Cardiac Tumours

Epidemiology

• Primary cardiac tumours are extremely rare
  • Metastatic tumours are 30-40 times more prevalent
  • Of all the primary tumours, myxoma is the most common, accounting for up to half of all primary benign tumours in adults
    • In children, rhabdomyomas are more common

Types

• Benign Primary tumours
  • Myxoma
    • The majority seem to be located in the left atrium and are pedunculated.  They may prolapse through the mitral valve during diastole and prevent ventricular filling.
    • They can be smooth/firm or friable/irregular.  The latter can often present with systemic embolism.
  • Papillary fibroelastomas
    • Avascular papillomas usually occurring on the mitral or aortic valves.  They don’t often cause any valvular disruption but present instead with embolic disease.  Usually found in older people.
  • Rhabdomyomas
    • Most common heart tumour in children, and commonly associated with Tuberous Sclerosis.  Most are located intramurally or free wall of the left ventricle, and can affect the conduction system.  They can regress with age but a minority can develop tachyarrhythmias/heart failure due to outflow obstruction.
  • Other types of benign tumours include fibromas (often found in childhood and associated with renal tumours or basal cell naevus syndrome); Haemangiomas; Teratomas; Lipomas; Paragangliomas (including phaeochromocytomas) and Pericardial cysts)
• Malignant tumours
  • Sarcoma
    • 2nd most common primary tumour and most common malignant primary- it affects mainly middle-aged adults and originate in the right atrium, involving the pericardium and can cause right ventricular inflow obstruction and pericardial tamponade.  It frequently metastasises to the lung.
  • Other types include lymphoma and pericardial mesothelioma.
• Metastases
  • Most common although rare in general- usually from the lung, breast or kidney cancers.

Symptoms/Signs

• Many patients can be asymptomatic (found incidentally on imaging)
• Symptoms largely depend on the size, location and character of the tumour, but there may be a triad of features
  • Valvular obstruction
    • I.e. left or right sided heart failure
      • Left sided: shortness of breath; orthopnoea; pulmonary oedema
      • Right sided: peripheral oedema; ascites; raised JVP
  • Embolic events
    • Most tend to be left sided and therefore systemic embolic events
      • Stroke or tissue/organ ischaemia
  • Constitutional symptoms
    • Weight loss, fatigue, weakness, fever, arthralgia
    • May resemble infective endocarditis
• A diastolic murmur may be audible with myxomas, and an audible ‘tumour plop’ may be heard too as the tumour passes through the mitral valve.

Investigation

• Due to the rarity of these tumours- often symptoms are investigated for other causes and diagnosis may be delayed
• Echocardiogram may detect tumours
• Cardiac MRI is used to stage tumours

Management

• Depends on the tumour type, individual patient and predicted outcome
• In general
  • Benign primary tumours should be offered excision (note that this is entirely dependent on individual and their functional status
  • Malignant primary tumours are general palliative
  • Metastatic disease should be treated depending on the primary

Brugada Syndrome

An ECG abnormality with a high incidence of sudden death in patients with structurally normal hearts.

Aetiology

• Most cases due to a mutation in a cardiac sodium channel gene (sodium channelopathy)
  • Most are spontaneous but occasionally there are hereditary cases

Features/Diagnostic criteria

• NB Can be transient and/or can be unmasked/augmented by a number of factors e.g. fever, ischaemia, drugs (notably sodium channel blockers e.g. flecainide; calcium channel blockers; alpha receptor agonists; beta blockers; nitrates; cocaine; alcohol), hypokalaemia, hypothermia, cardioversion
• ECG findings
  • Type 1
    • Coved ST segment elevation >2mm in >1 of V1-V3, followed by a negative T wave (Brugada sign)
  • Note that this is the only sign that is potentially diagnostic.  It must be associated with one of the following to make the diagnosis:
    • Episode of VF or polymorphic VT
    • Family history of sudden cardiac death <45 years old
    • Coved type ECGs in family members
    • Inducibility of VT with programmed electrical stimulation
    • Syncope
    • Nocturnal agonal respiration
  • Type 2 sign has >2mm of saddleback shaped ST elevation and type 3 can be either morphology but with <2mm elevation

Other investigations

• Where the patient is asymptomatic, it may be appropriate to carry out electrophysiological testing to try and induce VT in patients with ECG changes.  However, this is often not conclusive and does carry significant risk.
  • Alternatively, attempting to induce VT with a dose of flecainide may also help with diagnosis, but has similarly poor diagnostic capability and can be dangerous.

Management

• The only proven management for Brugada syndrome is an ICD device.

Delusional Disorder

Delusion(s) that persist for at least one month- without any other features of Schizophrenia (or mood disorder), and do not impair psychosocial functioning except from the ramifications of the delusion(s).

Background

• Less common than schizophrenia (around 0.02% prevalence) and tends to occur in middle to late adult life
• There tends not to be a large impact on daily living as with schizophrenia

Presentation

• May arise from a pre-existing personality disorder (paranoid or schizo-affective type)
• Delusion(s) can, in theory, be anything, although several subtypes are more common
  • Erotomanic type- delusions that another person is in love with them
  • Grandiose type- delusions of inflated worth, power, knowledge, identity, or special relationships to a deity or famous person/people
  • Jealous type- delusions of unfaithfulness, jealousy
  • Persecutory type- delusions that they (or someone close to them) is being malevolently treated in some way
  • Somatic type- delusions that they have a physical defect or medical condition
• Delusions can be mixed type or unspecified
• In general, patients have poor insight into their delusions

Note: it is important to differentiate between a delusion (firmly held unreasonable belief) and an over-valued idea (can be unreasonable but is rarely so firmly held).  Cultural/religious beliefs must be carefully considered.

Management

• If possible/suitable- psychotherapy (supportive therapy and/or cognitive therapy) is the most effective treatment
  • There is little evidence to support the use of pharmacological treatments, although atypical antipsychotic medications may be tried in some cases.

Arrhythmogenic right ventricular cardiomyopathy

Background

• Autosomal dominant condition characterised by abnormal cardiac proteins (potentially desmosomal proteins) which causes breakdown of the hear muscle and replacement with fibrous/fatty tissue
  • Usually affects the right side but can affect both
  • Uncommon 1:2000
• These patients are at increased risk of ventricular arrhythmias, sudden death (serious cause of sudden death in <35 year group- and accounting for around 20% of sudden cardiac deaths) and right heart failure

Pathogenesis

• Four phases
  • Concealed phase
    • Small changes to the right side of the heart.  Patients are asymptomatic
  • Overt phase
    • Symptomatic right ventricular arrhytmias associated with functional and structural changes
  • Right heart strain/failure
    • Disease affecting the entire right ventricle
  • Left ventricular impairment

Presentation

• Usually presents in young adult males
• Occasionally, patients may present with symptoms such as
  • Arrhythmias e.g. syncope, palpitations, light-headedness/dizziness
  • Shortness of breath
  • Leg swelling/abdominal distention/ascites (Right heart strain)
• Unfortunately, many patients are asymptomatic until sudden cardiac death (diagnosis made at autopsy)

Investigations

• ECG may show a slightly broad QRS complex and inverted T waves in the right precordial leads (II < III; V1 > V2)
  • Left bundle branch block is common
• ECHO and MRI scans can confirm the diagnosis (fatty deposits seen on MRI)

Management

• Implantable defibrillator is an option for patients at risk of sudden death (drug treatments such as sotalol or amiodarone + beta blocker may help)

Mild Cognitive Impairment

Definition

Isolated cognitive impairment(s) identified as abnormal (compared to expected) and representing a decline from previous level of function.  The cognitive impairment should not be so severe as to affect social or occupational functioning (at which point the diagnosis of dementia would be more appropriate).

Background

• It is uncertain whether MCI is a normal sequelae of the aging process or whether there is a pathological process underlying it
  • Risk/contributing factors include
    • Cerebrovascular events
    • Hypothyroidism and parathyroid disease
    • Malnutrition and vitamin deficiencies (e.g. B12 and folate)
    • Polypharmacy (especially sedating medications)
    • Mood disorders
    • Drug/alcohol abuse
• It is a significant risk factor for dementia (around 15% of patients with MCI progress to dementia per year (usually Alzheimer’s); and up to 50% later develop dementia)
• There are several different ‘types’ of MCI
  • Amnesic (poor memory function)- most likely to go on to develop Alzheimer’s type dementia
  • Non-amnesic MCI
    • Usually impairment of executive function e.g. ability to make sound decisions, judge time or sequences involved in complex tasks, visual perception etc

Presentation

• Most present with vague symptoms of cognitive decline (e.g. poor memory- forgetting conversations, recent events etc)
  • Quite often, relatives or close friends are more concerned
• Note that it can be difficult to tease apart what is MCI, what is normal and what could be secondary to other problems e.g. sensory impairments

Assessment

• There are several assessments commonly used to identify cognitive impairment
  • The Mini-mental state examination (MMSE) is the most commonly used in practice to quickly assess cognition
    • Addenbrooke’s testing is more extensive and is usually used for formal assessments
  • Other tests include the 6-CIT, AMT, GPCOG and the 7 minute screen.
• Other routine tests (e.g. FBC, U&Es, Calcium, Glucose, LFTs, B12/folate, TFTs) should be performed to rule out an potentially reversible cause

Management

• Coping mechanisms e.g. lists; tackling one job at a time; memory aids (clocks/watches/calendars; storage places for items such as keys/glasses; setting reminders etc)
• Patients with MCI should be followed up every so often to check that there has not been a deterioration
  • Referral to a specialist should be made if cognitive decline is thought to be impacting on daily living (i.e. dementia is being considered)

 

Subdural Haematoma

Definition, Aetiology and Pathophysiology

• Subdural haematoma/haemorrhage (SDH) is a collection of blood in the the potenital space between the dura mater and arachnoid mater of the meninges surrounding the brain.
• Can occur in any age group
  • Children – non-accidental injuries (‘shaken-baby’ syndrome)
  • Young adults – trauma e.g. road traffic accidents
  • Older adults – falls (not always obvious from history)
    • Note in older patients, brain atrophy increases the subdural space and the tension of bridging veins, making them more susceptible to injury and subsequent SDH
  • Occasionally can occur in any age group without injury (secondary to AV malformations/haemangiomas/dural AV fistulas)
• Can be defined as
  • Acute – within 72 hours (usually of trauma/injury)
  • Subacute – 3-7 days
  • Chronic – >7 days, often weeks (may not have a clear history of trauma)
• Usually caused by tearing of the ‘bridging’ veins which originate from the cortex and traverse the subdural space to drain into the venous sinuses
  • usually due to rapid acceleration/deceleration of the head
  • bleeding from a damaged cortical artery may also occur
• Note that acute symptomatic SDH carried a very high mortality/morbidity (50-90%).

Presentation

• Acute
  • Usually present following a moderate-severe head injury
    • Often co-existing cerebral contusions/bleeds (i.e. complex SDH)
  • Reduced level or loss of consciousness is the most common presentation (note that this may not be immediate)
  • Pupillary abnormalities (anisocoria or ‘blown pupil’) may be seen in up to 40%
• Chronic
  • May have a vague history or progressive symptoms
    • Falls/injury may or may not be a feature but if present, may have occurred weeks ago and/or may not be severe
    • Anorexia, nausea and vomiting are not uncommon
    • Gradually worsening focal neurology e.g. limb weakness, loss of sensation, vision or speech disturbances
    • Gradually deteriorating headaches
  • Anticoagulant use and alcohol excess are both significant risk factors.

Differential Diagnosis

• Extradural or intracerebral haemorrhages
• Meningitis or Encephalitis
• Cerebral tumour
• Stroke
• Dementia
• Other causes of reduced consciousness e.g. sepsis, DKA, hepatic encephalopathy

Investigations

• Blood tests may be normal
  • Abnormal (low) platelets or coagulation screens (including high INR) may be present
  • Group and save may be appropriate
• CT scan
  • Acute
    • Crescent shaped homogeneously hyperdense extra-axial collection diffusely spread across the affected hemisphere
      • Note some areas may be more/less dense depending on fresh vs clotted vs liquefied blood.
  • Subacute
    • Can be hard to identify on CT as the density begins to drop with clot liquefication.  Clues include
      • CSF filled sulci do not reach the skull but rather fade into the subdural space
      • mass effect (sulcal effacement/distortion i.e. flattening; midline shift)
      • apparent thickening of the cortex
      • MRI/contrast CT may be useful
  • Chronic
    • Same as acute but hypodense (the SDH becomes the same density as CSF i.e. dark as in the ventricles)
  • Important features include size and mass effect

Management

• Treatment depends on the size (mass effect) and symptoms caused by the SDH
  • Small, asymptomatic SDH (especially chronic SDH) can be managed conservatively with repeat CT scans.
  • In acute symptomatic SDH, a craniotomy is usually required to evacuate the clot (once the patient is stable for theatre)
  • In chronic/subacute symptomatic SDH, burr hole drainage is often preferred (liquefied blood more easily drained)