PACES Station 3 Flashcards
Presenting Cardiac Cases
No stigmata of endocarditis
Pulse rate is…, regular/irregular, volume, character
Venous pressure
On examination of chest…
Clinical Features of Aortic Stenosis
Slow rising pulse, low volume (severe)
Venous pressure not elevated
Undisplayed heaving apex
Soft second heart sound
Fourth heart sound (not in AF), forced atrial contraction
Ejection systolic murmur, louder in expiration and radiating to carotids
Causes of aortic stenosis
Common:
- bicuspid aortic valve
- degenerative calcification
- rheumatic valve disease
- congenital
Rare:
- Infective endocarditis
- Hyperuricaemia
- Pagets disease of bone
Differential Diagnosis for Ejection Systolic Murmur
Aortic stenosis
HOCM
Supravalvular aortic stenosis (Williams syndrome)
Classifying severity in Aortic Stenosis
Aortic valve area:
- normal 3-4cm2
- mild >1.5cm
- moderate 1-1.5cm2
- severe <1cm
Pressure gradient:
- encorporates aortic valve area, cardiac output and heart rate
- severe is mean gradient >50mmHg
What is aortic sclerosis?
Mild thickening/calcification of trileaflet aortic valve
Absence of outflow obstruction
Affects 1/4 over 65s
Progressive and overtime leads to stenosis
Inc risk of MI and cardiovascular mortality
Atherosclerosis as common aetiology
Clinically differentiating aortic stenosis and sclerosis
Normal pulse volume and character in sclerosis
Localised murmur without radiation
Causes of reversed splitting of second heart sound
Severe aortic stenosis LBBB HOCM PDA WPW B
Complications of aortic stenosis
LVF Sudden death Pulmonary HTN Arrhythmia - AF and VT Heart block IE Systemic emboli Haemolytic anaemia
Management of asymptomatic patient
Ask to report symptoms of angina, palpitations, syncope and breathless
Regular screening
If become symptomatic may warrant valve replacement
Mechanism of Angina in AS
May have normal angio
but hypertrophied left ventricle has decreased blood flow reserve so sensitive to ischaemic injury
Mechanism of Syncope in AS
low cardiac output state
arrhythmia
Investigation of AS
ECG: LVH, left atrial hypertrophy (bifid Pwaves in II), LAD, conduction abnormalities
CXR: rib notching (sign of coarctation), calcification of valve, cardiomegaly (late), prominent pulmonary arteries (pHTN)
Echo: LV function, aortic valve area
Angio: exclude coronary artery disease as cause of symptoms, all being considered for replacement need
Indications for Aortic Valve Replacement in AS
Symptomatic severe >50mmHg
Asymptomatic moderate/severe undergoing other cardiac surgery e.g. bypass, other valve
Asymptomatic Severe AS plus any of the following: - LV dysfunction - abnormal BP response to exercise - VT Valve area <0.6
Williams Syndrome
Rare genetic condition: elfin facies, cardiovascular anomalies, mental retardation, sensorineural deficit, high calcium
Cardiac anomalies include supravalvular aortic stenosis, pulmonary stenosis, MR
Deletion in elastin gene chr 7
Role of statins in AS
Atherosclerotic process
Use of statins to slow progression
However recent study (SALTIRE) did not show statins to significantly slow progression calcific aortic stenosis
Clinical Features of Mitral Stenosis
Irregular low volume pulse (often in AF)
Elevated JVP
Malar flush (low cardiac output state)
Undisplayed tapping apex
Loud first heart sound (if mobile and pliable leaflets)
Opening snap and mid diastolic rumbling murmur heard best in expiration in left lateral position
Features of CCF
Early diastolic murmur at left sternal edge - graham steell murmur of pulmonary regard
Causes of Mitral Stenosis
Rheumatic fever Congenital RA SLE Carcinoid syndrome Fabrys disease
Causes of mid-diastolic rumbling murmur
Left atrial mass (myxoma)
Left atrial thrombus
Severe MR (inc flow across valve)
Pathophysiology of Mitral Stenosis
Normal area 4-6cm2
<2.5cm2 impedes free flow over blood and leads to increased left atrial pressure
Critical stenosis if <1cm2 leads to pulmonary congestion and mimics left ventricular failure but with preserved LV contractility
Clinical Markers of Severe Mitral Stenosis
Early opening snap Increased length of murmur Signs of Pulmonary HTN Signs of Pulmonary congestion Graham-Steel murmur (PR) Low pulse pressure
Complications of mitral stenosis
Left atrial enlargement AF + left atrial thrombus Pulmonary HTN Pulmonary oedema RHF
Differential Diagnosis for Malar Flush
Mitral stenosis Hypothyroidism Cold weather Carcinoid syndrome SLE SS Irradiation Polycythaemia
Management of Mitral Stenosis
Asymptomatic in sinus - endocarditis prophylaxis, regular follow up with echo
Manage AF
Symptomatic - diuretics, as surgery worsens then for surgery
Surgery: closed/open commisurotomy, mitral valve replacement
Indications - pulmonary HTN, haemoptysis, recurrent thromboembolic events despite anticoag
Criteria for Valvuloplasty in Mitral Stenosis
Mobile valve
Minimal calcification
No MR
No left atrial thrombus
Cause of Hoarse Voice in Mitral Stenosis
Enlarged left atria compresses recurrent laryngeal nerve leading to vocal cord paralysis
(Ortners syndrome)
OR
Hypothyroidism from amiodarone used to treat AF
Clinical Features of Prosthetic Aortic Valve
No features of endocarditis Prosthetic click after carotid pulse Midline sternotomy scar, check for any venous harvest scars re:CABG Ejection systolic murmur Anaemia?
Any features of heart failure to suggest valve is functioning well
Any complications of anticoagulation visible
NG Double click suggests -Starr-Edwards ball and cage prosthesis
Indications for Aortic Valve Replacement
Severe AS gradient >50mmHg and symptomatic
Asymptomatic AS moderate/severe but needs CABG anyway
Severe AS with LV dysfunction, abnormal BP in exercise, VT, valve area <0.6cm2
Symptomatic severe AR
Asymptomatic AR undergoing surgery anyway
AR with severe LV dysfunction (EF<50%)
Other:
IE failed medical therapy
Enlarging aortic root diameter
Acute severe AR - ruptured valsalva aneurysm
Different types of prosthetic valve
Mechanical
-starr-edwards ball and cage - high incidence of haemolysis
Medtronic-Hall - tilting disc valve
Xenografts
-porcine or pericardial
Cadaveric
Indications for Bioprosthetic Valve over Metallic
Where anticoag is contraindicated
Shorter life expectancy
>70 years as rate of degeneration slower in this age group
Complications of prosthetic valve
Thromboembolism Anticoag complications Valve dysfunction Endocarditis Haemolysis
Causes of anaemia in patient with prosthetic valve
Blood loss secondary to anticoag
Haemolysis
Endocarditis
Clinical Features of Prosthetic Mitral Valve
No stigmata of endocarditis Pulse features Anaemia Prosthetic click coincides with first heart sound (with carotid pulse) or 2 clicks (Starr-Edwards) Midline sternotomy scar Any features of pulmonary HTN
Indications for Mitral Valve Replacement
Stenosis with pulmonary congestion, pHTN, haemoptysis or recurrent thromboembolic events
Regurg with LV dysfunction, EF<60%
Clinical Features of Mitral Regurg
No features of endocarditis Pulse blah blah Displaced and thrusting apex Pan systolic murmur radiating to axilla Any signs of pulmonary HTN/congestion - if present then loud pulmonary component of second heart sound
Causes of MR
Rheumatic fever Mitral valve prolapse IE LV dilatation (functional MR) Marfans Ehlers-Dalos OI RA SLE Cardiomyopathy
Mechanism of Functional MR
In LV dysfunction get dilatation of mitral valve annulus and lateral displacement of papillary muscles
Clinical Signs of Severe MR
Features of pulmonary HTN Features of pulmonary congestion Displaced apex Third heart sound Soft first heart sound Precordial thrill
Differential Diagnosis for Pansystolic Murmur
Mitral regurgitation
Tricuspid regurgitation - pulsatile liver, no radiation to axilla, louder left sternal edge
VSD - heard throughout precordium, smaller defect = louder murmur
Management of MR
Asymptomatic
- annual echo
- endocarditis prophylaxis
Manage AF
Manage HF - diuretics, ACEi, beta blocker
Indications for surgery:
NYHA III despite optimum medical therapy
EF falls below 60% consider
Clinical Features of Aortic Regurgitation
No features of endocarditis Large volume collapsing pulse Wide pulse pressure JVP not elevated Displaced, thrusting apex Early diastolic murmur at left sternal edge loudest with patient leaning forward in expiration
Corrigans sign - visible carotid pulsation
Quinkes sign - capillary pulsation in fingernails
De Mussets sign - head nodding with each heart beat
Causes of AR
Bicuspid aortic valve HTN Rheumatic fever Aortitis - Takayasus, ank spond, Reiters, psoriatic arthropathy RA SLE CTD: marfans, ehlers-danlos
Acute causes: dissection, IE, ruptured sinus of valsalva aneurysm
Clinical Signs of Severe AR
Wide pulse pressure Long duration murmur Third heart sound Austin-Flint murmur Signs of pHTN Signs of LVF
What is an Austin-Flint Murmur
Low frequency mid-diastolic murmur heart at apex caused by aortic regarg jet on anterior mitral valve leaflet (mimics MS)
Causes of collapsing/bounding pulse
AR Anaemia Fever Pregnancy Thyrotoxicosis PDA AV fistula
Role of vasodilators in AR
reduce systolic BP as HTN will increase wall stress
ACEi/nifedipine recommended for symptomatic patients
Clinical Features of Mitral Valve Prolapse
Late systolic crescendo-decresendo murmur loudest at left sternal edge
Hx: palpitations, atypical chest pains, fatigue, dyspnoea, anxiety
Causes of Mitral Valve Prolapse
Primary
Secondary to :
Marfans - high palate, arachnodactyly, pectus excavatum
Ehlers-Dalos - blue sclera, hyper extensible skin, purpura/poor skin healing
Pseudoxanthoma elasticum - pluck chicken skin
OI: blue sclera, hearing aids
PCKD: scars, RRT
SLE
Complications of Mitral Valve Prolapse
Stroke Chordal rupture Endocarditic Arrhythmia (long QT) Sudden death
Pathophysiology of mitral valve prolapse
Collagen dissolution results in myxomatous degeneration. Stretching of leaflets and chordae tendinae
Differential diagnosis for Mitral Valve Prolapse Murmur
AS
PS
HOCM
Trivial MR
Management of MVP
Reassure asymptomatic
Endocarditis prophylaxis in those with audible click/murmur
Treat arrhythmia
Treat atypical chest pain with simple analgesia and beta blockers
Clinical Features of Pulmonary HTN
Raised JVP with prominent a wave and giant v wave Pulse ? AF, ? slow due to rate control Undisplayed apex Parasternal heave Loud pulmonary component of S2 Pan systolic murmur if functional TR Sacral and pedal oedema
Definition of Pulmonary HTN
Mean pulmonary artery systolic pressure of >25mmHg at rest
Causes of Secondary Pulmonary HTN
- Increased pulmonary venous pressure:
- LV dysfunction
- Mitral/aortic valve disease - Decreased area of pulmonary vascular bed
- PE
- ILD
- Collagen vascular disease - Chronic Hypoxia
- COPD
- ILD
- OSA
- Neuromusclar disease - Left to right shunt
- ASD/VSD
Primary Pulmonary HTN
Rare disease effecting children and young adults with pHTN without demonstrable cause
1/10 are familial
Associated with CTD and HIV
Investigations for Pulmonary HTN
ECG for evidence of Right heart strain/left ABG CXR: prominent vasculature, oligaemic lung fields, may have large heart or evidence of lung pathology suggesting underlying cause Echo CTPA/VQ to exclude clot Lung functions HRCT - ILD Right and left heart catheterisation
Treatment of secondary pulmonary HTN
Treat underlying cause Diuretics for congestive symptoms LTOT Anticoag if VTE Vasodilator therapy - prostacyclins
Treatment of Primary Pulmonary HTN
Diuretics for congestive symptoms to reduce preload to right heart
Anticoag
Vasodilators - nifedipine, prostacyclin analogues
Surgery - atrial septostomy (create right to left shunt)
Transplant
Clinical Features of VSD
Parasternal thrill
Pan systolic murmur all over chest, loudest at left sternal edge
Absence of pulmonary HTN or LV enlargement suggests it is haemodynamically insignificant
Causes of VSD
Congenital:
Maternal factors - diabetes, PKU, alcohol consumption
Aneuploid syndromes eg trisomy 21, digeorge deletion 22
Acquired:
Post MI
Iatrogenic
Classification of VSD
Perimembranous - most common
Supra-cristal, infundibular - rare
Muscular
Posterior
Complications of VSD
IE Pulmonary HTN Aortic regurgitation LV dysfunction Eisenmengers Arrhythmia
Mechanism of spontaneous closure of VSD
Hypertrophy of muscular septum
Formation of fibrous tissue
Sub aortic tags
Investigations of VSD
CXR - large defect cardiomegaly and features of pulmonary HTN
ECG - large defect LV hypertrophy
Echo - location, size and direction of shunt, function and pressures
Management of VSD
Small - reassure, prophylaxis, encourage living normal life
Larger - prophylaxis, diuretics for symptoms, treat LV dysfunction, closure if no contraindications
Contraindications to VSD closure - severe irreversible pulmonary HTN
Clinical Features of ASD
Fixed splitting of second heart sound
Ejection systolic murmur at upper left sternal edge
Absence of pulmonary HTN suggests haemodynamically insignificant shunt
Types of ASD
Ostium secundum
Ostium primum
Sinus venosus ASD
Coronary sinus ASD
Mechanism of widely split S2 in ASD
Left to right shunt
Increased right heart volume so slower for P2 to close
Complications of ASD
Arrhythmia Pulmonary HTN Eisenmengers IE Paradoxical embolism
Clinical Features of Coarctation of Aorta
Developed upper torso compared to lower torso
Pulse differential?? left diminished in correction proximal to left subclavian artery (pre ductal - infantile)
Vigorous carotid pulsation
Bruit and thrills over collaterals of scapula
Ejection systolic murmur
Left thoracotomy scar if repaired
Different types of coarctation
Infantile - pre ductal - proximal to origin of left subclavian, heart failure in infancy
Adult - post ductal, presents between 15-30 years of age
Cardiac conditions associated with coarctation
Bicuspid aortic valve PDA VSD Mitral valve anomaly Transposition of Great Vessels Hypo plastic left heart
Non-cardiac associations with coarctation
Turners syndrome
Berry aneurysm
Haemangiomas
Renal abnormalities
Where do collaterals arise in long standing coarctations
Internal mammary to external iliac
Spinal and intercostal arteries to descending aorta (rib notching)
Complications of coarctation
HTN
Endocarditis
Hypoplastic limbs depending on site and severity
LV dysfunction
Clinical Features of PDA
No features of endocarditis Large volume collapsing pulse Parasternal heave Left subclavian thrill Continous machinery murmur in left subclavicular area
IF features of pulmonary HTN/congestion then haemodynamically significant
Also comment on any cyanosis/clubbing
Pathophysiology of PDA
Derived from 6th aortic arch
As fetes diverts blood from pulmonary artery into systemic circulation, promoted by prostaglandin E2
Functional closure 15hrs after birth due to breathing and increased pO2
Causes of PDA
Prematurity Low birth weight Maternal NSAID use (prostaglandins antagonist) Maternal rubella High altitude Fetal alcohol syndrome Maternal phenytoin
Main complications of PDA
LV dysfunction IE Pulmonary HTN Eisenmengers Ductal aneurysm/rupture
Clinical Features of Pulmonary Stenosis
Ejection systolic murmur with prominent a wave in JVP (not elevated), parasternal heave
Louder in inspiration (unlike aortic stenosis)
Signs of right heart failure without pulmonary congestion
Causes of Pulmonary Stenosis
Congenital
Rheumatic
Carcinoid
Noonans
Congenital rubella - supravalvular
TOF - subvalvular
Grading pulmonary stenosis
Area
Severe <0.5cm2
Transvalvular gradient
severe >80mmHg
Noonans Syndrome
Autosomal dominant/sporadic
Male phenotypic form of Turners but karyotype XX/XY
MSK: short stature, webbed neck, wide spaced nipples
Cardiac: pulmonary stenosis, Hypertrophic cardiomyopathy, ASD/VSD
Facies: triangular, ptosis, strabismus, high nasal bridge
Haem: vWF, coag defects
Small genitalia, undescended testes
Watsons Syndrome
Noonans + Neurofibromatosis
Clinical Features of Tetralogy of FAllot
Central cyanosis Clubbing Diminished left radial pulse Smaller left arm Thoracotomy scar Parasternal heave Loud ESM (pulm)+ early diastolic murmur (aortic)
What are the components of TOF
VSD
Pulmonary infundibular stenosis
Right ventricular hypertrophy
Overriding aorta
Complications of TOF
Cyanotic spells Endocarditis RHF Polycythaemia Paradoxical emboli Cerebral abscess
Causes associated with TOF
Catch22 digeorge
Fetal alcohol syndrome
Maternal PKU
Black-Taussig shunt
Palliative procedure used in TOF (not common anymore)
Anastomosis of subclavian artery and pulmonary artery thus bypassing right ventricular outflow obstruction
Would have thoracotomy scar and absent left radial pulse, otherwise healed
Clinical Features of Eisenmengers
Central cyanosis and pulmonary HTN!!!
Clubbing
Features of underlying defect e.g. VSD, ASD, PDA
What happens to VSD murmur in Eisenmenges
As right to left shunt develops, pressure equalises and murmur disappears.
A murmur in VSD and eisenmengers is likely functional TR
Hypertrophic Cardiomyopathy
Jerky pulse with double carotid impulse Prominent a waves Double apical impulse, undisplaced, heaving Reversed splitting S2 4th heart sound Pansystolic/ESM (LV outflow obstruction)
Difference between Hypertrophic Cardiomyopathy and HOCM
HCM common, only with evidence of LV outflow gradient is HOCM
Genetics of HCM
Autosomal dominant, 50% familial.
Over 200 distinct mutations identified, multiple chromosmes
Complications of HCM
Heart failure (diastolic in early) AF Arrhythmia Sudden death Angina Endocarditis
Markers of Poor Prognosis in HCM
History of syncope Family hx of sudden death Non sustained VT on Holter Marked LV wall thickness Drop in BP during exercise
reasons for Angina in HCM despite normal angio
Increased muscle mass
Decreased capillarity density
Abnormal intramural coronal arteries
Increased myocardial O2 consumption
Investigations of HCM
ECG: LV hypertrophy, LAD, LA dilatation - bifid p waves in V1-V2, Q was in II, III and avF, ST/T wave changes, AF
CXR: cardiomegaly in late, large left atrial appending and double right heart border
Echo: LV hypertrophy, asymmetry septal hypertrophy, dynamic LV outflow obstruction, diastolic/systolic dysfunction
Exercise treadmill: ischaemia, inducible arrhythmia
Holter; arrythmias
Conditions associated with HCM
WPW
Friedrichs ataxia
Management of HCM
Endocarditis prophylaxis, education, screening
Without outflow obstruction:
- no therapy if asymptomatic
- if symptoms then beta blocker or verapamil, diuretics, ACEi, treat AF, ICD for ventricular arrthmias
With outflow obstruction All get beta blockers Treat AF, diuretics ICD Alcohol septal ablation - controlled septal MI by injecting alcohol into septal arteries to reduce obstruction, alternative to surgical myomectomy. - risk of VSD/heart block.
Clinical Features of Parkinsons Disease
Expressionless facies (hypomimia)
Bradkinesia - ask to open and close hands repeatedly or tap foot
Reduced blink rate
Soft speech (hypophonia)
Blepharoclonus - eye lid tremor when eyes gently closed
Tremor 4-6Hz, resting, pill rolling often asymmetric, enhanced by mental activity
Lead pipe rigidity - inc tone throughout passive movement
Cog wheeling
Forward stooping posture with lowered head and flexed knees and elbows
Shuffling small steps gait with reduced arm swing
May have loss of postural reflexes
Look for features of parkinson plus incl gaze palsy
TO end: measure postural BP, MMTS, handwriting and assess skin (seb dermatitis)
What is Parkinsonism?
Movement disorder characterised by bradykinesia and at least 1 of tremor, rigidity and postural instability
Causes of Parkinsonism
Idiopathic Drugs: valproate, metoclopramide, prochlorperazine Tumour of basal ganglia Lewy Body Dementia Dementia pugilistica Normal pressure hydrocephalus Wilsons Anoxic brain injury Parkinsons plus: -MSA, PSP, Corticobasal degeneration
Aetiology of Idiopathic Parkinsons Disease
Neurodegenerative condition caused by disruption of dopaminergic neurotransmission in basal ganglia. Loss of production in substantia nigra and presents of cytoplasmic inclusions (lewy bodies) also seen in LBD and Alzheimers
Distinguishing between PD and Parkinsonism
PD - asymmetric at first, progressive, good response to levodopa
Parkinsonism - rapid progression, symmetrical and responds badly to levodopa
Parkinsons Plus: Multiple Systems Atrophy
Parkinsonism with autonomic failure, cerebellar dysfunction and pyramidal signs.
Parkinson’s Plus: Progressive Supranuclear Palsy
Abnormal vertical then horizontal gaze Prominent falls Speech and swelling difficulties Frontal symptoms - apathy, cognitive decline, depression More axial than limb rigidity
Parkinsons Plus: Corticobasal degeneration
High cortical abnormalities - limb apraxia and sensory loss - (alien limb)
Myoclonus
Dementia
Differentiating tremor of parkinson vs BET
Essential tremor - symmetrical, worse with voluntary movements, accompanied by voice or head tremor, large writing
PD - asymmetrical, postural component but prominent tremor at rest, micrographia
Management of Parkinsons Disease
Watch and wait till symptoms need treating
- Dopaminergics - levodopa, Dopamine agonist (Bromocriptine), MAO-B inhibitors (Selegilline)
Cause motor fluctuations, dyskinesias - Anticholinergics
- COMT inhibitors (entacapone)
decrease GI breakdown of levodopa thus reducing off time and increasing on time - Subcut apomorphine
Postural hypotension in PD
Can be due to disease process and pharmacotherapy - can use fludrocortisone / midodrine
Surgical therapies available in PD
Thalmotomy
Pallidotomy
Subthalmotomy
Deep brain stimulation - will have something like a pacemaker
Clinical Features of Charcot-Marie-Tooth Disease (lower limb)
Lower limbs:
- distal wasting (especially anterolateral muscle compartment leading to inverted champagne bottle)
- check for scars to suggest traumatic cause of foot drop
- Palpable popliteal nerve
- bilateral pes Casus and clawing of foot (high arch doesn’t flatten when weight bear)
- Symmetrical distal weakness and bilateral foot drop (check shoes for signs of orthotics/scuff marks)
- Absent deep tendon and planters
- Stocking sensory loss (later on)
- High stepping gait
- Rombergs positive as sensory ataxia
Motor+sensory neuropathy with pes cavus and or palpable nerves = CMT
Clinical Features of C-M-T Upper Limb
Distal wasting of upper limbs
Wasting of small muscle hands (guttering)
Hyperextension of MCPs and flexion at IPs resulting in claw hand
Absent deep tendon reflexes
Symmetrical glove distribution of sensory loss
May have postural tremor
Pathogenesis of Pes Cavus in CMT
Weakening of anterior tibialis and perineal muscles. Posterior muscles antagonised and pull harder. Imbalance results in deformity
Causes of Pes Cavus
Unilateral:
- malunion of previous fracture
- burns
- poliomyelitis
- spinal trauma/tumour
Bilateral:
- CMT
- Freidrichs ataxia
- Spinal muscular atrophy
- CP
- Spinal cord tumours
Different types of CMT (HSMN)
Hereditary sensory motor neuropathies. A heterogenous group with multiple underlying genetic mutations
1 - demyelination, autosomal dominant, palpable nerves
2 - axonal degeneration
3 - demyelinating, infantile onset and more severe
Why are pain and temperature usually unaffected in CMT
- carried by unmyelinated fibres and most CMT is process of demyelination
Histology of nerves in CMT
Onion bulb appearance
As a result of demyelination, schwann cells proliferate and form concentric arrays of remyelination. Get build up of thick layers of abnormal myelin
Management of CMT
Symptomatic MDT Patient education and advice Exercise to maintain function - physic Walking aids Orthotics for foot drop OT Analgesia for neuropathic pain Orthopaedic surgery
Clinical Features of MND
Dysarthria
Nasal quality speech
Wasted flaccid tongue with prominent fasciculations
Palatal paralysis
Normal eye movements (oculomotor nerves not involved)
Upper limbs: proximal and distal wasting with fasciculations, hypertonia and hyperreflexia, normal sensation
Lower limbs: as above + angle clonus and bilateral extensor plantars
To finish assess respiratory function
What is MND?
Progressive disorder characterised by neuronal loss at all levels of motor system
Physical signs therefore include upper and lower motor neurones
4 different types
- Amyotrophic lateral sclerosis - both upper and lower
- Progressive muscular atrophy - predominantly lower
- Primary lateral sclerosis - predominantly upper
- Progressive bulbar palsy - predominantly bulbar or pseudobulbar
Pathophysiology of MND
Unclear. Theories include
Excitotoxicity hypothesis: amino acid neuromodulators such as glutamate become toxic at supra physiological concentrations. These trigger calcium influx stimulating cascade resulting in free radical formation and neuronal death
Free radical hypothesis:
Diseases that mimic MND
UMN & LMN:
- syringomyelia (also may have horners)
- cervical myelopathy - no bulbar signs
UMN: spinal tumours, HIV myelopathy
LMN:
- chronic inflammatory demyelinating polyneuropathy
- Spinal muscular atrophy
- Old polio
Prognosis in MND
Worse in older age at onset, female, bulbar onset
Mean age onset 60
Mean survival 3-5years from onset
Management of MND
MDT - supportive
- Symptom control, QOL
- planning for palliative care early
- anticholinergics for drooling
- dietary advice/PEG feeding
- SALT for communication difficulties
- Quinine/diazepam for fasciculations and cramps
- Baclofen and physic for spasticity
- Consider NIV fro respiratory support
Riluzole - disease modifying effects, 3 month increased survival, doesn’t help symptoms
Clinical Features of Cerebellar Syndrome
Ataxic on side of lesion
Ipsilateral dysdiadochokinesia, dysmetria and intention tremor which worsens closer to target
Rebound phenomenon - failure of displaced arm to find original position when eyes closed
Impaired heel shin test
Hypotonia
Nystagmus with fast component to side of lesion
Broad based gait with tendency to fall to side
Slurred speech with staccato character
All features ipsilateral
Features of underlying cause
MS - internuclear ophthalmoplegia
Alcohol - liver disease, peripheral neuropathy
Friedrichs ataxia - pes Casus
Paraneoplastic - bilateral signs, clubbing, horners, anti Hu (SLCL), anti Yo (gynae and breast)
Truncal features if vermis, limb ataxia if hemisphere
Causes of Cerebellar Syndrome
Demyelination (MS) Alcohol cerebellar degeneration Posterior fossa SOL Brainstem lesion Friedrichs ataxia Ataxia telangiectasia Hypothyroidism VitE Deficiency von-Hippel lindau Arnold-chiari malformations Drugs - phenytoin, carbamazepine, lithium, chemo
Drugs causing cerebellar disturbance
Phenytoin
Carbamazepine
Lithium
Chemo agents
Clinical Features of Myotonic Dystrophy
Myopathic facies - lifeless, lean and expressionless
Frontotemporal balding
Ptosis
Cataracts
Wasting of facial muscles, temporals, master, small muscles of hands
Difficulty opening eyes from firm closure
Distal wasting and weakness with impaired fine movement
Foot drop
Depressed deep tendon reflexes
High stepping gait
Other features you would like to look for:
- Diabetes: skin prick, urinalysis, fundoscopy
- Cardiomyopathy: signs of heart failure
- Valvular heart disease: MVP
- Arrythmias: AF
- Conduction defects: do they have pacemaker
- Hypogonadism
- Goitre: nodular thyroid enlargement
May have family hx of respiratory complications following anaesthetic
What is the genetic basis of myotonic dystrophy
Autosomal dominant
CTG repeat expansion in myosin protein kinase gene on chr 19
Expansion and anticipation
Cardiovascular Complications of Myotonic Dystrophy
ECG: prolonged PR, lon QTC, widened QRS Arrhythmia: AF, SVTs, VT Conduction defect: heart block MVP Cardiomyopathy
GI Complications of Myotonic Dystrophy
Diabetes Dysphagia Reflux Hypo motility Bacterial overgrowth Malabsorption Megacolon
Respiratory Complications of Myotonic Dystrophy
Hypoventilation
Respiratory failure following anaesthesia
Pneumonia
Drugs which can help in Myotonia
Phenytoin
Quinine
Procainamide (may worsen cardiac conduction)
Causes of distal wasting and weakness
Myotonic Dystrophy
HMSN
Inclusion body myositis
Common Causes of Sensori-motor neuropathy
Alcohol Diabetes Hypothyroidism Uraemia Sarcoidosis Vasculitis Paraneoplastic GBS Drugs: Cisplatin, amiodarone, allopurinol, vincristine
Causes of Sensory Neuropathy
Alcohol Diabetes Hypothyroidism Uraemia Sarcoidosis Vasculitis B12 deficiency Drugs; isoniazid, metronidazole, flecainide
Small fibre neuropathy
Subtype of peripheral neuropathy where cold, pain and autonomic sensory nerves are involved buy large fibre vibration sense and proprioception are preserved
Main causes of mono neuritis multiplex
Diabetes Polyarteritis nodosa Churn-Strauss Wegners SLE Sjogrens Sarcoidosis Lymphoma Amyloidosis
Investigations for patient with peripheral neuropathy
FBC, ESR, U&E, LFT, Glucose, TFTs, B12, folate, serum protein electrophoresis, autoimmune profile
Urine: glucose and pence-jones
Other: nerve conduction studies, CSF may be indicated, nerve biopsy, genetic testing
Clinical Features of Common Peroneal Nerve Palsy
High stepping gait
Foot drop
Wasting of anterolateral compartment of calf
Weakness of ankle dorsiflexion and eversion
Weakness of dorsiflexion of first toe
Preserved ankle jerk
Loss of sensation over lateral calf and dorsum of foot
Look for scars to suggest traumatic cause
Clinical Features of L5 root lesion
High stepping gait with foot drop
Weakness of hip abduction, dorsiflexion of first toe
Ankle inversion also involved (spared in peroneal nerve)
Loss of sensation to lateral calf, dorsum of foot and lateral thigh
Don’t forget to examine back for scars
What is the course of the common peroneal nerve
Arises as terminal branch of sciatic on posterior aspect of distal thigh
Winds around neck of fibula then splits into superficial and deep
-Superficial supplies peroneus longus and braves and sensation to anterior lower leg and dorsum of foot
-Deep supplies tibialis anterior, extensor hallacus longus and sensation to 1st web of foot
Causes of flaccid foot drop
Muscle - myotonic dystrophy, trauma NMJ - myasthenia gravis LMN - MND, causes of motor neuropathy Cauda equina tumour L5 disc prolaps, neurofibroma Common peroneal nerve palsy - often external compression/trauma Sciatic nerve palsy
Management of Foot Drop
Treat any underlying cause
Physio
Orthotics
Clinical Features of Friedrichs Ataxia
Pes cavus
Kyphoscoliosis
High arched palate
Gait ataxia is common Pc
Cerebellar features: DANISH bilateral
Distal wasting of limbs in pyramidal distribution
loss of proprioception and JPS (degeneration of posterior columns)
Hearing aids/foot orthoses
Other features: Diabetes in 10% Optic atrophy - look at disc Hypertrophic cardiomyopathy in 50% - double jerky apex, systolic murmur Sensorineural deafness
Genetics of Friedrichs Ataxia
Autosomal recessive, chr 9
Trinucleotide GAA expansion of protein frataxin involved in mitochondrial iron regulation. Shows anticipation
Cardiac abnormalities in Friedrichs Ataxia
Arrhythmia
Conduction defects
Hypertrophic cardiomyopathy
Myocardial fibrosis
Multiple Sclerosis Sites
Optic nerve - atrophy and RAPD
Brainstem - internuclear ophthalmoplegia, facial sensor loss and weakness, tremor
Cerebellum - ataxia, dysarthria
Spinal cord (corticospinal) - pyramidal weakness
Spinal cord (dorsal columns) - loss of vibrations and proprioception
Examining the Eyes of Patient with MS
Internuclear ophthalmoplegia - impaired ipsilately adduction, flicking of other eye in abduction
Pale optic disc - atrophy
RAPD - loss of direct pupil response but consensual is intact
Central scotoma on red hat pin field testing
Reduced acuity
May also have cerebellar signs, pseudoathetosis etc
Examining Upper/Lower Limbs in MS
Pyramidal weakness
Hypertonia, hyperreflexia
Dysdiadochokinesia, impaired finger nose testing and intention tremor
Pseudoathetosis when eyes closed
Rebound phenomenon
Impaired vibration and proprioception
Slurred speech, nystagmus etc if you have time
Pathophysiology of MS
Idiopathic Demyelinating Disorder of CNS characterised by demyelinating plaques separated in both space and time. Inflammatory and autoimmune
Different Categories of MS
Relapsing remitting
Secondary progressive
Primary progressive
Progressive relapsing
What is Lhermittes sign?
Neck flexion results in rapid tingling and electric shows down spine into arms and legs. Indicates dorsal column involvement of c-spine.
Seen in - MS, cervical myelopathy, SACDC
What is Internuclear Ophthalmoplegia?
Lesion in medial longitudinal fasciculus
Connects ipsilateral CNIII (medial rectus, adductor) to contralateral CNIV (lateral rectus, abductor)
Results in impaired ipsilateral adduction and nystagmus on abduction of contralateral eye
Causes: MS, brainstem lesions, Wernickes, SLE, miller fisher
Investigations useful in confirming MS
T2 weighted MRI - periventricular white matter lesions
CSF if diagnosis is uncertain - oligoclonal bands - raised intrathecal IgG, lymphocytosis
Oligoclonal bands also seen in neurosarcoidosis, CNS lymphoma, SLE, GBS
Management of MS
General: education, PT/OT, walking aids, visual aids
Acute attacks: IV methyl pred, plasma exchange
Prevention of relapses:
- Beta interferon: reduced relapse in 33% but can cause flu like symptoms/myalgia
- –licences for relapse remitting form after 2 relapses in 2 years
- Glatirimer - competes with autoantibody
- Mitoxantrone
- Natalizumab
Symptomatic treatment
- Spasticity - baclofen
- Depression
- Fatigue - amantadine, SSRIs
- Pain - neuropathic
- Bladder dysfunction - intermittent self cath, anticholinergics
Clinical Features of Cervical Myelopathy
Upper Limbs: fasciculations, absent biceps, brisk triceps jerk, sensory loss in C5-C7 dermatome, wasting in C5-C7 dermatome,
Difficulty opening and closing grip in succession
Pseudoathetosis of fingers
Lower Limbs: spastic paraparesis with dorsal column signs
Ddx of friedrichs, MS, SACDC
Pathophysiology of Cervical Myelopathy
Canal stenosis encroaches on cord leading to lower signs in arms proceeding to upper signs below level
Spondylosis most common but can occur in tumours or following trauma
Cerebellar nystagmus
Horizontal nystagmus
Fast component towards side of lesion
Vestibular nystagmus
Horizontal nystagmus
Fast component away from side of lesion.
Nystagmus suppressed by visual fixation and adapts to continued gaze
CN III Palsy (oculomotor)
Ptosis
Divergent strabismus at rest
Eye fixed in down and out position
Fixed dilated pupil - means parasymp involved usually from extrinsic compression (surgical rather than medical)
CN IV Palsy (trochlear)
Adducted eye can’t look down
Diplopia worse on looking down and away on affected side
CN VI Palsy (
Convergent strabismus and impaired abduction
Diplopia maximal on gaze to that side
Differential for opthalmoplegis which doesn’t fit into specifically III, IV or VI
Myopathy Muscular dystrophy Myasthenia Myositis Trauma
Main structures in cavernous sinus
CNs III, IV, VI, Va and Vb
Sympathetic carotid plexus
Carotid artery
Causes of cavernous sinus syndrome
Thrombosis Aneurysm Fistula Tumour - primary or secondary Trauma Inflammation - Herpes zoster, TB, sarcoid, wegners
Clinical features of cavernous sinus lesion
Unilateral III, IV and VI nerve palsies Sensory loss in Va and Vb Loss of corneal reflex Painful ophthalmoplegia Proptosis Visual loss Papilloedema
Clinical Features of Myasthenia Gravis
Variable ptosis accentuated by sustained upward gaze, improves following eye closure
Furrowing of forehead
Variable strabismus and diplopia
Bilateral facial muscle weakness, jaw weakness
Weak voice with nasal twang
Proximal weakness with fatiguability
Look for evidence of steroid use, thymectomy scar and other autoimmune conditions e.g. DM, RA, SLE, pernicious anaemia
Pathophysiology of myasthenia gravis
Autoimmune disorder characterised by antibodies against nicotinic acetyl choline receptors on post-synaptic membrane of NMJ
Can be generalised or ocular
Drugs which exacerbate myasthenia gravis
Amino glycosides Macrolides Beta blockers Phenytoin Lignocaine
Difference between MG and lambert-eaton
Lambert-Eaton assoc with SCLC, antibodies against pre-synaptic Ca channels, more limb than eye involvement
Causes of False positive nAChR antibodies
First degree relative with myasthenia MND Lambert-eaton Autoimmune hepatitis PBC SLE Penicillamine therapy
Treatment options for Myasthenia Gravis
Acetyl cholinesterase inhibitors - symptomatic benefit not DMARD, can cause N&V, cramps, salivation
Immunosuppressive - steroids then azathioprine, cyclosporin. NB steroids may make weakness worse in first 10 days
Plasma exchange/IVIG
Thymectomy - MG occurs as a result of loss of tolerance to auto antigens. Thymic abnormalities common in these patients and can lead to remission. Always consider if have thymoma or young with thymic hyperplasia
Clinical Features of Pancoast Syndrome
Horners
C8-T1 weakness (hand)
C8-T1 dermatomal weakness
Clubbing and tar staining (lung Ca)
In a patient with wasting of hand(s) always look for
Horners Neurofibromas Tongue fasciculations Clubbing (Horners syndrome) Pes Cavus (HSMN, Friedrichs, old polio) inverted champagne legs Spastic paraparesis (syringomyelia, cervical myelopathy, MND
Innervation and action of hand muscles
All C8-T1 nerve root
Thenar muscles median
Interossei and digiti minimi ulnar
Clinical Features of Syringomyelia
Kyphoscoliosis - median motor nuclei involvement which supplies paraspinal muscles
Surgical scars
LMN signs in upper limbs
UMN signs in lower limbs
Dissociated sensory loss - loss of pain and temp with preservation of JPS and proprioception
What is syringomyelia?
development of fluid filled tubular cavity in central area of spinal cord. Most often develops in cervical or thoracic spinal cord
Causes include:
- CSF blockage from Arnold-Chiari malformation
- Spinal cord injury
- Intramedullary spinal tumour
- Idiopathic
How to explain the clinical signs seen in syringomyelia?
At level of syrinx
- anterior horn cell affected thus damaging LMN
-decussating spinothalamic tracts affected through length of syrinx
Below level - corticospinal tracts affected at level thus UMN signs below level
Causes of Dissociated Sensory Loss
Syringomyelia
Anterior spinal artery occlusion
Small fibre neuropathies
Clinical Features of Ulnar Nerve Palsy
Wasting and weakness of small muscles of hand with sparing of thenar eminence
Extension deformity at MCP
Clawing of ulnar aspect of hand
Weakness of finger ab and adduction, weakness of thumb adduction only
reduced sensation on 5th finger and ulnar aspect of 4th
Most commonly caused by lesion at the elbow
Causes of Ulnar Nerve Palsy
At elbow - fracture, arthritis, fibrous arch compression
At wrist - ganglion, tumour, fracture, aberrant artery, entrapment in guyons canal
Clinical Features of Radial Nerve Palsy
Motor: wrist drop, weak extensors of wrist and MCPs, weak elbow flexion
Triceps intact
Sensory loss over first dorsal interosseous space
If lesion higher at humerus then also forearm sensory loss
If no sensory loss then likely pure motor branch
Course of Radial Nerve
Posterior branch of brachial plexus
Wraps around humerus in spiral grove then divides into sensory and motor
Causes of Radial Nerve Palsy
Axilla - trauma, compression
Spiral groove - trauma, saturday night palsy
Proximal forearm - trauma, sublux of radius, elbow synovitis, ganglion, tumour
wrist - trauma, compression
Clinical Features of Median Nerve Palsy
Wasting of thenar eminence
Weakness of thumb
Sensory loss over palmar aspect of first 3 fingers
If spared over thenar eminence likely carpel tunnel (if not spared then lesion higher as palmar cutaneous branch involved)
Tinels
Phalens
Consider underlying cause: acromegaly, RA, trauma, hypothyroidism, amyloidosis, gout, DM, pagets
Relative Afferent Pupillary Defect - Optic Atropy
Can have normal direct and consensual reflexes when tested separately
During swinging torch test, one appears dilated and the other constricted because the direct reflex of affected eye is weaker
Causes: optic neuritis/optic atrophy causes, retinal causes including central retinal artery/vein occlusion, severe ischaemic diabetic retinopathy
Argyll Robertson pupils
Both pupils small and irregular accommodate but don’t react to light
Causes: neurosyphilis, diabetes, midbrain tumour/lesion, wernickes
Myotonic Pupil
Dilated pupil which reacts slowly
Benign condition seen in middle aged females
when accompanied by arreflexia known as Holmes-Adie syndrome
Causes of Miosis
Argyll Robertson pupil Horners Opiates Organophosphate poisoning infancy/advanced age
Clinical features of Horners Syndrome
Miosis
Partial ptosis (some innervation from III) which can be overcome with voluntary gaze
Normal eye movements
Ipsilateral anhidrosis if lesion central or pre-ganglionic
Look at neck: scars, masses, aneurysms
Hands: wasting, clubbing, nicotine staining, sensory loss etc to show pancoast tumour
Chest: apical lung signs, sternotomy scars, cervical rib
Causes of unilateral ptosis
III nerve palsy
Horners
MG
Congenital
Causes of bilateral ptosis
MG Myotonic dystrophy Bilateral horners - syringomyelia Nuclear III nerve palsy Congenital
Causes of Horners
Central (1st order neurone) - demyelination, brainstem tumour, basal meningitis
Peripheral (2nd order) - pan coast tumour, cervical rib, neurofibromatosis, LN, cardiothoracic surgery
Peripheral (3rd order) - internal carotid dissection, herpes zoster
Clinical Features of Cerebellopontine angle lesion
VI nerve palsy - unable to abduct eye LMN weakness of face Sensory loss in CN V Wasting of jaw muscles (V) Sensorineural hearing loss (unilateral) May be involvement of IX-XII: hypophonia, neck muscle weakness, tongue deviation
Causes of Cerebellopontine angle lesion
Acoustic neuroma Meningioma Cholesteatoma Haemangioblastoma Granuloma Metastases
Clinical Features of Hemiparesis
Flexural posturing Dystonic Pronator drift Hypertonia Hypereflexia Reduced sensation Circumducting gait May be expressive dysphasia Extensor plantars
Would also like to assess:
complete neuro exam, speech, visual fields, measure BP, assess pulse (AF)
Common causes of hemiplegia
CVA - ischaemic or haemorrhage Tumour Demyelination Abscess Post-Octal (Todds) Functional
Why should pain/temp and JPS/vibration be tested?
If there is dissociation between two it suggests c-spine lesion not cerebral (Brown-Sequard)
Clinical Features of Chorea
Brief, irregular, non repetitive movements with flow and dancing quality
Accentuated by activity
Motor impersistence - unable to sustain posture, tongue protrusion or eyelid closure
Milkmaids grip
Look for features of underlying cause:
- Huntingtons: mental status/dementia
- Wilsons: K-F rings, stigmata of CLD
- SLE: rash, purpura
- Drugs
Causes of Chorea
Inherited
- Huntingtons
- Wilsons
- Benign familial chorea
- Spinocerebellar ataxia
Acquired
- Sydenhams chorea
- SLE
- Thyrotoxicosis
- Pregnancy
- OCP
- CVA
Tardive dyskinesia
Long term dopamine antagonists leads to up regulation and supersensitive to dopamine leading to exaggerated response
Drugs implicated include phenothiazines, metoclopramide
Features of Bulbar Palsy (flaccid dysarthria)
Speech nasal quality and lacks modulation
Weak voice, low volume
Slurring of consonants
Bilateral palatal weakness
Flaccid paralysis of tongue with fasciculations
Absent jaw jerk
Features of pseuobulbar palsy (spastic dysarthria)
High pitch slow speech which lacks modulation Harsh vocal quality Strained voice Bilateral palatal weakness Small, immobile, spastic tongue Brisk jaw jerk Emotional lability
What are causes of bulbar palsy
Higher Cranial nerve lesion
True bulbar palsy is LMN -MND -Brainstem ischaemia Brainstem tumour -Poliomyelitis -GBS
Pseudo bulbar is UMN
- MND
- MS
- Brainstem tumour
Clinical Features of Old Poliomyelitis
Hypoplastic limb with distal wasting, weakness and hypotonia Hyporeflexia Absent plantar responses Normal sensation Pes Casus
LMN but may have contractures from immobility
look for walking aids, orthoses
No sensory involvement, otherwise consider HSMN
Poliovirus
Enterovirus
Single strand RNA virus surrounded by protein capsid
3 different strains
Pathophysiology of poliomyelitis
Faecal oral transmission or ingestion of contaminated water
1-3 week incubation period
only 5% get nervous system involvement
5 clinical syndromes:
- Abortive poliomyeletis - mild pharyngitis
- Non-paralytic poliomyelitis - features of meningism
- Paralytic - flaccid limb paresis followed by atrophy, may be partial/complete recovery
- Paralytic with bulbar involvement
- Encephalitis - very rare, very high mortality
Differential for Acute Limb Paralysis
Virus: polio, enterovirus 71, tick paralysis
Bacteria: botulism, diphtheria, lyme
Neuropathy: GBS, acute intermittent porphyria
Spinal disease: acute transverse myelitis, spinal cord compression
Clinical Features of Facial Nerve Palsy
Facial weakness with no forehead sparing No ophthalmoplegia Normal sensation Check no parotid enlargement (cause of peripheral palsy Check for hearing defect
Causes of Bells LMN palsy
Idiopathic Structural: -brainstem demyelination/tumour -cerebellopontine angle acoustic neuroma -middle ear infection -parotid infection/tumour Mononeuritis multiplex
Investigations for Bells Palsy
Bloods: glucose, CRP, ESR, ACE, lyme serology etc if atypical presentation
Nerve conduction studies if concerned about GBS
LP if multiple cranial nerves etc
Treatment of Bells Palsy
High dose oral red for 5 days
Oral acyclovir sometimes given in first week if suggestion of ramsay-hunt
Corneal protection - check eye before steroids then lubrication/tape eye shut at night
Complications of Bells Palsy
Persistence
Corneal abrasion
Pain in distribution of nerve
Hemifacial spasm
Clinical Features of DMD
Young patient Wheelchair bound Generalised wasting and weakness predominantly affecting neck and proximal muscles Contractures on lower limbs Reduces reflexes Pseudo hypertrophy of calves Kyphoscoliosis Inability to generate forceful cough
Genetics of DMD and Beckers Muscular Dystrophy
Both X linked recessive mutation in dystrophin gene
Riluzole
used to treat ALS
Delays ventilator dependence & increase survival by 2-3 months