Hypertensive unless major haemorrhage
Asymmetry of brachial, carotid, femoral pulses.
Signs aortic regurgitation
Occlusion of aortic branches may cause downstream problems - MI, stroke, paraplegia, mesenteric infarction/acute abdomen, renal failure, acute limb ischemia
Symptoms of stroke/ visceral acute limb ischemia
Neurological changes: depression, paresthesia, weakness

Young - recent history of heavy lifting/ cocaine

CXR -> broadening of upper mediastinum and distortion of aortic knuckle
- left sided pleural effusion common

ECG - left ventricular hypertrophy

Doppler ECHO - aortic regurgitation, dilated aortic root

CT/MRI - intimal flap

Type A - emergency surgery to replace ascending aorta

Type B - medical treatment unless impending/actual external rupture or vital organ/limb ischemia

• maintain mean arterial pressure of 60-75mmHg
• beta-blockers (if contraindicated use Ca channel blockers = verapamil)
• may add labetalol (alpha-blocking)
• if these fail - consider sodium nitroprusside

Percutaneous endoluminal repair is sometimes possible and involves either ‘fenestrating’ (perforating) the intimal flap so that blood can return from the false to the true lumen or implanting a stent graft placed from the femoral artery

Post discharge = anti-hypertensives - metoprolol

Question 8

Coarctation of the aorta

• pathology
• What sex does it affect more?
• What other abnormalities is it associated with?
• presentation
• what would be found on examination?
• diagnosis
• Treatment

Answer 8

Narrowing of aorta occurs in region where ductus arteriosus joins aorta, i.e. at the isthmus just below origin of left subclavian artery

2x more common in males

1 in 4000 children

Associated with other abnormalities

• Bicuspid aortic valve
• ‘Berry’ aneurysms of cerebral circulation

Congenital

Acquired coarctation of aorta = rare - may follow trauma or occur as a complication of a progressive arteritis (Takayasu’s disease)

Notching of the inferior border of the ribs is present in around 70% of adults with coarctation of the aorta.

Features:

• important cause of cardiac failure in newborn
• symptoms often absent when detected in older children/adults
• Turner’s syndrome
• Headaches may occur from hypertension proximal to coarctation,
• Sometimes – weakness/cramps in legs from decreased circulation in lower part of body.
• BP is raised in upper body but normal or low in legs.
• A systolic murmur (heard posteriorly, over coarctation)
• low birth weight
• radio-femoral delay
• Causes proximal hypertension (BP is high in the upper body but normal or low in the legs), which can lead to headaches.
• May have ejection click and systolic murmur in aortic area due to a bicuspid aortic valve

As a result of aortic narrowing, collaterals form; mainly involve periscapular, internal mammary and intercostal arteries - may result in localised bruits.

CXR in early childhood - often normal but later changes in contour of aorta (indentation of descending aorta, ‘3 sign’) and notching of under-surfaces of ribs from collaterals.

MRI = best imaging method

ECG - left ventricular hypertrophy → confirm with ECHO

Management

• Untreated - death from left ventricular failure, dissection of aorta or cerebral haemorrhage.
• Surgical correction advisable in all but mildest - reduced risk of death from L ventricular failure, dissection of aorta or cerebral hemorrhage
• If carried out sufficiently early in childhood, persistent hypertension can be avoided.
• Patients repaired in late childhood or adult life often remain hypertensive or develop recurrent hypertension later on.
• Recurrence of stenosis may occur as child grows and may be managed by balloon dilatation and sometimes stenting.
• Coexistent bicuspid aortic valve, (occurs in over 50%), → progressive aortic stenosis or regurgitation & requires long-term follow-up.

Question 9

Hypertension

• Grade 1
• Grade 2
• Grade 3

Answer 9

Grade 1 - <159/ <99
Grade 2 - <179/ <109
Grade 3 - >180 / >110

Question 10

Hypertension

- aetiology - What is the most common cause?

Answer 10

95% essential hypertension = pathogenesis not clearly understood

• many factors contribute to it
• diet - high salt, alcohol, obesity; renal dysfunction

5% secondary hypertension - due to specific disease/abnormality leading to Na retention and/or peripheral vasoconstriction

• alcohol
• obesity
• renal disease
• endocrine disease
• drugs
• coarctation of aorta

Question 11

Hypertension signs on examination

Answer 11

Secondary hypertension signs

• radio-femoral delay (coarctation of aorta)
• enlarged kidneys (polycystic kidney disease)
• abdominal bruits (renal artery stenosis)
• central obesity
• hyperlipidaemia

Question 12

Complications of hypertension

Answer 12

Blood vessels

• larger arteries - thickened internal elastic lamina, hypertrophied smooth muscle, fibrous tissue
• smaller arteries - hyaline arteriosclerosis, narrowed lumen, aneurysms may develop

CNS

• stroke
• carotid atheroma, TIA

Retina
- “cotton wool” exudates

Heart

• higher incidence of coronary artery disease
• Left ventricular hypertrophy –> may lead to AF

Kidneys
- proteinuria

Question 13

When should you treat hypertension (what should readings be above)?

Answer 13

patients with diabetes, CKD, cardiovascular disease = > 140/ 90 mmHg

if older than 60 = > 150/ 90 mmHg

> 135/85 - assess CV risk, treat if >20%/10 years or have end organ damage

> 150/96 mmHg - treat
180/110 mmHg - treat immediately, consider referral

Question 14

Hypertension

• what are the treatment targets?
• in diabetic
• in someone over 80

Answer 14

<140/90 mmHg / ambulatory/home <135/85

diabetic <130/80 mmHg

> 80 year old < 150/90 / <140/85

Question 15

Hypertensive treatment - how often should patients be followed up?

Answer 15

every 3 months

Question 16

Treatment protocol

Answer 16

Aged <55 years = ACE inhibitor

Age >55 years or black person of African or Caribbean family origin of any age = Ca channel blocker

Second line for both = A + C
3rd line = A + C + D
4th line = consider further diuretic or alpha/beta blocker

Consider thiazide diuretic as 1st line if has edema, evidence of heart failure or high risk of heart failure

Question 17

Ca channel blocker side effects

Answer 17

flushing
palpitations
fluid retention

Question 18

What is an indication for Verapamil?

- what type of drug is it

Answer 18

good if hypertension coexists with angina

Rate limiting Ca channel antagonists

Question 19

What is an indication for Verapamil?

- what type of drug is it

Answer 19

good if hypertension coexists with angina

Rate limiting Ca channel antagonists

Question 20

Treatment for someone with hypertension and angina

Answer 20

Beta-blocker

Verapamil - rate-limiting Ca channel antagonists

Question 21

Treatment of malignant hypertension

Answer 21

IV/im labetalol
IV GTN
im hydralazine
IV sodium nitroprusside

ALL need careful supervision in high-dependency unit

Question 22

How much fluid does the normal pericardial sac contain?

Answer 22

50ml - like lymph - lubricates surface of heart

Question 23

What is the function of the pericardium?

Answer 23

Limits dissension of heart

Contributes to haemodynamic interdependence of ventricles

Acts as barrier to infection

Question 24

Acute pericarditis

• aetiology - Common vs uncommon
• presentation
  
  • Where is the pain? does it radiate? what makes the pain worse?
• investigations
• management

Answer 24

Aetiology

• common = viral (e.g. Coxsackie B); Acute MI
• Less common = uremia; malignancy; trauma; CTD - SLE
• Rare in UK = bacterial infection; rheumatic fever; TB

Pain
- retrosternal, radiates to shoulder and neck, aggravated by deep breathing, movement, position change, exercise; swallowing
Low grade fever
Pericardial friction rub - high pitched superficial scratching/crunching noise; produced by movement of inflamed pericardium; diagnostic

ECG

• ST elevation with upward concavity over affected area
• PR interval depression (v. specific)
• Later = T wave inversion

Treatment:

• Pain relief = aspirin / may need stronger drug = indomethacin
• corticosteroids/ colchicine may suppress symptoms - but no evidence they accelerate cure

IF purulent - need antibiotics; may need pericardiocentesis, surgical drainage

Question 25

What would patient complain of if develop pericardial effusion complicating pericarditis?

• What would be found on ECG, CXR and ECHO?
• which investigation is used for definitive diagnosis?

Answer 25

Sensation of retrosternal oppression

HS may be quieter.

ECG - Small QRS in large effusion; QRS may alternate in amplitude due to to-and-for motion of heart within fluid-filled pericardial sac

CXR - increased size of cardiac silhouette; large effusion = globular appearance

ECHO = definitive diagnosis; monitor size of effusion and its effect on cardiac function

Question 26

What is cardiac tamponade?
When could cardiac tamponade occur?
What signs would be present in patient?
What would explain a sudden deterioration?
What investigations would you do, and what would they show?
What is the management?

Answer 26

• Acute heart failure due to compression of heart by a large or rapidly developing effusion

May complicate any form of pericarditis or be caused by malignant disease, trauma, rupture of free wall of myocardium following MI

Markedly raised JVP; hypotension; pulsus paradoxus, oliguria

Sudden deterioration = due to bleeding into pericardial space

CXR - enlarged globular heart or normal

ECHO - confirm diagnosis, find best site for aspiration

Question 27

What is pericardiocentesis?

• when is it indicated?
• what are the complications?

Answer 27

needle inserted under ECHO guidance medial to cardiac apex/ below xiphoid process, directed upwards to left shoulder. Fluid aspirated through needle.

Indicated for diagnostic purposes or treatment of cardiac tamponade (pericardial drainage)

Complications: arrhythmias, damage to coronary artery, bleeding with exacerbation of tamponade due to injury to RV
- if cardiac tamponade is due to cardiac rupture or aortic dissection, pericardial aspiration may precipitate further potentially life threatening bleeding = if this occurs, need to do emergency surgery

Question 28

Tuberculous pericarditis

• when might it present?
• Presentation
• complications
• diagnosis
• treatment

Answer 28

• may complicate pulmonary TB
• may be first manifestation of infection
• Tb pericarditis effusion common feature of AIDS

Chronic malaise
weight loss
low-grade fever

Effusion usually develops and pericardium may become thick = pericardial constriction or tamponade

Diagnosis - aspirate fluid - examine/ culture for tubercle bacilli

Tx = anti -TB chemotherapy and 3 month course of prednisolone

Question 29

Chronic constrictive pericarditis

• pathophysiology
• aetiology
• presentation
  
  • is breathlessness a prominent feature?
• when should you suspect it?
• diagnosis
  
  • what condition may it mimic?
• management

Answer 29

• Due to progressive thickening, fibrosis and calcification of pericardium
• calcification may extend into myocardium - may impair myocardial contraction

Often follows attack of TB pericarditis.
Can complicate haemopericardium, viral pericarditis, rheumatoid arthritis, purulent pericarditis

Signs of systemic venous congestion
Fatigue
rapid, low-volume pulse
elevated JVP with rapid y descent
Kussmauls sign (paradoxical rise in JVP during inspiration)
loud early third HS or ‘pericardial knock’
ascites and hepatomegaly
peripheral edema
sometimes: pulsus paradoxus (excessive fall in BP during inspiration)
AF common
Breathless not prominent symptom - as lungs rarely congested

ALWAYS suspect in any patient with unexplained right heart failure and small heart

Diagnosis

• CXR - pericardial calcification
• ECHO
• CT - image pericardial calcification

OFTEN difficult to distinguish from restrictive cardiomyopathy

Tx = surgical resection of diseased pericardium

Question 30

What are the screenings done for congenital heart defects?

Answer 30

USS in 2nd trimester

postnatal clinical exam

Question 31

How would a CHD present in:

• birth/neonates
• infancy/ childhood
• adolescence/ adults?

Answer 31

Birth

• cyanosis
• HF

Infancy

• Cyanosis
• HF
• Arrhythmia
• murmur
• failure to thrive

Adolescence

• HF
• Murmur
• arrhythmia
• cyanosis due to shunt reversal (Eisenmonger’s syndrome)
• late consequences of previous cardiac surgery - arrhythmia, HF

Question 32

What are the most common CHD?

Answer 32

VSD
ASD
Patent ductus arteriosus

Question 33

What are causes of CHD?

Answer 33

Maternal infection
- rubella - PDA, Pulmonary valvular and/or artery stenosis, ASD

Exposure to drugs/toxins
- alcohol

Maternal lupus erythematous

Genetic/chromosomal abnormalities

• Downs syndrome - septal defect
• Marfans
• DiGeorge’s (deletion in chromosome 22q)

Question 34

Examples of L to R shunts (CHD)

Answer 34

VSD

• Perimembranous, outlet (below semilunar), inlet (below AV valve)
• Perimembranous/outlet may cause aortic valve prolapse
• LVH present, inlet VSD→ L axis deviation
• Severe HF in infancy, pansystolic murmur at LSE with systolic thrill +/- parasternal heave - Smaller holes lead to louder murmurs

ASD

• Ostium secundum in fossa ovalis - 80%, often asymptomatic until L→R shunt; HF/ dyspnoea occurs from LV compliance changes with age
• Ostium primum defect - Associated with AV valve anomalies e.g. Down’s syndrome
• Sinus venosus defect (SVC→RA region)
• Unroofed coronary sinus
• CP, palpitations, fixed S2, pulmonary systolic flow murmur
• ECG: RBBB with LAD (primum defect), RAD (secundum)
• CXR: small aortic knuckle, pulmonary plethora, atrial enlargement
• If untreated→ reduced ET, atrial arrhythmias, Eisenmenger’s physiology
• AVSD: cardiomegaly on CXR
• Patent ductus arteriosus, partial anomalous pulmonary vein connection

Question 35

Examples of R to L shunts (CHD)

Answer 35

TOF (pulmonary stenosis, VSD, RVH, overriding aorta)

Loud ejection systolic murmur radiating to axillae

Transposition of great arteries, truncus arteriosis, Ebstein’s anomaly (septal/posterior leaflets of tricuspid moved towards apex)

Total anomalous pulmonary venous connection

Hypoplastic left heart syndrome

Question 36

What is Eisenmenger’s syndrome?

- who is at risk?

Answer 36

If severe pulmonary hypertension develops, a left-to-right shunt may reverse → right-to-left shunt → marked cyanosis (Eisenmenger’s syndrome)

• May be more apparent in feet and toes than in upper part of body: differential cyanosis.

More common with large ventricular septal defects or persistent ductus arteriosus than with atrial septal defects.

Eisenmenger’s syndrome - risk from abrupt changes in afterload that exacerbate right-to-left shunting, such as vasodilatation, anaesthesia and pregnancy.

Question 37

Patent ductus arteriosus

• pathophysiology
• What sex is it most common in?
• Clinical features
• What would be found on examination?
• management

Answer 37

During fetal life, before lungs begin to function, most blood from pulmonary artery passes through ductus arteriosus into aorta

• Normally ductus closes soon after birth
• Persistence of ductus associated with other abnormalities
• More common in females

Since pressure in aorta > pulmonary artery → continuous arteriovenous shunt (volume depends on size of ductus).
- As much as 50% of left ventricular output is recirculated through lungs → increase in work of heart

Clinical features

• Small shunts - may have no symptoms for years
• Large → growth and development may be retarded.
• Rise in pulmonary artery pressure → progressive pulmonary vascular damage (radiologically enlarged pulmonary artery)

Usually no disability in infancy but cardiac failure may eventually ensue → dyspnoea = first symptom.

Continuous ‘machinery’ murmur with late systolic accentuation, maximal in second left intercostal space below clavicle

Frequently accompanied by thrill.

Pulses increased in volume.

ECG usually normal.

Persistent ductus with reversed shunting

• If pulmonary vascular resistance increases, pulmonary artery pressure may rise until it equals or exceeds aortic pressure.
• Shunt through defect may reverse → Eisenmenger’s syndrome.
• Murmur becomes quieter, may be confined to systole or may disappear.
• ECG - evidence of right ventricular hypertrophy.

Management
- A patent ductus is closed at cardiac catheterisation with an implantable occlusive device.
- Done in infancy if significant and pulmonary resistance not elevated
- May be delayed until later childhood in those with smaller shunts
- Closure remains advisable to reduce risk of endocarditis.
Pharmacological treatment in the neonatal period
- When ductus is structurally intact, a prostaglandin synthetase inhibitor (indometacin or ibuprofen) may be used in first week of life to induce closure.
- If have impaired lung perfusion (e.g. severe pulmonary stenosis and left-to- right shunt through ductus), may be advisable to improve oxygenation by keeping ductus open with prostaglandin treatment.

Treatments do not work if ductus is intrinsically abnormal.

Question 38

Atrial septal defect

• What sex is it most common in?
• what types are there? which type is more common?
• Pathophysioloy
• Complications
• presentation
• What would be found on examination
• investigation
• Management

Answer 38

One of most common CHD

2x more common in females

Most = ‘ostium secundum’ defects - involving fossa ovalis that, in utero, was foramen ovale

‘Ostium primum’ - defect in atrioventricular septum
- Associated with ‘cleft mitral valve’ (split anterior leaflet).

Normal RV is more compliant than LV - large volume of blood shunts through defect from LA to RA, and then to RV and pulmonary arteries → gradual enlargement of right side of heart and of pulmonary arteries.

Complications:

• Pulmonary hypertension & shunt reversal
• Tend to occur later in life than with other types of left-to-right shunt.

Most asymptomatic for many years
- Often detected at routine exams or post CXR

Possible manifestations:

• Dyspnoea
• Chest infections
• Cardiac failure
• Arrhythmias - atrial fibrillation,

Signs - due to volume overload of RV

• Wide, fixed splitting of second heart sound; Wide as delay in right ventricular ejection (increased stroke volume and RBBB) ; Fixed because septal defect equalises left and right atrial pressures throughout respiratory cycle 

• Systolic flow murmur over pulmonary valve; Children with large shunt - may be a diastolic flow murmur over tricuspid valve (Unlike mitral flow murmur, this is usually high-pitched)

CXR - enlargement of heart, pulmonary artery, pulmonary plethora.

ECG - incomplete right bundle branch block because right ventricular depolarisation is delayed as a result of ventricular dilatation 
with a ‘primum’ defect, there is also left axis deviation)

ECHO - RV dilatation; RV hypertrophy; Pulmonary artery dilatation.

Management

• If pulmonary flow is increased 50% above systemic flow (i.e. flow ratio of 1.5: 1) → will be clinically recognized → close surgically
• Can also close by cardiac catheterisation using implantable closure devices
• Long-term prognosis good unless pulmonary hypertension has developed.
• Severe pulmonary hypertension or shunt reversal = contraindications to surgery.

Question 39

Ventricular septal defect

• pathophysiology
• Aetiology
• Clinical features
• Investigations
• management

Answer 39

Incomplete septation of ventricles.

• Embryologically, interventricular septum has a membranous and a muscular portion.
• Most ‘perimembranous’- at junction of membranous & muscular portions.

Most common CHD, 1 in 500 live births.

• May be isolated or part of complex CHD.
• Acquired: from rupture as a complication of acute MI or, rarely, from trauma.

Clinical features
Flow from high-pressure LV → low-pressure RV during systole → pansystolic murmur
- Usually heard best at left sternal edge; Radiating all over precordium
- Small defect often produces loud murmur (maladie de Roger) in absence of other haemodynamic disturbance.
- Large defect → softer murmur, esp. if pressure in RV is elevated.

May be found immediately after birth, while pulmonary vascular resistance remains high, or when shunt is reversed in Eisenmenger’s syndrome.

Congenital ventricular septal defect may present as:

• Cardiac failure in infants
• Murmur with minor haemodynamic disturbance - older children /adults
• Rarely - Eisenmenger’s syndrome.

In some infants, murmur gets quieter/disappears due to spontaneous closure

If cardiac failure complicates large defect → usually absent in immediate postnatal period and only becomes apparent in first 4–6 weeks of life.

Prominent parasternal pulsation
Tachypnoea
Indrawing of lower ribs on inspiration.

Chest X-ray - pulmonary plethora
ECG - bilateral ventricular hypertrophy.

Management and prognosis
- Small ventricular septal defects - no specific treatment

Cardiac failure in infancy

• Initially treated medically - digoxin and diuretics.
• Persisting failure → surgical repair of defect.
• Percutaneous closure devices under development.

Eisenmenger’s syndrome avoided by monitoring for signs of rising pulmonary resistance (serial ECG & ECHO) and surgical repair

Surgical closure contraindicated in fully developed Eisenmenger’s syndrome - heart–lung transplantation may be only effective treatment.

Except in Eisenmenger’s syndrome, long-term prognosis is very good

Many patients with Eisenmenger’s syndrome die in 20-30s - few survive to the 50s without transplantation.

Question 40

Tetralogy of Fallot

• pathophysiology
• Aetiology
• Clinical features
• Investigations
• management

Answer 40

RV outflow obstruction is most often subvalvular (infundibular) but may be valvular, supravalvular or a combination of these

• The ventricular septal defect is usually large and similar in aperture to aortic orifice.
• The combination results in elevated right ventricular pressure and right-to-left shunting of cyanotic blood across ventricular septal defect.

Embryological cause = abnormal development of bulbar septum that separates ascending aorta from pulmonary artery, and which normally aligns and fuses with the outflow part of interventricular septum.

1 in 2000 births

Most common cause of cyanosis in infancy after 1st year of life.

Comprises

1. Pulmonary stenosis
2. Overriding of ventricular septal defect by aorta
3. Ventricular septal defect
4. Right ventricular hypertrophy

Clinical features
Children - usually cyanosed
- Not always the case in neonates as it is only when right ventricular pressure rises to equal or exceed left ventricular pressure that a large right-to-left shunt develops.

Subvalvular component of RV outflow obstruction is dynamic and may increase suddenly under adrenergic stimulation.

‘Fallot’s spells’

• Child may suddenly become increasingly cyanosed → may become apneic and unconscious
• Often after feeding or crying attack
• Older children – spells are uncommon but cyanosis becomes increasingly apparent → stunting of growth, digital clubbing and polycythaemia.
• Some obtain relief by squatting after exertion → increases afterload of left heart and reduces right-to-left shunting: Fallot’s sign.

Natural history before development of surgery variable - most died in infancy or childhood.

Examination

• Cyanosis with loud ejection systolic murmur in pulmonary area (as for pulmonary stenosis)
• Cyanosis may be absent in newborn or in patients with only mild right ventricular outflow obstruction (‘acyanotic tetralogy of Fallot’).

Investigations and management
ECG - right ventricular hypertrophy
Chest X-ray - abnormally small pulmonary artery & ‘boot-shaped’ heart.
ECHO = diagnostic
- Aorta not continuous with anterior ventricular septum.

Definitive management = total correction of defect by surgical relief of pulmonary stenosis and closure of the ventricular septal defect.
- Primary surgical correction may be undertaken prior to age of 5 years.

If pulmonary arteries are too hypoplastic, then palliation in the form of a Blalock–Taussig shunt may be performed, with an anastomosis created between pulmonary artery and subclavian artery.

• Improves pulmonary blood flow and pulmonary artery development
• May facilitate later definitive correction.

Good prognosis after total correction – especially if operation performed in childhood.

Follow-up needed to identify residual shunting, recurrent pulmonary stenosis and arrhythmias.

Implantable defibrillator is sometimes recommended in adulthood.

Question 41

Tricuspid atresia

Answer 41

• Absent tricuspid orifice
• Hypoplastic RV
• RA-to-LA shunt
• Ventricular septal defect shunt
• Surgical correction may be possible

Question 42

Transposition of the great vessels

Answer 42

• Aorta arises from morphological RV, pulmonary artery from LV
• Shunt via atria, ductus and possibly ventricular septal defect
• Palliation by balloon atrial septostomy/enlargement
• Surgical correction possible

Question 43

Pulmonary atresia

Answer 43

• Pulmonary valve atretic and pulmonary artery hypoplastic
• RA-to-LA shunt, pulmonary flow via ductus
• Palliation by balloon atrial septostomy
• Surgical correction may be possible

Question 44

Ebstein’s anomaly

Answer 44

• Tricuspid valve is dysplastic and displaced into RV
• RV ‘atrialised’
• Tricuspid regurgitation
• RA-to-LA shunt
• Wide spectrum of severity
• Arrhythmias

• Surgical repair possible but significant risk

Question 45

Effect of CHD in adults

Answer 45

• Increasing numbers of children who have had surgical correction of congenital defects and who may have further problems as adults.
• Undergone correction of coarctation of aorta may develop hypertension in adult life.
• Transposition of great arteries who have had a ‘Mustard’ repair, where blood is redirected at atrial level, leaving RV connected to the aorta, may develop right ventricular failure in adult life.
o RV unsuited for function at systemic pressures → may begin to dilate and fail when patients are in 20s/30s.
• Surgery involving atria → may develop atrial arrhythmias
• Ventricular scars → may develop ventricular arrhythmias
o Consider implantable cardiac defibrillator.

Question 46

What ECG leads would be affected in antero-septal infarction?

Answer 46

V1 to V4

Question 47

What ECG leads would be affected in anterolateral infarction?

Answer 47

V4 to V6

aVL & I

Question 48

What ECG leads would be affected in inferior infarction?

Answer 48

II, III, aVF

• Leads I, aVL and anterior chest leads may show reciprocal changes of ST depression

Question 49

What is the pattern of evolution of ECG changes in transmural MI?

Answer 49

A - normal ECG
B - Acute ST elevation
C - progressive loss of R wave; developing Q wave; resolution of ST elevation; terminal T wave inversion
D - deep Q wave and T wave inversion
E - old or established infarct pattern; Q wave tends to persist; T wave changes become less marked

Question 50

Are cardiac biomarkers elevated in unstable angina?

Answer 50

NO

Question 51

What is creatine kinase?

Answer 51

Creatine kinase – cardio-specific isoform

Starts to rise at 4-6 hours, peaks at about 12 hours and falls to normal within 48-72 hours

CK – also present in skeletal muscle

Modest rise may be due to intramuscular injection, exercise, fall (especially in elderly)

Defibrillation – causes significant release of CK but not CK-MB or troponins

Question 52

What are troponins?

• when are they released?
• how long do they remain elevated for?

Answer 52

Troponins T and I

Most sensitive cardiac biomarkers

Released within 4-6 hours

Remain elevated for up to 2 weeks

Question 53

Examples of primary cardiomyopathy

Answer 53

GENETIC

Hypertrophic cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy/dysplasia

LV non-compaction
- Characterised by presence of spongy myocardium due to arrest in normal embryogenesis

Ion channelopathies

• Includes long QT syndrome
• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia
• Idiopathic VF
• Sick sinus syndrome

Question 54

How does Takotsubo present?

Answer 54

Presents with CP associated with ST elevation, T-wave inversion and mild elevations in cardiac markers

Transient hypokinesia of LV with absence of CHD

Question 55

Dilated cardiomyopathy

• pathology
• histological changes
• DDx
• What sex does it affect more often?
• Presentation
• Investigation
• Treatment

Answer 55

• Dilatation and impaired contraction of LV and often RV.
• Left ventricular mass is increased BUT wall thickness is normal or reduced
• Dilatation of valve rings → ‘functional’ mitral and tricuspid incompetence.
• Histological changes variable
o Myofibrillary loss
o Interstitial fibrosis
o T-cell infiltrates.
• DD = Ventricular dysfunction due to coronary artery disease
o Must exclude this first
• Unclear pathogenesis - probably heterogenous group of conditions.
o Alcohol, hypertension, haemochromatosis, infections, autoimmune, -partums, thyrotoxicosis
o 25% inherited as autosomal dominant trait and variety of single-gene mutations
• Most affect proteins in cytoskeleton of myocyte (e.g. dystrophin, lamin A and C, emerin and metavinculin)
• Many associated with minor skeletal muscle abnormalities.
• Most X-linked inherited skeletal muscular dystrophies (e.g. Becker and Duchenne)
o Late autoimmune reaction to viral myocarditis
• Incidence: 20 per 100000 / Prevalence of 38 per 100000.
o Men: Women 2:1
• Most present with HF or found during routine investigation
o Sporadic chest pain = frequent
o Fatigue, dyspnea, pulmonary oedema, RVF, raised JVP, MR/TR, S3 gallop
• Arrhythmia, thromboembolism & sudden death may occur at any stage
• Bloods → BNP, low Na indicates poor prognosis
• CXR → cardiomegaly, pulmonary oedema
• ECG → usually non-specific changes (T wave, poor R-wave progression), tachycardia
• ECHO & cardiac MRI → globally dilated hypokinetic heart with low ejection fraction
• Treatment aimed at controlling resulting heart failure.
o Bed rest, diuretics, beta-blockers, ACEi, anticoagulation, biventricular pacing
• Some patients remain well for years, prognosis is variable and cardiac transplantation may be indicated.
• Patients with dilated cardiomyopathy and moderate or severe heart failure may be at risk of sudden arrhythmic death.
o Risk reduced by medical therapy with β-blockers and angiotensin receptor antagonists.
o May consider implantation of cardiac defibrillator and/or cardiac resynchronisation therapy.

Question 56

Hypertrophic cardiomyopathy

Answer 56

• Most common form - prevalence 100 per 100 000.
• Left ventricular hypertrophy with malalignment of myocardial fibres and myocardial fibrosis in absence of another predisposing factor
• May be generalised or confined largely to interventricular septum (asymmetric septal hypertrophy) or other regions (e.g. apical hypertrophic cardiomyopathy, a variant which is common in Far East).
• Heart failure may develop because stiff non- compliant ventricles impede diastolic filling.
• Septal hypertrophy may also cause dynamic left ventricular outflow tract obstruction (hypertrophic obstructive cardiomyopathy, HOCM) and mitral regurgitation due to abnormal systolic anterior motion of the anterior mitral valve leaflet.
• Clinical features
o Effort-related symptoms
• Syncope
• Angina
• Dyspnoea
o Sudden death
o Arrhythmia
• Signs
o Jerky pulse
o Palpable left ventricular hypertrophy
o Double impulse at apex (palpable 4th heart sound due to left atrial hypertrophy)
o Mid-systolic murmur at base
o Pansystolic murmur (due to mitral regurgitation at apex)
o A wave in JVP
• Genetic disorder
o Usually autosomal dominant
o High penetrance
o Variable expression.
o Most due to single point mutation in one of the genes that encode sarcomeric contractile proteins.
o Beta-myosin heavy chain mutations → elaborate ventricular hypertrophy.
o Troponin mutations → little/no hypertrophy but marked myocardial fibre disarray, an abnormal vascular response (e.g. exercise-induced hypotension) and a high risk of sudden death.
o Myosin-binding protein C mutations →present late in life. Associated with hypertension and arrhythmia.
• Symptoms/ signs similar to aortic stenosis
o BUT character of arterial pulse is jerky
• ECG abnormal and shows features of left ventricular hypertrophy with wide variety of bizarre abnormalities
o Pseudo-infarct pattern
o Deep T-wave inversion
o Q waves
• ECHO = diagnostic
o May be difficult to diagnose if other causes of left ventricular hypertrophy present (e.g. physical training – athletes’ heart, hypertension) but degree of hypertrophy greater than expected
o Asymmetrical septal hypertrophy
• Genetic testing may help diagnosis & sometimes screen relatives
• Variable natural history but clinical deterioration often slow.
o Annual mortality from sudden death = 2–3% among adults; 4–6% in children and adolescents
o Sudden death typically occurs during or just after vigorous physical activity → hypertrophic cardiomyopathy most common cause of sudden death in young athletes.
o Ventricular arrhythmias may be responsible for many of these.
• RF for sudden death
o Previous cardiac arrest or sustained ventricular tachycardia
o Recurrent syncope
o Adverse genotype and/or FH
o Exercise-induced hypotension
o Non-sustained ventricular tachycardia on ambulatory ECG
o Marked increase in left ventricular wall thickness
• Beta-blockers, rate-limiting calcium antagonists (e.g. verapamil) and disopyramide can help relieve symptoms and sometimes prevent syncopal attacks
o No drugs known to improve prognosis
• Arrhythmias common - often respond to treatment with amiodarone.
• Outflow tract obstruction can be improved by partial surgical resection (myectomy) or by iatrogenic infarction of basal septum (septal ablation) using a catheter- delivered alcohol solution.
• An implantable cardiac defibrillator should be considered in patients with clinical risk factors for sudden death
• AVOID Digoxin and vasodilators as may increase outflow tract obstruction

Question 57

Arrhythmogenic right ventricular cardiomyopathy

Answer 57

• Patches of right ventricular myocardium are replaced with fibrous and fatty tissue - triangle of dysplasia (RV inflow/outflow, apex)
• Inherited – AD trait (desmosomal genes implicated)
• Prevalence - 10 per 100000.
• Presentation:
o Ventricular arrhythmias
o Sudden death
o Right-sided cardiac failure
• ECG -slightly broadened QRS complex and inverted T waves in the right precordial leads.
• MRI = useful diagnostic tool
• Screen relatives: 12 lead ECG, ambulatory ECG monitoring, MRI
• Patients at high risk of sudden death offered implantable cardiac defibrillator.
• 4 stages
o Concealed- early, asymptomatic phase
o Overt electrical disorder- unstable phase with symptomatic arrhythmias most commonly LBBB
o RV failure: progressive deterioration in RV contractile function
o Biventricular pump failure- phase of progressive biventricular dilatation

Question 58

Restrictive cardiomyopathy

• pathophysiology
• causes
• investigations
• treatment

Answer 58

• Rare
• Ventricular filling is impaired because ventricles are ‘stiff’ → high atrial pressures with atrial hypertrophy, dilatation → later, atrial fibrillation.
• Normal/reduced diastolic volumes, normal/reduced systolic volumes
• Most common cause in UK = Amyloidosis
o Other forms of infiltration (e.g. glycogen storage diseases)
o Idiopathic perimyocyte fibrosis
o Familial form of restrictive cardiomyopathy
• Diagnosis can be difficult and requires complex Doppler ECHO, CT or MRI, and endomyocardial biopsy.
• Treatment = symptomatic
• Prognosis usually poor – may need transplant

Question 59

Obliterative cardiomyopathy

Answer 59

• Rare form of restrictive cardiomyopathy
• Involves endocardium of one or both ventricles
• Thrombosis and fibrosis, with gradual obliteration of ventricular cavities (e.g. endomyocardial fibroelastosis).
• Mitral and tricuspid valves become regurgitant.
• Heart failure and pulmonary and systemic embolism are prominent
• Sometimes associated with eosinophilia (e.g. eosinophilic leukaemia, Churg–Strauss syndrome).
• Tropical countries - 10% of cardiac deaths.
• Mortality high: 50% at 2 years.
• Treatment
o Anticoagulation and antiplatelet therapy
o Diuretics - symptoms of heart failure.
o Surgery (tricuspid and/or mitral valve replacement with decortication of endocardium) in selected cases.

Question 60

Acute myocarditis

• what is it?
• presentation
• investigations
• management

Answer 60

inflammation of myocardium associated with pericardial inflammation
o	Presentation
•	ACS-like symptoms
•	HF symptoms
•	Palpitations
•	Tachycardia
•	Soft S1, S4 gallop
o	Investigation
•	ECG→ ST changes, T-wave inversion, atrial arrhythmias, transient AV block, QT prolongation
•	CRP→ raised
•	ESR→ raised
•	Troponin→ raised
•	ECHO→ diastolic dysfunction
o	Management: treat underlying condition