Presentations, investigations and mgmt for high yield conditions

Question 1

Presentation for patient presenting with COPD

Answer 1

1. The most likely differential for this patient is COPD. This is evidenced by:

Positive findings: dyspnoeic at rest, pursed lip breathing, o2 therapy, tar stained fingernails, widespread wheeze throughout both lung fields. I note the presence of inhalers at the bedside including salbutamol / combination inhaler.

Negative signs: there were no signs of cor pulmonale.

2. Cause: in this patient, the most likely cause of COPD would be smoking. Other causes include A1AT deficiency.
3. Complications / severity
4. Alternatives: an alternative explanation for the signs elicited could be: asthma, bronchiectasis, cystic fibrosis and OSA.
5. Investigations / Management

Question 2

Investigations for a patient presenting with COPD

Answer 2

Bedside: spirometry with bronchodilator response to differentiate from asthma (FEV1/FVC ratio <0.7 and not fully reversible)

Bloods: ABG (showing T1 or T2 resp failure), FBC, CRP, UE.

Imaging: CXR (hyperinflation, flat hemidiaphragms, bullae, prominent pulmonary arteries). Echo (pulmonary HTN).

Question 3

Management of a patient with COPD

Answer 3

Acute: o2 therapy with caution and ABG monitoring. Nebulised ipratropium and salbutamol, oral steroids, antibiotics for infection, theophylline, chest physio, consider NIV.

Chronic: depends on severity
1. PRN inhalers (SABA)
2. LABA + LAMA or LABA + ICS
3. LABA + LAMA + ICS

Consider home nebulisers and anti-mucolytics

Extras: smoking cessation, nutritional management, pulmonary rehab, vaccinations, LTOT, social support, psychological support.

Question 4

Presentation for a patient presenting with bronchiectasis

Answer 4

1. The most likely differential in this patient is bronchiectasis. This is evidenced by:

Positive findings: bilateral coarse inspiratory crackles to the midzones and wheeze, finger clubbing, sputum pot by the bedside.

Negative findings: no evidence of cachexia, situs inversus or previous operations.

2. Cause: in this patient, the most likely cause may be previous infection, COPD and CF.
3. Complications / severity
4. Alternatives: an alternative explanation for the signs elicited could be COPD / CF.
5. Investigations / Management

Question 5

Investigations for a patient presenting with bronchiectasis

Answer 5

Bedside: sputum sample for C+S, atypical screen, AFB and fungal cultures. Observations and history.

Bloods: FBC, UE, CRP, serum immunoglobulins, Aspergillus serology.

Imaging: CXR (may be normal, may show tramline shadowing), HRCT (bronchial wall dilatation with signet ring appearance)

Special: spirometry (obstructive picture FEV1/FVC ratio <0.7). Sweat chloride test for CF. Saccharin test for ciliary dysfunction. ABPA screen (all looking for causes of the bronchiectasis).

Question 6

Management of a patient presenting with bronchiectasis

Answer 6

General: education of patient, optimise nutrition, smoking cessation, vaccinations, sputum clearance / chest physio.

Medical: antibiotics (prophylactic and acute courses), bronchodilators (if reversibility), regular inhaler steroids, mucolytics (dornase alfa in CF patients).

Surgical: lobecomy / bullectomy, lung transplant in CF.

Treatment of underlying cause: e.g. giving immunoglobulins for hypogammaglobulinaemia.

Question 7

Presentation of a patient with pulmonary fibrosis

Answer 7

1. The top differential in this patient is pulmonary fibrosis. This is evidenced by

Positive findings: finger clubbing and end-inspiratory widespread crackles bibasally.

Negative findings:

2. The most likely underlying cause is: CTD, ank spond, amiodarone therapy, radiation, systemic sclerosis.
3. Complications
4. An alternative explanation for bibasal end-inspiratory crackles is pulmonary oedema
5. Investigations / management

Question 8

Investigations for a patient presenting with pulmonary fibrosis

Answer 8

Bedside / functional: pulmonary function tests with diffusion capacity

Bloods: ABG (T1RF), FBC, UEs, CRP, preciptins, ANA, RF, anti-CCP (CTD screen), anti-centromere and anti-Scl70 (systemic sclerosis), serum immunoglobulins (ABPA), CK (myositis)

Imaging: CXR (reticulonodular shadowing in affected areas), HRCT (honeycomb appearance)

Special: echo (to assess pulmonary artery pressure) and bronchoscopy

Question 9

Management of a patient with pulmonary fibrosis

Answer 9

Non-pharmacological: ILD MDT discussion, smoking cessation, pulmonary rehab, nutritional assessment, LTOT

Pharmacological: PPIs, perfenidone (antifibrotics)

Question 10

Presentation of a patient presenting with signs of previous lung surgery

Answer 10

1. It is likely that this patient has had a lobectomy / pneumonectomy / mediastinoscopy. This is evidenced by:

Positive findings: scars (VATS or thoracotomy scars), finger clubbing, hoarse voice, palpable lymph nodes, small radiotherapy tattoos.

Negative findings: the patient is not cachectic.

2. The most likely cause of previous lung surgery in this patient would be lung cancer.
3. There is no evidence of complications.
4. Alternative explanations for undergoing a pneumonectomy / lobectomy include localised bronchiectasis, traumatic lung injury, bullectomy, congenital lung disease or old TB.
5. Investigations / management.

Question 11

What investigations would you suggest doing for a patient with suspected lung cancer?

Answer 11

Bedside: sputum cytology

Bloods: FBC, LFTS, UEs (SIADH), bone profile (hypercalcaemia due to metastases or PTH-related peptide releasing tumour).

Imaging: CXR, CT thorax

Special: pleural aspiration: 65% chance of detecting a malignant pleural effusion.

Question 12

How are patients with lung cancer managed?

Answer 12

Non-pharmacological: referral to lung cancer MDT, calculate patient’s performance status.

Medical: chemotherapy / radiotherapy

Surgical: surgical resection (pneumonectomy / lobectomy) is suitable for patients with adequate lung function and no medical contraindications.

Question 13

Presentation of a patient with signs of chronic liver disease

Answer 13

1. The most likely diagnosis for this patient is chronic liver disease. This is evidenced by:

Positive findings: jaundice, leuconychia, palmar erythema, excoriation marks, ascites, caput medusae, ecchymoses, asterixis, gynaecomastia

Negative findings: there is no evidence of decompensated liver failure

2. Complications / severity.
3. Cause: the most common causes of CLD in the UK are alcohol, NAFLD and hepatitis B and C.
4. Alternative explanations for these signs could be: spironolactone use.
5. Investigations / management.

Question 14

Investigations to perform in a patient presenting with signs of chronic liver disease

Answer 14

Bedside: ascitic fluid (send for gram stain and cell count, protein and culture (to calculate SAAG), observations, history.

Bloods: FBC, UEs, LFTs including GGT, coagulation screen, hepatitis serology, caeruloplasmin, ferritin, autoantibodies, TFTs, coeliac screen, A1AT levels.

Imaging: abdominal USS (to check for hepatosplenomegaly and confirm ascites), doppler flow studies of the portal vein (to rule out thrombosis), CT abdomen (doesn’t add much if USS normal).

Question 15

Management of chronic liver disease

Answer 15

Management depends on the underlying cause.

Alcohol: alcohol avoidance, diuretics, pabrinex, thiamine, spironolactone, lactulose, OGD to look for varices.

Hepatitis: anti-hep C viral agents.

Wilson’s disease: chelating agents such as penicillamine.

Haemochromatosis: venesection (to ferritin below 50).

A1AT deficiency: generally supportive, advise not to smoke., A1AT may be an option.

Question 16

Presentation for a patient with hepatosplenomegaly

Answer 16

1. This patient presents with hepatosplenomegaly. This is evidenced by:

Positive findings: Xcm splenomegaly, Xcm hepatomegaly.

Negative findings: there is no evident lymphadenopathy and no features of chronic liver disease.

2. The most likely causes for hepatosplenomegaly are chronic liver disease and haematological malignancy.
3. Complications / severity.
4. Alternative explanations for signs.
5. Investigations / management

Question 17

Presentation for a patient presenting with splenomegaly

Answer 17

1. This patient has evidence of splenomegaly. This is evidenced by:

Positve findings: the presence of a palpable mass in the LUQ which moves inferomedially with respiration. I am unable to palpate above it and there is a splenic notch palpable.

Negative findings: there is no evidence of pallor or bruising, and no palpable lymphadenopathy.

2. Some causes of splenomegaly include CML, CLL, lymphoma, Felty’s syndrome, portal HTN and IE.
3. Complications / severity.
4. Alternative explanations for signs: an alternative explanation for splenomegaly could be an enlarged left kidney.
5. Investigations / management.

Question 18

Presentation for a patient presenting with hepatomegaly

Answer 18

1. This patient has evidence of hepatomegaly. This is evidenced by:

Positive findings: the presence of a mass in the RUQ that moves with respiration, and I am unable to get above, and is dull to percussion. Estimate size (no. of fingers below diaphragm).

Negative findings: there was no evidence of decompensated liver disease and this patient is not in extremis.

2. Differentials for an underlying cause of hepatomegaly include lymphoma, primary or secondary malignancy, and congestive cardiac failure. It is important to also consider infective, immune and infiltrative causes such as amyloid and myeloproliferative disorders.
3. Complications / severity.
4. Alternative explanation for signs.
5. Investigations / management.

Question 19

Presentation for a patient presenting with signs of IBD

Answer 19

1. It is likely that this patient has inflammatory bowel disease. This is evidenced by:

Positive signs: clinical anaemia, cachexia, multiple scars on the abdomen suggesting fistulae / bowel obstruction / abscess drainage.

Negative signs: this patient is not cachectic and has no evidence of receiving parenteral nutrition such as a PICC line.

2. Causes: differentials for the presence of a midline abdominal scar include previous splenectomy, previous laparotomy, simultaneous kidney-pancreas transplant (SPK), appendicitis, diverticulitis, chronic bowel infections, bowel cancer.
3. Complications / severity: this patient is not in extremis.
4. Alternative explanations
5. Investigations / management

Question 20

Investigations to suggest for a patient with suspected IBD

Answer 20

Bedside: stool cultures (C+S, c.diff toxin), faecal calprotectin (evaluates bowel inflammation).

Bloods: FBC, CRP, LFTs, VBG if acutely unwell for lactate.

Imaging: AXR (to rule out toxic megacolon), sigmoidoscopy / colonoscopy and biopsy (for histological confirmation), MRI enterocolysis (to detect small bowel strictures).

Question 21

Management of IBD

Answer 21

Non-pharmacological: nutritional support, elemental + low-residue diet, psychological support.

Medical: immunosuppression including steroids, DMARDs such as azathioprine / MTX, and biological agents (infliximab and adalimumab). Ciclosporin can be used for steroid-refractory disease to reduce progression to surgery.

Surgical: indications include fistulae, strictures and failure to respond to medical therapy.

Question 22

Presentation for a patient with signs of ESRD

Answer 22

1. It is likely that this patient has or has had end-stage renal disease. This is evidenced by:

Positive findings: the presence of a renal transplant in the RIF / LIF. This is / is not a functioning transplant as the patient does not / does have evidence of recent renal replacement therapy (fistula recently needled, PD catheter present, tunneled line). There is the presence of a Rutherford-Morison scar indicative of a renal transplant / a midline scar consistent with an SPK. The patient is likely to be on immunosuppression, evidenced by Cushingoid features.

Negative findings: this patient is not in fluid overload, and is not showing signs of uraemia.

2. The most common causes for ESRD are diabetes, hypertension, ADPKD and glomerulonephritis. Other causes include connective tissue disease (e.g. SLE).
3. Complications / severity: this patient is not in extremis.
4. Alternative explanation for signs
5. Investigations / management.

Question 23

Investigations to request for a patient with a renal transplant admitted with a rise in serum creatinine?

Answer 23

Bedside: urine dip for haematuria, proteinuria, leucocytes and nitrites. Urine MC+S, virology for BK virus. Observations and history.

Bloods: renal function, FBC, bone profile, LFTs, CRP + blood cultures / virology (e.g., CMV and BK virus PCR). Immunosuppressive levels if on CNI to check for toxicity.

Imaging: USS of the transplanted kidney with Dopplers of the vessels (to assess for obstruction, renal perfusion, possible renal artery stenosis and renal vein thrombosis).

Special: transplant biopsy if no cause can be found, to rule out rejection.

Question 24

Management for a patient with a renal transplant?

Answer 24

Maintenance immunosuppression: 3 drug regimen. CNI (tacrolimus / ciclosporin) + antiproliferative (MMF or azathioprine) + steroid.

Breast and colon screening the same as the general population. Should have annual skin checks with dermatology for SCC and BCC.

Question 25

Presentation of a patient who has had a liver transplant

Answer 25

1. This patient has likely had a liver transplant. This is evidenced by:

Positive findings: the presence of a ‘Mercedez-Benz’ or rooftop scar, and evidence of chronic liver disease (gynaecomastia, spider naevi).

Negative findings: this patient is not in extremis. They are not jaundiced, encephalopathic, or showing signs of coagulopathy such as bruising.

2. The most likely causes for liver transplantation in the UK are cirrhosis, hepatic failure (infection / drugs) and malignancy (HCC). The most common causes for chronic liver disease are alcohol, NAFLD and hepatitis.
3. Complications / severity
4. Alternative explanation for signs - Wilson’s disease: evidence of Kayser-Fleischer rings, jaundice.
5. Investigations / management

Question 26

Presentation of a patient with cerebellar syndrome

Answer 26

1. This patient has signs of cerebellar dysfunction. This is evidenced by:

Positive findings: the patient has an ataxic gait with dysarthria and nystagmus, and past-pointing with intention tremor on examination.

Negative findings: the patient did not have dysdiadochokinesis or hypotonia.

2. Some causes for cerebellar dysfunction include: alcohol, multiple sclerosis, brain stem stroke, Freidreich’s ataxia (in young patient), and tumours.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management

Question 27

Investigations to suggest for a patient presenting with a cerebellar syndrome.

Answer 27

Depends on the suspected cause of cerebellar syndrome.

If MS is suspected, perform cranial and spinal MRI, LP for oligoclonal bands and protein in CSF, and visual evoked potentials.

Question 28

Presentation of a patient with hemiparesis

Answer 28

1. This patient likely has a right-sided upper motor neurone lesion. This is evidenced by:

Positive findings: left arm flexion and left leg extension, hypertonia in left UL and LLs, and brisk reflexes throughout. He mobilises with a frame.

Negative findings:

2. The most likely cause is a stroke, but I would like to include space occupying lesion and demyelination in my differential diagnosis.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management - I would like to examine his cardiovascular system, measure BP and look for an underlying cause.

Question 29

What investigations would you do for a patient with suspected stroke?

Answer 29

Bedside: ECG, 24-hour Holter monitor, blood pressure

Bloods: lipid profile, fasting blood glucose

Imaging: CT head to rule out haemorrhage, MRI brain, echocardiogram, carotid artery doppler

Question 30

Management for a patient with confirmed stroke

Answer 30

Non-medical: psychological and nutritional support, SLT assessment, PT/OT, use the NIH stroke scale to assess functionality at time of stroke.

Medical:
Thrombolysis if meets criteria and presents within 4.5h of symptom onset and SAH ruled out. Thrombectomy is alternative.
300mg aspirin OD for 2 weeks, followed by 75mg clopidogrel lifelong.
Secondary prevention: statin + PPI + blood glucose control.

Measure progress with Modified Rankin Score to assess prognosis.

Question 31

Presentation of a patient presenting with myotonic dystrophy

Answer 31

1. My top differential for this patient would be myotonic dystrophy. This is evidenced by:

Important positive findings: myopathic facies (elongated face, wasting of temporal muscles, bilateral ptosis, frontal balding). I have demonstrated evidence of myotonia, as there was slow release of grip after shaking his hand, and percussion myotonia on tapping the thenar eminence.

Important negative findings: there are no obvious signs of other complications associated with myotonic dystrophy, such as cardiac arrhythmias, aspiration pneumonia, dysphagia, diabetes, thyroid dysfunction and cataracts.

2. The most likely cause is myotonic dystrophy.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management

Question 32

Investigations to suggest for a patient with suspected myotonic dystrophy

Answer 32

Electromyography (EMG) - which would show ‘dive-bomber’ potentials.

Muscle biopsy.

Genetic analysis: expansion of CTG triple repeat on long arm of chromosome 19.

Question 33

Management for a patient with myotonic dystrophy.

Answer 33

Weakness is major problem - no treatment.

Reduction of myotonia using drugs such as phenytoin and carbamazepine (reduce myotonia but may make weakness worse).

Identification and treatment of associated complications.

Genetic counselling.

Advise against general anaesthetic (high risk of cardiorespiratory complications).

Question 34

Presentation of a patient with a 3rd nerve palsy

Answer 34

1. This patient has signs of a 3rd nerve palsy. This is evidenced by:

Positive findings: dilated / non-dilated pupil, and eye having a ‘down and out’ appearance.

Negative findings:

2. Causes of a 3rd nerve palsy include:
   Medical causes (do not involve pupil) - mononeuritis multiplex, demyelination, infarction

Surgical causes (do often involve pupil) - posterior communicating artery aneurysm, SOL, haemorrhage

3. Complications / severity
4. Alternative explanations for signs
5. Investigations / management

Question 35

Presentation of a patient with a 6th nerve palsy

Answer 35

1. My top differential for this patient would be a 6th nerve palsy. This is evidenced by:

Positive findings: diplopia when looking in the direction of the affected eye, unable to abduct affected eye (esotropia).

Negative findings: there are no obvious signs which would guide me towards a cause for the 6th nerve palsy.

2. Causes of a 6th nerve palsy include: causes of mononeuritis multiplex, demyelination, vascular lesion, malignancy, Lyme disease, raised ICP (‘false localising’ sign), and Wernicke’s encephalopathy for a bilateral 6th nerve palsy.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management

Question 36

Presentation of a patient with a complex ophthalmoplegia

Answer 36

1. This patient has a complex ophthalmoplegia. This is evidenced by:

Positive findings: diplopia in directions of gaze that are not attributable to a single nerve lesion.

Negative findings:

2. The most likely causes for a complex ophthalmoplegia include MS, mononeuritis multiplex, myasthenia gravis, and Graves’ ophthalmopathy.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management

Question 37

What investigations would you suggest performing in a patient with a complex ophthalmoplegia?

Answer 37

Neuroimaging: MRI brain (gives good views of the brainstem and posterior fossa).

Investigations for causes of mononeuritis multiplex (diabetes, RA, SLE).

Investigations for myasthenia gravis and thyroid disease (serum acetylcholine receptor antibodies and MuSK antibodies, pulmonary function tests, TFTs).

Question 38

Presentation of a patient with Parkinson’s disease

Answer 38

1. This patient shows signs of Parkinsonism. This is evidenced by:

Positive findings: there is an asymmetrical pill-rolling rest tremor, as well as cogwheel rigidity enhanced by synkinesis, and bradykinesia. He has a festinating gait, slow with the absence of arm swing.

Negative findings: there is no evidence of medications at the bedside. His speech is normal, and he does not have evidence of hypomimia.

2. The most likely cause is Idiopathic Parkinson’s disease. However, other causes of Parkinsonism include the Parkinson’s plus syndromes: corticobasal degeneration, PSP and multisystem atrophy. Parkinsonism can also be caused by drugs such as phenothiazines and stroke.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management

Question 39

How would you investigate a patient presenting with Parkinsonism?

Answer 39

Parkinson’s disease is generally a clinical diagnosis.

Supportive evidence may be provided by a therapeutic trial of levodopa or apomorphine challenge.

Cerebral imaging may be appropriate where other diagnoses require exclusion.

A DaT scan can be used to support a diagnosis of Parkinson’s disease (but cannot differentiate IPD from Parkinson’s plus syndromes).

Question 40

How would you manage a patient with idiopathic parkinson’s disease?

Answer 40

Non-medical: MDT approach: PD specialist and nurses, OT/PT, SLT, complications management, treat depression, assess cognition

Medical:
Levodopa formulations

Other medications: dopamine agonists (ropinirole), anticholinergics, MAOB inhibitors (selegiline), COMT inhibitors (entacapone), apomorphine

Surgery: DBS may be considered for those with motor fluctuations or levodopa-induced dyskinesia.

Question 41

Presentation for a patient with peripheral neuropathy (sensory / motor)

Answer 41

1. This patient has a predominantly sensory peripheral neuropathy. This is evidenced by:

Positive findings: lack of sensation bilaterally to mid-calf for all modalities.

Negative findings: there is no evidence of ulceration, callus formation, Charcot’s joints or pes cavus.

2. The most likely underlying cause is diabetes mellitus, as evidenced by finger pulp prick marks from capillary blood glucose testing.
3. Complications / severity.
4. Alternative explanation for signs - some differentials for a predominantly sensory neuropathy include: diabetes, alcohol, B12 / B1 deficiency, drugs (platinum-bsaed chemo), uraemia.

Some differentials for a predominantly motor neuropathy include: Guillain-Barre syndrome, malignancy, CMT disease, porphyria, lead poisoning.

5. Investigations / management

Question 42

How would you investigate a patient with a peripheral sensory /motor neuropathy?

Answer 42

Full drug and alcohol history. Urine dip for glucose / proteins / Bence-Jones protein.

LP and CSF study for protein and virology.

Nerve conduction studies.

Bloods: FBC, UEs, LFTs, GGT, vitamin B12 and folate, glucose, TFTs, autoimmune screen and immunoglobulins, hepatitis, HIV screen, syphilis and Lyme serology.

Imaging: CXR

Question 43

Presentation for a patient with multiple sclerosis

Answer 43

1. My top differential for this patient would be multiple sclerosis. This is evidenced by:

Positive findings: this patient has an ataxic gait. Examination of her lower limbs showed increased tone, weakness and brisk reflexes. Further examination shows that the patient has evidence of internuclear ophthalmoplegia bilaterally.

Negative findings: the patient does not have evidence of reduced visual acuity or other cranial nerve palsies.

2. Causes
3. Complications / severity
4. Alternative explanations for signs: MND and thyroid disease.
5. Investigations / management

Question 44

Investigations for a patient with suspected multiple sclerosis

Answer 44

CSF analysis looking for oligoclonal bands.

MRI: to look for periventricular white matter plaques.

Visual evoked potentials (VEPs): show delayed velocity but normal amplitude (evidence of previous optic neuritis).

Question 45

Management of a patient with multiple sclerosis

Answer 45

Non-medical: MDT approach, patient education, MS support group info

Acute relapse: IV methylprednisolone

Disease-modifying drugs: interferon beta, glatiramer, azathioprine, natalizumab

Symptomatic treatment for: spasticity (baclofen), urinary dysfunction (oxybutynin), constipation (laxatives), pain (amitriptyline), fatigue (amantadine), depression (SSRIs).

Question 46

Presentation of a patient with aortic stenosis

Answer 46

1. This patient presents with a systolic murmur, most likely aortic stenosis. This is evidenced by:

Positive findings: a slow-rising pulse, narrow pulse pressure, ejection systolic murmur loudest over aortic area and radiating to carotids, soft / absent A2, reversed splitting of S2.

Negative findings: the patient did not have any palpable thrills or heaves, and was not in fluid overload.

2. The most likely cause of aortic stenosis in this patient would be: calcific degeneration, bicuspid valve, rheumatic fever, HCM.
3. Complications / severity.
4. Alternative explanation for signs would be: aortic sclerosis (normal A2), HCM, systolic flow murmur, pulmonary stenosis.
5. Investigations / management

Question 47

Investigations for a patient with aortic stenosis

Answer 47

Bedside: ECG (LVH, LBBB).

Imaging: CXR, echo (investigation of choice - to look for valvular lesions, LV dimensions and function), Doppler echo to determine severity of AS.

Question 48

Management of a patient with aortic stenosis

Answer 48

Medical:
Regular follow ups and echocardiogram.
Diuretics, digoxin, ACEi’s or ARBs (for heart failure).
Statins for secondary prevention.

Surgical:
Aortic valve replacement (+/- CABG) is the definitive treatment.
TAVI considered if open aortic valve replacement is too high risk.
Balloon valvuloplasty has a limited role, but is sometimes used as a bridge to surgery or TAVI if the patient is unstable.

Question 49

Presentation of a patient with mitral regurgitation

Answer 49

1. This patient has evidence of a systolic murmur, most likely mitral regurgitation. This is evidenced by:

Positive findings: an irregularly irregular pulse consistent with AF, thrusting apex beat, third heart sound and pansystolic murmur on auscultation. It is loudest at the apex and radiates to the axilla.

Negative findings: the patient is not clinically in heart failure and shows no signs of fluid overload.

2. Causes of mitral regurgitation include mitral valve prolapse secondary to rheumatic heart disease, papillary muscle rupture, IE, HCM and connective tissue disorders.
3. Complications / severity
4. Alternative explanation for signs
5. Investigations / management

Question 50

Investigations for a patient with suspected mitral regurgitation

Answer 50

Bedside: ECG (LVH, left strain pattern, atrial fibrillation, ischaemia).

Imaging:
Echo (assess LV function and dimensions, RV function, LA size, pulmonary artery pressure).

Doppler flow studies: size and site of regurgitant jet.

CXR: normal, cardiomegaly, large LA, pulmonary oedema.

Cardiac catheterisation

Question 51

Management of mitral regurgitation?

Answer 51

Medical:
Management of CCF: ACEi / ARBs, diuretics, eplerenone, beta-blockers.
Rate control therapy and anticoagulation for AF.
Cardiac resynchronisation therapy with biventricular pacing.

Surgical:
Aim to operate when symptomatic, prior to severe LV dilatation and dysfunction. Valvuloplasty is preferable, valve replacement, percutaneous options (MitraClip).

Question 52

Presentation of a patient with a midline sternotomy scar and S1 closing click.

Answer 52

1. This patient has likely had a valve replacement with a metallic mitral valve. This is evidenced by:

Positive findings: a metallic sounding closing click in S1 and the presence of a midline sternotomy scar.

Negative findings: the patient did not have a closing click in S2 (which would be indicative of a metallic aortic valve replacement). The patient did not have any signs of CABG such as saphenous vein harvesting leg scars, however the patient could have had a simultaneous mitral valve replacement and CABG with grafting of the left internal mammary artery (LIMA). The patient does not have bruising, which would be a sign of over-anticoagulation. There are no peripheral stigmata of subacute bacterial infective endocarditis.

2. Causes for needing a mitral valve replacement include severe mitral regurgitation or stenosis.
3. Complications / severity - there are no signs of heart failure.
4. Alternative explanation for signs (CABG + LIMA graft)
5. Investigations / management

Question 53

Presentation of a patient with suspected hypertrophic cardiomyopathy.

Answer 53

1. This patient has clinical signs consistent with hypertrophic cardiomyopathy. This is evidenced by:

Positive findings: an ejection systolic murmur at the lower left sternal edge that radiates throughout the precordium. A 4th heart sound is also heard due to blood hitting a hypertrophied stiff LV.

Negative findings: there is no evidence of mitral regurgitation or heart failure / fluid overload.

2. Causes: HCM is associated with conditions such as myotonic dystrophy and Freidreich’s ataxia.
3. Complications / severity:
4. Alternative explanation for signs
5. Investigations / management

Question 54

Investigations for a patient with suspected HCM?

Answer 54

ECG: LVH with strain (deep T-wave inversion across precordial leads)
CXR: often normal
TTE: septal hypertrophy, LVOT gradient
Cardiac MRI: identifes apical HCM more reliably than TTE
Cardiac catheterisation: gradient accentuated by ventricular ectopic or pharmacological stress. Identification of septals
Genetic tests: sarcomeric proteins mutation

Question 55

Management of a patient with HCM?

Answer 55

Asymptomatic patient: avoid strenous exercise, dehydration and vasodilators.

Symptomatic patient and LVOT gradient >30 mmHg:
Beta blockers, pacemaker, septal ablation, surgical myomectomy.

Rhythm disturbance / high risk of SCD: ICD

Refractory: cardiac transplant

Genetic counselling of first-degree relatives as it is an autosomal dominant inheritance pattern