Clerking breathlessness (dyspnoea)

History taking

Particular attention has to be paid to the clinical history when clerking breathlesness (dyspnoea). Systematically, the general format of history taking should be applied as follows:

Greet the patient and establish rapport.

Obtain the patient’s biodata.

A proper characterisation of the breathlessness is done in the body of the history, with attention to the following:

  • Time course: Acute (develops over minutes); Subacute (develops over hours to days); Chronic (develops over weeks to months).
  • Severity
  • Associated symptoms, such as fever, cough, chest pain, palpitations (a review of the primary system(s) will find a number of possibly associated symptoms).
  • Positionality: orthopnoea, platypnoea, trepopnoea, paroxysmal nocturnal dyspnoea.
  • Pattern of dyspnoea; as regards relation to working days and weeks or exposure to certain substances, and seasonal variations.

More specific direct questions may then be asked as follows based on the possible list of differentials generated after having characterised the dyspnoea:

  • COPD: 

COPD presents with progressive dyspnoea over a period of years with slowly worsening exercise tolerance; daily productive cough, typically worse in the morning and after exercise, is common; current or prior hx of smoking is typical; exacerbation presents with fever, increased sputum production, and change in sputum character; severe degree of impairment in young patient or patient with minimal or no smoking hx suggests alpha-1 protease deficiency

  • Congestive heart failure:

orthopnoea, paroxysmal nocturnal dyspnoea, exertional dyspnoea, chest pain, ankle swelling; rapidly progressive failure; dyspnoea dominates the clinical picture

  • Asthma:

episodic wheezing, cough, and dyspnoea following exposure to aeroallergen, cool air, or exercise; possible hx of other atopic diseases; onset of symptoms normally in childhood

  • Pneumonia:

sudden or sub-acute onset of fever, chills, cough, chest pain, and dyspnoea; cough typically produces purulent sputum, but may be dry in some viral pneumonias and early bacterial pneumonia; onset is more insidious in fungal and tuberculous infections

  • Acute coronary syndrome and angina:

acute coronary syndrome (ACS) typically presents with central chest pain radiating to shoulders and neck; may cause dyspnoea alone in atypical presentations (especially in women and diabetic patients); angina presents with exertional chest pressure, typically occurring at similar levels of exercise, but may also occur at rest or at night

  • Interstitial lung disease:

typically presents with slowly progressive dyspnoea and a chronic, dry cough

  • Bronchiectasis:

presents with chronic cough, chronic daily purulent sputum production, and dyspnoea; possible hx of prior pulmonary infections or viral pneumonias in childhood

  • Non-infective pneumonitis (eosinophilic, radiation, aspiration, hypersensitivity pneumonitis):

presents with fever, chills, cough (dry or productive), and dyspnoea; myalgias, pleuritic chest pain, and night sweats may be present; hx of radiation to chest 1 to 6 months before presentation in radiation pneumonitis; episodes of clouded consciousness, choking, and aspiration in aspiration pneumonitis; exposure to organic antigens (e.g., bath tub, birds, hay) in hypersensitivity pneumonitis

  • Bronchitis:

upper respiratory tract symptoms; cough; prolonged coughing and dyspnoea (especially on exposure to cold air, exercise, or irritants) may occur

  • Pulmonary embolism (thrombotic, air, amniotic fluid, tumour):

presents with sudden-onset dyspnoea and chest pain; possible hx of previous venothromboembolic disease, inadequate anticoagulation, immobilisation, admission to hospital, travel, vascular access, leg injury, malignancy, or childbirth

  • Pleural effusion and pleural tumours:

symptoms depend on rate of fluid accumulation and fluid volume; pleuritic chest pain, a dull ache, and dyspnoea may be present

  • Anaemia: 

symptoms depend on severity and acuity of anaemia; presentation ranges from insidious onset of exertional dyspnoea to severe dyspnoea at rest; associated symptoms related to impaired oxygen delivery to tissues (confusion, lethargy, syncope, coma) and compensatory mechanisms (palpitations, bounding pulses) occur

  • Gastro-oesophageal reflux disease:

presents with heartburn, overt regurgitation of gastric contents into the throat, and dysphagia; nausea, odynophagia, and chest pain may be present; symptoms are typically post-prandial, occur in supine position, and may be associated with certain foods

  • Ascites:

presents with insidious-onset weight gain and increased abdominal girth; possible hx of liver disease (e.g., viral hepatitis, liver cirrhosis) or alcohol abuse

  • Shock:

possible hx of sepsis, anaphylaxis, cardiac pump failure, toxin exposure, or hypovolaemia leading to inadequate tissue perfusion and end-organ dysfunction; may present with hx of urinary, respiratory, or intra-abdominal sepsis, exposure to medications and insect bites, cardiac chest pain, or haemorrhage (e.g., haematemesis, melaena)

  • Thyroid disease:

thyrotoxicosis presents with dyspnoea, decreased exercise tolerance, sweating, heat intolerance, fatigue, diarrhoea, urinary frequency, and weight loss; hypothyroidism and associated slowing of metabolism manifests with cold intolerance, constipation, and weight gain; women with hypothyroidism may experience oligomenorrhoea or amenorrhoea; snoring may appear or worsen with the development of hypothyroidism

  • Anxiety and panic attacks:

most commonly young to middle-aged women, but may affect both sexes at any age; possible prior hx of anxiety, phobias, and panic; dyspnoea may be accompanied by a choking sensation, discomfort in various locations, dizziness, and a sense of fear

  • Normal ageing, deconditioning, and obesity:

dyspnoea is typically of insidious onset and exertional, and may be associated with undertaking an unusual degree of physical exercise

  • Pulmonary tumours:

may present with cough; haemoptysis (usually low volume) may be present in proximal airway tumours; chest pain, dyspnoea, hoarseness, and pleuritic pain less common; asymptomatic disease may be incidentally detected by presence of a lung nodule on CXR; confusion, focal neurological defects, and bone pain may reflect extrathoracic spread

  • Sarcoidosis: 

frequently diagnosed in asymptomatic stage based on CXR abnormalities; cough, dyspnoea, and chest pain are the most common symptoms; fever, myalgias, subcutaneous nodules, and erythema nodosum may be present

  • Pulmonary contusion:

history of blunt or penetrating trauma, with shortness of breath resulting from lung damage

  • Laryngitis:

upper respiratory tract symptoms; hoarseness; dyspnoea; history of excessive vocal use, e.g., singers

  • Epiglottitis: 

sore throat, fever, odynophagia, dysphonia, drooling, hoarseness and stridor

  • Angio-oedema:

rapid development of skin or mucosal surface swelling; lips, mouth, larynx, and bowel most commonly involved; possible hx of atopic diseases or ACE inhibitor use; dyspnoea may be present if larynx is involved

  • Foreign body aspiration:

possible hx of epilepsy, syncope, altered mental status (e.g., intoxication, hypoglycaemia), or choking and coughing after ingestion of food (particularly nuts); hx of choking not always present; recurrent pneumonia raises suspicion of foreign body aspiration

  • Tracheobronchial tumours (benign or malignant):

present with dyspnoea (constant or positional); cough (usually dry) and haemoptysis may be present; airway obstruction may lead to pneumonia, which markedly exacerbates symptoms

  • Retrosternal goitre:

dyspnoea and wheezing are the most common presenting symptoms; cough may be present; symptoms may be positional; chest pain, hoarseness, and Horner’s syndrome are less common; enlargement of ectopic thyroid tissue is accompanied by enlargement of orthotopic thyroid, and there may be hx of orthotopic thyroid removal

  • Vocal cord dysfunction:

presents with exertional dyspnoea that may be associated with wheezing and stridor; symptoms may appear only in certain positions and are typically associated with a degree of anxiety

  • Pulmonary hypertension:

presents with dyspnoea of insidious onset resulting in limitation of exercise capacity; exertional chest pain, exertional syncope, and symptoms of right-sided heart failure may develop

  • Hepatopulmonary syndrome:

typical presentation includes dyspnoea; platypnoea may be present; hx of chronic liver disease

  • Pulmonary arteriovenous malformations:

most commonly a manifestation of autosomal dominant hereditary haemorrhagic telangiectasia (HHT), but may be isolated; symptoms include epistaxis, haemoptysis, dyspnoea, and GI bleeding; large malformations associated with platypnoea

  • Pulmonary veno-occlusive disease:

slowly progressive dyspnoea that may be accompanied by chronic cough, chest pain, abdominal pain, or syncope

  • Mesothelioma:

asbestos exposure, often employment-related, with a latency period of 20 to 40 years; shortness of breath, dry non-productive cough, chest pain; non-specific symptoms (such as fatigue, fever, sweats, and weight loss) also common

  • Pneumothorax and pneumomediastinum: 

sudden-onset dyspnoea and unilateral chest pain; patient may be tall and asthenic; possible hx of crack cocaine use, HIV, or lymphangioleiomyomatosis

  • Pleuritis:

typically presents with unilateral chest pain significantly exacerbated by deep breathing

  • Haemothorax:

history of blunt or penetrating trauma to the chest

  • Arrhythmias:

present with sudden-onset weakness, light-headedness, syncope, palpitations; possible hx of coronary artery disease or previous arrhythmia

  • Acquired valvular heart disease:

dyspnoea on exertion, episodic chest pain, symptoms of congestive heart failure (weight gain, orthopnoea, paroxysmal nocturnal dyspnoea, ankle swelling); possible hx of rheumatic fever; acute valvular dysfunction may follow a coronary event

  • Congenital heart disease:

many cyanotic congenital heart diseases are detected in the newborn period; may manifest later in life; present with dyspnoea and impaired exercise tolerance; chest pain, hypertension, and exertional syncope may be present; infrequently present with consequences of intracardiac shunt (e.g., brain abscesses)

  • Cardiac drugs:

chronotropic deficiency manifests as dyspnoea, presyncope, and syncope

  • Myocardial disease (cardiomyopathy, myocarditis):

initial symptoms of fatigue and decreased exercise tolerance; symptoms of heart failure (ankle swelling, increased abdominal girth, orthopnoea, paroxysmal nocturnal dyspnoea, chest pain) may be present; myocarditis frequently follows a viral infection; cardiomyopathy may be incidentally detected on CXR

  • Pericardial disease: 

presents with dyspnoea and chest pain; dyspnoea is typically ameliorated by assuming a sitting position and bending forwards; ankle swelling and increased abdominal girth may be the presenting symptoms; patients with constrictive pericarditis may have hx of chest surgery or chest radiation

  • Aortic dissection:

typically presents with sudden, severe chest pain that may radiate to the back

  • Superior vena cava syndrome:

presents with insidious-onset dyspnoea, facial oedema, and head fullness

  • Methaemoglobinaemia and carbon monoxide poisoning: 

methaemoglobinaemia presents with easy fatigability and headaches; symptoms may progress to obtundation, respiratory depression, and death in severe cases; symptoms may appear after exposure to specific drugs, either by ingestion (dapsone) or mucosal exposure (lidocaine, benzocaine); carbon monoxide poisoning may mimic a viral syndrome (headache, malaise, dizziness, nausea)

  • Thrombotic thrombocytopenic purpura:

typically presents with a viral prodrome (fever, arthralgias, myalgias) followed by a petechial rash, neurological symptoms (headache, confusion), and abdominal pain

  • Tetanus:

hx of exposure to Clostridium tetani spores through injury, foreign body retention, or in neonatal period; presentation ranges from localised muscle spasms of a limb to tonic, painful skeletal muscle contractions in severe cases; prodrome of restlessness, sweating, and tachycardia may be present; tetanic spasms may affect any muscle group and be triggered by non-specific stimuli (e.g., light, noise)

  • Botulism:

acute onset of bilateral bulbar neuropathy with symmetrical descending weakness; possible hx of ingestion of contaminated, non-pasteurised food (food-borne botulism) 12 hours to 7 days before symptom onset, or wound contamination with Clostridium botulinum; nausea, vomiting, abdominal cramps, and diarrhoea may accompany blurred vision, diplopia, and facial paralysis; death may result from respiratory muscle paralysis

  • Phrenic nerve paralysis:

recent surgical procedure, involving neck or chest, recent chest or neck trauma; in idiopathic cases, no such history can be elicite

  • Amyotrophic lateral sclerosis:

presents with asymmetrical weakness of the distal muscles, inability to perform fine motor hand movements, or foot drop; possible difficulty in initiating movements and maintaining erect posture; personality changes may be noted by family members; symptoms may produce sensation of dyspnoea

  • Polio and other acute viral anterior horn infections:

polio presents with asymmetrical weakness (typically affects lower more than upper extremities and proximal more than distal muscles) and diminished deep tendon reflexes; neurological symptoms may be preceded by a viral prodrome of fever, nausea, malaise, and sore throat; muscle weakness quickly progresses and may lead to quadriplegia and respiratory failure; other infections of anterior horn cells (e.g., enteroviruses, West Nile virus) produce similar symptoms

  • Guillain-Barre syndrome:

presents with progressive symmetrical paralysis; muscle weakness typically starts in thigh muscles, but may involve any muscle group (e.g., arms, bulbar, ocular); patients may experience sensory phenomena (especially paraesthesias in hands and feet); urinary retention and ileus may be present

  • Myasthenia gravis:

typically presents with muscular weakness of ocular or bulbar muscles; ptosis, diplopia, dysarthria, and dysphagia are common; muscle fatigability involving facial or limb muscles is less common

  • Respiratory muscle deficiency:

onset of dyspnoea may be insidious (idiopathic diaphragmatic paralysis), or related to a known insult (e.g., trauma, surgery); dyspnoea typically worse in supine than upright position (orthopnoea) in diaphragmatic paralysis

  • Paraneoplastic myasthenic syndrome:

presents with weakness in pelvic girdle and ascending pattern of motor disease progression; may present with difficulty in getting up from a chair, easy fatigability, and muscle cramps; weakness improves transiently after brief exercise (post-exercise facilitation); autonomic dysfunction (erectile dysfunction, mouth dryness) may be present; weakness of upper girdle muscles and involvement of ocular and bulbar muscles is less common

  • Anaphylaxis: 

hx of exposure of predisposed host to a medication, food product, or insect bite; presents with sudden dyspnoea and wheezing accompanied by a choking sensation, voice changes, tongue swelling, rash, and itching; nausea, vomiting, and diarrhoea may be present

  • Cushing’s syndrome:

progressive weight gain and exertional dyspnoea; careful hx localises decreased exercise tolerance to muscle weakness; women may present with oligomenorrhoea or amenorrhoea

  • Phaeochromocytoma:

typically presents with episodic sweating, headache, and tachycardia; possible associated episodic dyspnoea and feelings of panic

  • Kyphoscoliosis and pectus excavatum:

pectus excavatum develops in early childhood and may cause exertional dyspnoea; kyphoscoliosis develops in childhood or adolescence and is most commonly idiopathic or may be caused by neuromuscular disease, vertebral body destruction, or connective tissue disorders

  • Diphtheria:

upper respiratory tract symptoms; dysphagia, dysphonia, dyspnoea, and a croupy cough can develop; immunisation and travel history are important

Past medical history should probe for associations with obesity, normal pregnancy, recent history of obstetric labour, recent surgery, a history of previous venothromboembolic disease, inadequate anticoagulation, immobilisation, admission to hospital, long-distance travel, vascular access, or leg injury. Also ask for a known autoimmune or rheumatological disease, malignancy with possible secondary airway obstruction, recurrent pneumonia, or a retained foreign body. A history of thoracic radiation for malignancy, prior endotracheal intubation and prolonged mechanical ventilation should also be sought for.

Social history may find long-term smoking to be a key factor in the condition. 

Drug history may reveal medications which are contributory to the dyspnoea, example nucleoside reverse-transcriptase inhibitors, topiramate, digoxin, calcium-channel blockers, beta-blockers.

Physical exam

The physical exam further strengthens the clinician’s impression after a proper history taking. The following signs may be elicited, and are by and large, only suggestive of the conditions tagged to them.

General exam

  • Mental status change: congestive heart failure, pulmonary oedema, asthma, COPD, pneumonia, sepsis, or CNS infections.
  • Frequent sighing: hyperventilation and anxiety states.
  • Cyanosis: exacerbated COPD, pulmonary embolism, acute airway obstruction, acute drug toxicity, congenital cyanotic valvular disease, mechanical valve malfunction, cardiac tamponade, pulmonary arteriovenous malformations, aspiration, or methaemoglobinaemia.
  • Jaundice: liver failure or leptospirosis.
  • Facial oedema: superior vena cava syndrome or anaphylaxis.
  • Goitre: retrosternal goitre or the sign of Graves’ disease with thyrotoxicosis.
  • Laryngeal height of 4 cm or more: COPD.
  • Kyphoscoliosis: restriction of chest movement and subsequent dyspnoea.
  • Clubbing: lung cancer, interstitial lung disease, portopulmonary hypertension, or pulmonary arteriovenous fistulas.
  • Increased abdominal girth: congestive heart failure, hepatic cirrhosis with ascites and pleural effusions, or constrictive pericarditis.
  • Urticarial rash: systemic anaphylaxis.
  • Purpura: thrombotic thrombocytopenic purpura, meningococcaemia, or vasculitis.

Cardiovascular exam

  • Neck vein engorgement: congestive heart failure, COPD, pneumothorax, or cardiac tamponade.
  • Raised JVP, extra heart sound (S3 gallop rhythm), and fluid retention: congestive heart failure.
  • An irregular or fast heart beat: a tachyarrhythmia or atrial fibrillation.
  • A loud S2: pulmonary hypertension and cor pulmonale.
  • A systolic heart murmur: acute valvular insufficiency, mechanical valve malfunction, or congenital or rheumatic valvular disease.
  • Lower extremity oedema: congestive heart failure with pulmonary oedema, volume overload, pulmonary thromboembolism, myocardial infarction, arrhythmias, constrictive pericarditis, pulmonary hypertension, inferior vena cava thrombosis, hypothyroidism, or cardiac tumours.

Respiratory exam

  • Pursed lip: COPD.
  • Stridor: foreign body, infectious or inflammatory oedema (e.g., diphtheria, tetanus, epiglottitis, angio-oedema), dysfunction of the upper airway structures (vocal cord dysfunction, tetany), tumours of the airway wall (base of the tongue, larynx, oesophagus, trachea, and airway papillomatosis), or airway limitation by its extrinsic compression (subglottic stenosis, retrosternal goitre, thyroid cancer, lymphoma).
  • Associated fever and difficulty in swallowing: epiglottitis.
  • A barrel chest (increased anteroposterior diameter): emphysema and cystic fibrosis.
  • Contralateral tracheal deviation: tension pneumothorax or a large pleural effusion.
  • Unilateral dullness to percussion: pleural effusion, atelectasis, foreign body aspiration, pleural tumours, or pneumonia.
  • Hyper-resonance: pneumothorax or severe emphysema.
  • Subcutaneous emphysema: pneumomediastinum.
  • Unilateral decreased or absent breath sounds: pleural effusion, atelectasis, foreign body aspiration, or pneumothorax.  is suggested by a
  • Loud P2: pulmonary hypertensionon.
  • Distant breath sounds: pleural effusion.
  • Pulmonary rales: pulmonary congestion (fine, bibasal) or oedema, acute or chronic pneumonia, or some interstitial lung diseases, including sarcoidosis, hypersensitivity pneumonitis, or idiopathic pneumonitides.
  • Velcro crackles: interstitial lung disease.
  • A prolonged expiratory phase: asthma, COPD, cystic fibrosis, bronchiectasis, or bronchiolitis.

Neurological exam

  • Cranial nerve palsies: botulism.
  • Ptosis: myasthenia gravis, myotonic dystrophy, or botulism.

Below are other examination findings more peculiar to each of the differential diagnoses above:

  • COPD: 

facial plethora, cyanosis, laryngeal height of 4 cm or more, hyper-expanded chest, prolonged exhalation, rhonchi, and wheeze; clubbing may be present; resting or exercise hypoxaemia may be present in severe cases

  • Congestive heart failure:

distended neck veins, fine bibasal rales, S3 gallop rhythm, peripheral oedema

  • Asthma:

prolonged expiratory phase, wheeze, and rhonchi; pursed-lip breathing, cyanosis, poor air movement, and use of accessory muscles may be present in severe asthma attack

  • Pneumonia:

fever, tachycardia, tachypnoea, crackles, decreased breath sounds, and decreased fremitus; less frequently jaundice may be present; hypoxaemia, cyanosis, and respiratory failure may be present in severe cases

  • Acute coronary syndrome and angina:

patient may be clammy and hypotensive; S3 or S4 gallop rhythm and pulmonary rales may be present; examination may be normal in stable angina

  • Interstitial lung disease:

dry crackles; hypoxaemia, cyanosis, and clubbing may be present

  • Bronchiectasis:

prolonged expiratory phase, crackles, rhonchi, and wheeze; clubbing, cyanosis, and hypoxaemia may be present

  • Non-infective pneumonitis (eosinophilic, radiation, aspiration, hypersensitivity pneumonitis):

crackles; wheeze and rhonchi less common; hypoxaemia and respiratory failure may be present in severe cases

  • Bronchitis:

fever, cough, inability to take deep breaths (‘cough readiness’); lung examination may be normal or reveal rhonchi and wheeze

  • Pulmonary embolism (thrombotic, air, amniotic fluid, tumour):

tachycardia, tachypnoea, hypotension, hypoxaemia, and neck vein engorgement

  • Pleural effusion and pleural tumours:

asymmetrical chest movement, ‘stony’ dullness to percussion, decreased fremitus, and absent breath sounds are typical in pleural effusion; examination may be normal in pleural tumours

  • Anaemia: 

characterised by nail-bed and conjunctival pallor; jaundice and hepatosplenomegaly may be present in haemolytic anaemia

  • Gastro-oesophageal reflux disease:

typically normal

  • Ascites:

stigmata of chronic liver disease (e.g., spider naevi, palmar erythema) and jaundice are usually present; abdominal examination reveals abdominal distension and distended abdominal wall superficial veins

  • Shock:

hypotension, tachycardia, tachypnoea, and decreased oxygen saturation are common; brain underperfusion causes varying degrees of decreased mental status; pallor or hyperaemia may accompany shock; distributive shock results in warm and flushed extremities; cardiogenic shock leads to cold and clammy extremities; diffuse rash may accompany bacterial toxin production; rhonchi, wheeze, and crackles may be present; abdominal tenderness may reflect an intra-abdominal infectious process or gut ischaemia

  • Thyroid disease:

signs of thyrotoxicosis include tachycardia (e.g., atrial fibrillation), tachypnoea, widened pulse pressure, warm and sweaty skin, exophthalmos, lid lag, and neck goitre; anxiety, restlessness, and agitation may also be present; signs of hypothyroidism include dry skin, generalised oedema, hypertension, and mental slowing

  • Anxiety and panic attacks:

tachycardia, tachypnoea, and sweating may be present; patient may hyperventilate and sigh frequently; Chvostek’s and Trousseau’s signs may be present

  • Normal ageing, deconditioning, and obesity:

typically normal

  • Pulmonary tumours:

examination may be normal or may reveal unilateral wheeze and decreased breath sounds in large airway lesions; crackles and rhonchi may be present in post-obstructive pneumonia; dullness to percussion and decreased fremitus may indicate malignant pleural effusion

  • Sarcoidosis: 

examination may be normal or may reveal wheeze and dry crackles

  • Pulmonary contusion:

signs of pulmonary oedema

  • Laryngitis:

may demonstrate hyperaemia of oropharynx; enlarged tonsils with or without exudate

  • Epiglottitis: 

anterior oral examination may be normal; tenderness over anterior and lateral neck and hyoid bone, swelling on laryngoscopy

  • Angio-oedema:

asymmetrical, prominent swelling of the involved part; urticaria may be present; respiratory compromise may be present if larynx is involved

  • Foreign body aspiration:

cyanosis, stridor, unilateral wheeze

  • Tracheobronchial tumours (benign or malignant):

wheeze and stridor may be present; hypoxaemia is a late finding

  • Retrosternal goitre:

goitre is typically present; stridor, dyspnoea, and wheeze may be present (especially with forced respiration); Pemberton manoeuvre (passive elevation of arms above head for 1 minute) may reveal symptoms by forcing thyroid tissue into the thoracic inlet

  • Vocal cord dysfunction:

examination may be normal; forced exhalation or series of deep breaths may induce wheezing/stridorous sound

  • Pulmonary hypertension:

increased intensity of pulmonary component of S2 may be the only sign; distended neck veins, hepatomegaly, and peripheral oedema may be present in severe cases

  • Hepatopulmonary syndrome:

hypoxaemia with platypnoea-orthodeoxia (i.e., dyspnoea and hypoxia in upright position that improves in recumbent position) is typical; stigmata of chronic liver disease (e.g., spider naevi), jaundice, and ascites may be present

  • Pulmonary arteriovenous malformations:

small, red, elevated vascular malformations of the skin and mucous membranes are typical of HHT; hypoxaemia may be present; examination may be normal in isolated, non-HHT-related malformations

  • Pulmonary veno-occlusive disease:

cyanosis, clubbing, loud P2, right ventricular heave, liver congestion, peripheral oedema

  • Mesothelioma:

decreased breath sounds and dullness to percussion on the affected side as a result of pleural effusion or bronchial

  • Pneumothorax and pneumomediastinum: 

unilaterally absent breath sounds and tympany on percussion of ipsilateral chest in pneumothorax; tracheal shift away from side of lesion in tension pneumothorax; subcutaneous emphysema in pneumomediastinum

  • Pleuritis:

splinting of the chest (i.e., preferential movement of unaffected side) may be present; dullness to percussion and decreased breath sounds may be present on the affected side in the presence of a pleural effusion

  • Haemothorax:

signs of volume depletion, circulatory collapse, and shock

  • Arrhythmias:

tachycardia or bradycardia; signs of inadequate cardiac output (pallor, diaphoresis, decreased mental status); peripheral oedema and pulmonary rales may be present

  • Acquired valvular heart disease:

murmur reflecting turbulence due to flow through a narrowed valve or regurgitation of blood; jugular venous distension, heart rhythm disturbances (especially atrial fibrillation), peripheral oedema, and hepatomegaly may be present

  • Congenital heart disease:

patent ductus arteriosus is characterised by wide pulse pressure, palpable, dynamic left apical impulse with a continuous machinery-like murmur; aortic coarctation is characterised by absent lower extremity pulses with hypertension in the upper extremities; tetralogy of Fallot is characterised by systolic murmur, absent P2, and cyanosis; cyanosis may be present in Eisenmenger’s syndrome

  • Cardiac drugs:

resting bradycardia

  • Myocardial disease (cardiomyopathy, myocarditis):

tachycardia, S3 or S4 gallop rhythm, systolic murmur of mitral or tricuspid regurgitation, neck vein distension, peripheral oedema, ascites, and hepatomegaly may be present

  • Pericardial disease: 

tachycardia, distended neck veins, pulsus paradoxus (>10 mmHg decrease in systolic blood pressure with inspiration), peripheral oedema, ascites, pulsatile hepatomegaly, and pleural effusion may be present

  • Aortic dissection:

examination may be normal or may reveal pallor, tachycardia, tachypnoea, hypotension with increased pulse pressure, and diminished peripheral pulses (especially lower extremities); diastolic precordial murmur suggesting aortic regurgitation may be heard over the precordium

  • Superior vena cava syndrome:

facial plethora, distension of neck and head veins

  • Methaemoglobinaemia and carbon monoxide poisoning: 

cyanosis, dyspnoea, and neurological changes may be present in methaemoglobinaemia; arrhythmias and mental status changes ranging from mild confusion to seizures and coma are common in carbon monoxide poisoning; cherry-red appearance of skin may be noted in carbon monoxide poisoning

  • Thrombotic thrombocytopenic purpura:

exam may be normal or may reveal pyrexia, petechial and purpuric rash, jaundice, hypertension, seizures, mental status changes, and splenomegaly

  • Tetanus:

contraction of facial muscles results in lockjaw (trismus) or a sardonic smile (risus sardonicus); contraction of back muscles leads to opisthotonus; abdominal muscle contraction raises suspicion of a surgical abdomen

  • Botulism:

any cranial nerve may be involved, resulting in blurred vision, ophthalmoplegia, diplopia, dysarthria, nystagmus, ptosis, and facial weakness

  • Phrenic nerve paralysis:

dullness to percussion at lung base, no respiratory variability of the lower lung border

  • Amyotrophic lateral sclerosis:

signs attributable to upper and lower motor neuron disease (weakness, hyper-reflexia, spasticity, muscle atrophy, fasciculations) and bulbar involvement (dysphagia, dysarthria) may be present; drooling and sialorrhoea may be present; patients may display inappropriate affect with laughing, crying, and impaired judgement

  • Polio and other acute viral anterior horn infections:

asymmetrical muscle paresis or paralysis; sensory examination is typically normal; deep tendon reflexes are diminished

  • Guillain-Barre syndrome:

symmetrical muscle weakness is a hallmark sign; dysautonomia (tachycardia or bradycardia, labile blood pressure, orthostatic hypotension) may be present; deep tendon reflexes are characteristically absent or diminished

  • Myasthenia gravis:

examination is variable; weakness of extra-ocular muscles (not restricted to specific cranial nerve), lack of facial expression, or peripheral muscle weakness and fatigability (typically affects arms more than legs) may be present; speech may be weak or indistinct

  • Respiratory muscle deficiency:

detecting paradoxical diaphragm movement may be difficult; abdominal wall muscle weakness is easily detected by paradoxical, inward movement of abdominal wall during inspiration; weakness of non-respiratory muscles may be evident in paraparesis

  • Paraneoplastic myasthenic syndrome:

predominantly lower-extremity weakness with absent reflexes; proximal muscles most commonly affected; symmetrical distribution of muscle involvement; no oculobulbar involvement

  • Anaphylaxis: 

prolonged expiratory phase, wheeze, tachycardia, hypotension, facial and tongue oedema, and cutaneous manifestations (urticaria, angio-oedema)

  • Cushing’s syndrome:

obesity with central distribution, moon facies, supraclavicular and nuchal fat pads; skin is thin and easily bruised; striae may be evident over the trunk and extremities; female patients may display hirsutism; hypertension may be present

  • Phaeochromocytoma:

examination between paroxysms of catecholamine release may be normal; some patients have sustained hypertension

  • Kyphoscoliosis and pectus excavatum:

pectus excavatum is characterised by lower sternum concavity and mild restriction to chest expansion, and has associated scoliosis in up to 15% of cases; kyphoscoliosis is characterised by anterior and lateral spinal deformation; degree of scoliosis and kyphosis may be under-appreciated due to compensatory changes in other bony structures

  • Diphtheria:

typical brown-grayish pseudomembrane may be seen on the tonsils and/or pharynx

Appropriate lab investigations may then be requested to strengthen clinical impression made at the end of history and examination.