List II - Less Common 'Know of' Conditions

Question 1

What is a pericardial effusion?

Answer 1

• Occurs when there is excess fluid in the pericardial sac

* Normal pericardial sac contains around 30-50mL of fluid

Question 2

What are the signs/symptoms of pericardial effusion?

Answer 2

• Will relate to the speed at which the pericardial fluid has accumulated
• Acute onset will not allow the pericardium to stretch - therefore more problems
• Symptoms are related to cardiac function and intrapericardial pressure leading to an impaired filling of low pressure chambers, particularly the right atrium
• Dyspnoea and reduced exercise tolerance will be early signs, progressing to severe impaired cardiac output and death in severe cases e.g. cardiac tamponade

Question 3

What are the causes of pericardial effusion?

Answer 3

• Idiopathic (presumed viral, post-viral or immune related)
• Inflammatory
• SLE
• RA
• Scleroderma
• Sjogren syndrome
• Vasculitis
• Post MI - Dressler syndrome
• Infectious
• Viral
• Bacterial
• Tuberculosis
• Post surgical or traumatic
• Pulmonary arterial hypertension
• Radiotherapy
• Malignancy
• Pericardial mesothelioma
• Metastatic
• Paraneoplastic
• Endocrine
• Hypothyroidism

Question 4

What are the radiological signs of pericardial effusion?

Answer 4

X-ray

* Global enlargement - water bottle sign

Question 5

What is the treatment of pericardial effusion?

Answer 5

• Small - conservative treatment

* Large - pericardiocentesis to drain the fluid

Question 6

What is the most common cardiomyopathy?

Answer 6

• Dilated cardiomyopathy - 90% of cases of myopathy

Question 7

What are the causes of dilated cardiomyopathy?

Answer 7

• Idiopathic - most common
• Myocarditis - coxsackie B, HIV, diptheria, Chagas disease
• Ischaemic heart disease
• Peripartum
• Hypertension
• Iatrogenic e.g. doxorubicin
• Substance abuse e.g. alcohol, cocaine
• Inherited: familial to DCM or specific to a syndrome e.g. Duchenne muscular dystrophy
• 1/3 genetic
• Majority of genetic are autosomal dominant
• Infiltrative e.g. haemochromatosis, sarcoidosis

(+ these causes may also lead to restrictive cardiomyopathy)
- nutritional e.g. wet beriberi (thiamine deficiency)

Question 8

What is the pathophysiology of DCM?

Answer 8

• Dilated heart leading to predominately systolic dysfunction
• All 4 chambers are dilated, but the left ventricle more so than right ventricle
• Eccentric hypertrophy (sarcomeres added in series) is seen

Question 9

What are the clinical features of DCM?

Answer 9

• Classic findings of heart failure
• Systolic murmur: stretching of valves may result in mitral and tricuspid regurgitation
• S3
• Balloon appearance of heart on the chest x-ray

Question 10

What is takotsubo cardiomyopathy?

Answer 10

• Type of non-ischaemic cardiomyopathy associated with a transient, apical ballooning of the myocardium
• May be triggered by stress

Question 11

What is the pathophysiology of takotsubo cardiomyopathy?

Answer 11

• Japanese word for octopus trap
• Apical ballooning appearance occurs due to severe hypokinesis of the mid and apical segments with preservation of activity of the basal segments
• Simple terms
• Bottom of the heart (apex) does not contract therefore appears to balloon out
• Top (base) continues to contract creating the neck of the octopus trap

Question 12

What are the clinical features of takotsubo cardiomyopathy?

Answer 12

• Chest pain
• Features of heart failure
• ECG: ST elevation
• Normal coronary angiogram

Question 13

What is the management of patients with Takotsubo cardiomyopathy?

Answer 13

• Treatment is supportive

* Most patients improve with supportive treatment

Question 14

What are the primary cardiomyopathies?

Answer 14

• Genetic - both autosomal dominant
• Mixed
• Acquired

Question 15

What are the genetic primary cardiomyopthies?

Answer 15

• Hypertrophic obstructive cardiomyopathy
• Leading cause of sudden cardiac death in young athletes
• Usually due to a mutation in the gene encoding B-myosin heavy chain protein
• Common cause of sudden death
• Echo findings include MR, systolic anterior motion (SAM) of the mitral valve and asymmetric septal hypertrophy
• Arrhythmogenic right ventricular dysplasia
• Right ventricular myocardium is replaced by fibrofatty tissue
• Around 50% of patients have a mutation of one of the several genes which encode components of desmosome
• ECG abnormalities in V1-3, typically T wave inversion
• Epsilon wave is found in about 50% of those with ARV - this is best described as a terminal notch in the QRS complex

Question 16

What are the mixed primary cardiomyopthies?

Answer 16

* Dilated cardiomyopathy
Classic causes
- Alcohol
- Coxsackie B virus
- Wet beriberi
- Doxorubicin

* Restrictive cardiomyopathy
Classic causes
- Amyloidosis
- Post-radiotherapy 
- Loeffler's endocarditis

Question 17

What are the acquired primary cardiomyopthies?

Answer 17

• Peripartum cardiomyopathy
• Typically develops between last month of pregnancy and 5 months post-partum
• More common in older women, greater parity and multiple gestations
• Takotsubo cardiomyopathy
• Stress induced cardio-myopathy e.g. patient just found out family member dies then develops chest pain and features of heart failure
• Transient, apical ballooning of the myocardium
• Treatment is supportive

Question 18

What are the secondary causes of cardiomyopathy?

Answer 18

• Infective - coxsackie B virus, Chagas disease
• Infiltrative - amyloidosis
• Storage - haemochromatosis
• Toxicity - doxorubicin, alcoholic
• Inflammatory - sarcoidosis
• Endocrine - DBM, thyrotoxicosis, acromegaly
• Neuromuscular - Friedreich’s ataxia, Duchenne-Becker muscular dystrophy, myotonic dystrophy
• Nutritional deficincies - Beriberi (thiamine)
• Autoimmune - SLE

Question 19

What are the 3 main reasons for ischaemia to the lower GI tract/bowel ischaemia?

Answer 19

• Acute mesenteric ischaemia
• Chronic mesenteric ischaemia
• Ischaemic colitis

Question 20

What are the common predisposing factors in bowel ischaemia?

Answer 20

• Increasing age
• Atrial fibrillation - particularly for mesenteric ischaemia
• Other causes of emboli
• Endocarditis
• Malignancy
• Cardiovascular disease risk factors
• Smoking
• Hypertension
• Diabetes
• Cocaine use
• Ischaemic colitis is sometimes seen in young patients following cocaine use

Question 21

What are the common clinical features in bowel ischaemia?

Answer 21

• Abdominal pain - in acute mesenteric ischaemia this is often of sudden onset, severe and out of keeping with physical exam findings
• Rectal bleeding
• Diarrhoea
• Fever
• Bloods typically show an elevated white blood cell count associated with a lactic acidosis

Question 22

What is the diagnostic imaging of choice for bowel ischaemia?

Answer 22

• CT

Question 23

What are the features of acute mesenteric ischaemia?

Answer 23

• Typically caused by an embolism resulting in occlusion of an artery which supplies the small bowel e.g. superior mesenteric artery
• Classically a history of atrial fibrillation
• Abdomen pain is typically severe, of sudden onset and out of keeping with physical exam findings

Management

• Urgent surgery usually required
• Poor prognosis, especially if surgery is delayed

Question 24

What are the features of chronic mesenteric ischaemia?

Answer 24

• Relatively rare condition due to its non-specific features and may be thought of as intestinal angina
• Colicky intermittent abdominal pain occurs

Question 25

What are the features of ischaemic colitis?

Answer 25

* Ischaemic colitis describes an acute but transient compromise in the blood flow to the large bowel * May lead to inflammation, ulceration and haemorrhage * More likely to occur in watershed areas such as the splenic flexure that are located at the borders of the territory supplied by the superior and inferior mesenteric arteries Investigations * Thumb-printing may be seen on abdominal x-ray due to mucosal oedema/haemorrhage Management * Usually supportive * Surgery may be required in a minority of cases if conservative measures fail * Indications would include generalised peritonitis, perforation or ongoing haemorrhage

Question 26

What is superior vena cava obstruction?

Answer 26

* Oncological emergency caused by compression of the SVC | * Most commonly associated with lung cancer

Question 27

What are the features of SVCO?

Answer 27

* Dyspnoea is most common symptom * Swelling of the face, neck and arms - conjunctival and periorbital oedema may be seen * Headache - often worse in the mornings * Visual disturbance * Pulseless jugular venous distention

Question 28

What are the causes of SVCO?

Answer 28

* Common malignancies - Small cell lung cancer, lymphoma * Other malignancies - Metastatic seminoma - Kaposi's sarcoma - Breast cancer * Aortic aneurysm * Mediastinal fibrosis * Goitre * SVC thrombosis

Question 29

What is the management of SVCO?

Answer 29

If suspected: * 16mg dexamethasone (with PPI cover) * Depending on the cause: - Vascual stent (radiological guidance) - Radiotherapy - Chemotherapy - LMWH (if confirmed thrombus) More notes in CCC

Question 30

What is raynaud's phenomenon?

Answer 30

* Characterised by an exaggerated vasoconstriction response of the digital arteries and cutaneous arteriole to the cold or emotional stress * Primary - Raynaud's disease * Secondary - Raynaud's phenomenon

Question 31

Who is affected by Raynaud's disease?

Answer 31

* Typically presents in young women e.g. 30 years old with bilateral symptoms

Question 32

What are the causes of secondary Raynaud's phenomenon?

Answer 32

* Connective tissue disorders - Slceroderma - Rheumatoid arthritis - SLE * Leukaemia * Type I cryoglobulinaemia, cold agglutins * Use of vibrating tools * Drugs - COCP, ergot * Cervical rib

Question 33

What are the factors of Raynaud's phenomenon suggesting connective tissue disease?

Answer 33

* Onset after 40 years * Unilateral symptoms * Rashes * Presence of autoantibodies * Features which may suggest rheumatoid arthritis or SLE for example arthritis or recurrent miscarriages * Digital ulcers, calcinosis * Very rarely: chilblains

Question 34

What is the management of all patients with suspected secondary Raynaud's phenomenon?

Answer 34

* Referral to secondary care * First line - calcium channel blockers e.g. nifedipine * IV prostacyclin (epoprostenol) infusions: effects may last several weeks/months

Question 35

What is lymphoedema?

Answer 35

* Long term swelling that develops due to a fault with the lymphatic drainage system

Question 36

What causes lymphoedema?

Answer 36

* Primary (rare) - failure of development of the lymphatic system * Secondary - person with a previously healthy lymphatic system develops a problem or illness that damages it and prevents it from working properly

Question 37

What are the secondary causes of lymphoedema?

Answer 37

* Cancer treatment - node removal * Infection - damage to lymph nodes * Severe inflammatory problems - acne, genital hidradenitis suppurativa, psoriasis, dermatitis * Reduced mobility/paralysis * Vein problems * Obesity

Question 38

What are the treatments for lymphoedema?

Answer 38

* Management is aimed at controlling swelling through physical treatments designed to stimulate flow through existing or collateral drainage routes * Mild/moderate can be treated with exercise plus fitted compression bandaging * More severe cases intensive compression bandaging * Compression in combination with exercise, weight management and good skin care can be very effective (British Association of Dermatologists)