Cyanosis differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Differential Diagnosis of Central Cyanosis

Differential Diagnosis of Peripheral Cyanosis

Differential diagnosis

Abbreviations: AP= Anteroposterior, CXR= Chest X-ray, CT= Computed tomography, ABG= Arterial blood gas, V/Q= Ventilation/perfusion scan , EKG= Electrocardiogram, COPD= Chronic obstructive pulmonary disease, BNP= Brain natriuretic peptide, DVT= Deep vein thrombosis, HRCT= High Resolution CT, IgE= Immunoglobulin E

Diseases Cyanosis Clinical manifestations Para-clinical findings Gold standard Additional findings
Symptoms Physical examination
Lab Findings Imaging
Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation CBC ABG Electrolytes Other X-ray CT scan Other
Pulmonary diseases Airway disorder Severe croup[1] + - + +/- - - - Stridor Lymphocytosis Normal Normal - Steeple sign - Distended hypopharynx during inspiration Clinical findings Intercostal and subcostal retraction, Barking cough
Epiglottitis + - + + - - - Stridor Leukocytosis with neutrophilia Normal Normal - Thumb sign - - Laryngoscopy Muffled voice, Drooling
Foreign body aspiration + - + - +/- - - Decreased breath sounds, Wheezing Normal Normal Normal - Hyperinflation, Atelectasis, Objects Foreign body entrapment with edema or granulation tissue - Bronchoscopy Mediastinitis
Bacterial tracheitis + - + + + - - Inspiratory stridor Leukocytosis Normal Normal Blood culture, Gram stain Irregular tracheal margin - Steeple sign (confusing) Laryngotracheobronchoscopy Brassy cough, Hoarseness
Parenchymal

disorder

Pneumonia - + + + + +/- - Rales, crackles, Wheeze, Pleural friction rub Leukocytosis, Pancytopenia Normal Hyponatremia - Entire lobe consolidated, Air bronchograms Focal ground-glass opacity - HRCT Tachycardia, Bradycardia (Legionella)
Asthma (Late) - + + - +/- +/- - End expiratory wheeze Eosinophilia ↓O2, ↑CO2 Normal ↑ IgE Atelectasis Allergic bronchopulmonary aspergillosis, Bronchiectasis - Spirometry before and after bronchodilator Triad of asthma, nasal polyps, and rash is indicative of aspirin sensitivity.
Cystic fibrosis + - +/- +/- + - Wheeze, Crackles Normal ↓O2, ↑CO2 Increased sweat chloride Sweat chloride test Hyperinflation, Nodules Peribronchial thickening, Bronchiectasis - Sweat chloride test Absent vas deferens
COPD

(Severe emphysema)

+ - + +/- + +/- +/- Reduced breath sounds, Wheeze, Inspiratory crackles Polycythemia ↓O2, ↑CO2 Normal Alpha 1-antitrypsin test Elongated heart, Flattened diaphragms, Prominent hilar vasculature Bullae - HRCT Pulmonary hypertension, Right heart failure
Pulmonary vascular disorders Massive pulmonary embolism + - + +/- + - +/- Reduced breath sounds, Crackles, Loud P2 Leukocytosis ↓O2, ↑CO2, Respiratory acidosis Normal D-dimer, BNP Fleischner sign, Hampton hump, Westermark sign, Pleural effusion  Filling defects in the pulmonary vasculature Spiral CT pulmonary angiogram Spiral CT pulmonary angiogram Tachycardia, Shock, Pulmonary hypertension
Pulmonary arterio-venous malformation[2][3][4] - + + - + + - Pulmonary bruit Normal ↓O2, ↑CO2, Respiratory acidosis Normal - One or more rounded or multilobular opacities Connecting vessel in hilum Magnetic resonance angiography, Echocardiography Contrast enhanced magnetic resonance angiography  Cerebral arteriovenous malformation
Chest wall disorders Flail chest[5] + - + - + - - Normal Normal ↓O2, ↑CO2 Normal - ≥3 adjacent ribs with segmental fractures, >5 adjacent rib fractures - - CXR Bruises over chest
Pneumothorax[6] + - + - + - - Diminished breath sounds Normal ↓O2, ↑CO2 Normal - No lung marking on one side, Collapsed lung Loculated air in thoracic cavity M-mode ultrasonography Chest CT scan Tachypnea
Disease Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation CBC ABG Electrolytes Other X-ray CT scan Other Gold standard Additional findings
Cardiovascular diseases Congenital disorders Atrioventricular canal defect[7] +/- + + - +/- +/- - Wheezing,Holosystolic or systolic ejection murmur Normal Normal Normal Pulse oximetry Cardiomegaly, Increased pulmonary vascular markings Normal Echocardiography, MRI Echocardiography Tachypnea, Lack of appetite, Pale skin color, Excessive sweating
Ebstein anomaly[8] - + +/- - +/- - - Loud S1 Normal Normal Normal Pulse oximetry Cardiomegaly, "Box shape" heart Apical displacement of the septal and posterior leaflets of the tricuspid valve "Atrialisation" of the right ventricle in MRI, Tricuspid regurgitation in echocardiography Echocardiography Fatigue, Palpitations
Tetralogy of Fallot[9] - + +/- - +/- - - Harsh systolic murmur Normal Normal Normal Pulse oximetry "Boot-shaped" heart with an upturned cardiac apex Aortopulmonary collateral vessels Peripheral pulmonary stenosis and atresia in echocardiography Echocardiography Fainting, Palpitation
Pulmonic stenosis[10] - + + - + +/- - Crescendo-decrescendo ejection murmur Schistocyte ↓O2 Normal Pulse oximetry Right ventricular hypertrophy, Dilated main pulmonary artery Stenotic segment, Post stenotic dilatation Severity of the stenosis by velocity encoded phase contrast (VEC) cine sequences Echocardiography Fainting, Palpitation
Total anomalous pulmonary venous connection[11] - + + - +/- +/- - Systolic murmur over the pulmonary area Normal ↓O2 Normal Pulse oximetry Snowman sign Anomalous venous return Blind ended left atrium with no connecting veins in echocardiography Echocardiography Pounding heart, Weak pulse, Extreme sleepiness
Transposition of the great vessels[12] - + + - +/- +/- - Diastolic and Systolic murmur Normal ↓O2 Normal Pulse oximetry Cardiomegaly with narrow superior mediastinum (egg on a string sign) Abnormal great vessel anatomy Flow dynamics on Steady-state free precession (SSFP) MRI Echocardiography Lack of appetite, Poor weight gain
Truncus arteriosus[13] - + +/- - +/- +/- - Holosystolic or ejection type murmur Normal ↓O2 Normal Pulse oximetry Moderate cardiomegaly, pulmonary plethora, Widened mediastinum Single cardiac trunk Anomalous anatomy in MRI Echocardiography Fatigue, Sweating, Pale or cool skin
Acquired disorder Heart failure[14] + - + +/- + - + Coarse crackles, S3 Anemia ↓O2, ↑CO2 Hyponatremia, Hypokalemia, Hypomagnesemia Elevated BNP Pleural effusion, Cardiomegaly Kerley B lines - Radioisotope scan Echocardiography Generalized edema, Hepatomegaly
Valvular heart disease[15] + - + - - - + Murmurs Schistocyte Normal Normal Hyperthyroidism Valve calcification - Valvular dysfunction in echocardiography Echocardiography Syncope, Palpitation
Myocardial infarction[16] - + + +/- + - - S3 and S4 Normal Normal Hyponatremia, Hypokalemia Elevated troponin I and CKMB Rolling out other causes Coronary luminal narrowing in CT perfusion scan Wall motion abnormality in echocardiography Cardiac troponin I Dizziness, Fatigue, Lightheadedness, Cold sweat
Disease Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation CBC ABG Electrolytes Other X-ray CT scan Other Gold standard Additional findings
Central Nervous system Methemoglobinemia ✔ + + + Family history of methemoglobinemia or glucose-6-phosphate dehydrogenase (G6PD) deficiency is important to determine.
Polycythemia ✔ + + Tenderness in the sternum may indicate transformation to acute myeloid leukemia and should be properly investigated.
Breath holding spells ✔
  • video-EEG monitoring can be use in non diagnostic cases.
  • Cyanotic breath-holding spells most commonly occur around 1 year of age with a range of six months to four years.
  • Iron deficiency anemia is more prevalent in children with breath-holding spells.
Miscellaneous Shock ✔ + + (septic shock) + + (Cardiogenic shock)
Smoke inhalation + + +

Electrolytes

BUN and CR,

Lactate levels

Toxicology screen

CO-oximetry

  • CO toxicity should be suspected in any patient who presents following smoke inhalation unless co-oximetry shows normal carboxyhemoglobin.
Cold exposure ✔ − − − − − −
  • CXR
  • Mild hypothermia: core temperature 32 to 35°C ; patient presents with confusion, tachycardia, and increased shivering.
  • Moderate hypothermia: 28 to 32°C patient presents with lethargy, bradycardia and arrhythmia and decreased shivering.
  • Severe hypothermia: below 28°C patient presents with coma, hypotension, arrhythmia, pulmonary edema, and rigidity.
Causes of cyanosis Cyanosis Clinical manifestations/association Diagnosis Additional

findings

Symptoms Signs
Peripheral Central Dyspnea Fever Chest pain Clubbing Peripheral edema Auscultation Lab Findings Imaging Gold standard
Respiratory Airway

disorder

Severe croup[17] ✔ − ✔ ✔ − − − Audible stridor at rest AP Neck X ray for soft tissues:

Lateral neck X ray:

Clinical diagnosis
  • Croupy cough and stridor
  • Intercostal, subcostal retractions
Epiglottitis ✔ − ✔ ✔ − − − Stridor Lateral neck X ray
Coma ✔
Seizures ✔
Head trauma ✔
Breath holding spells ✔
Miscellaneous Shock ✔
Smoke inhalation ✔ + + +
Cold exposure ✔ − − − − − − −
  • CBC
  • Fingerstick glucose (Hyperglycemia)
  • EKG-
    • J wave
    • Sinus bradycardia
    • Prolongation of all ECG intervals.
  • Serum electrolytes -K+ and calcium
  • ABG
Drugs† − − − − −

References

  1. ↑ Cherry, James D. (2008). "Croup". New England Journal of Medicine. 358 (4): 384–391. doi:10.1056/NEJMcp072022. ISSN 0028-4793.
  2. ↑ Khurshid I, Downie GH (2002). "Pulmonary arteriovenous malformation". Postgrad Med J. 78 (918): 191–7. PMC 1742331. PMID 11930021.
  3. ↑ Doshi HM, Robinson S, Chalhoub T, Jack S, Denison A, Gibson G (2009). "Massive spontaneous hemothorax during the immediate postpartum period". Tex Heart Inst J. 36 (3): 247–9. PMC 2696501. PMID 19568398.
  4. ↑ Chanatry BJ (1992). "Acute hemothorax owing to pulmonary arteriovenous malformation in pregnancy". Anesth. Analg. 74 (4): 613–5. PMID 1554132.
  5. ↑ Pettiford BL, Luketich JD, Landreneau RJ (February 2007). "The management of flail chest". Thorac Surg Clin. 17 (1): 25–33. doi:10.1016/j.thorsurg.2007.02.005. PMID 17650694.
  6. ↑ Luh SP (2010). "Review: Diagnosis and treatment of primary spontaneous pneumothorax". J Zhejiang Univ Sci B. 11 (10): 735–44. doi:10.1631/jzus.B1000131. PMC 2950234. PMID 20872980.
  7. ↑ Macris MP, Ott DA, Cooley DA (1992). "Complete atrioventricular canal defect: surgical considerations". Tex Heart Inst J. 19 (3): 239–43. PMC 326195. PMID 15227445.
  8. ↑ Safi LM, Liberthson RR, Bhatt A (September 2016). "Current Management of Ebstein's Anomaly in the Adult". Curr Treat Options Cardiovasc Med. 18 (9): 56. doi:10.1007/s11936-016-0478-2. PMID 27439413.
  9. ↑ Bailliard F, Anderson RH (2009). "Tetralogy of Fallot". Orphanet J Rare Dis. 4: 2. doi:10.1186/1750-1172-4-2. PMC 2651859. PMID 19144126.
  10. ↑ Yoo BW, Park HK (2013). "Pulmonary stenosis and pulmonary regurgitation: both ends of the spectrum in residual hemodynamic impairment after tetralogy of Fallot repair". Korean J Pediatr. 56 (6): 235–41. doi:10.3345/kjp.2013.56.6.235. PMC 3693041. PMID 23807889.
  11. ↑ Stein P (March 2007). "Total anomalous pulmonary venous connection". AORN J. 85 (3): 509–20, quiz 521–4. doi:10.1016/S0001-2092(07)60123-9. PMID 17352891.
  12. ↑ Martins P, Castela E (2008). "Transposition of the great arteries". Orphanet J Rare Dis. 3: 27. doi:10.1186/1750-1172-3-27. PMC 2577629. PMID 18851735.
  13. ↑ Van Praagh R (1987). "Truncus arteriosus: what is it really and how should it be classified?". Eur J Cardiothorac Surg. 1 (2): 65–70. PMID 2856609.
  14. ↑ Inamdar AA, Inamdar AC (2016). "Heart Failure: Diagnosis, Management and Utilization". J Clin Med. 5 (7). doi:10.3390/jcm5070062. PMC 4961993. PMID 27367736.
  15. ↑ Maganti K, Rigolin VH, Sarano ME, Bonow RO (2010). "Valvular heart disease: diagnosis and management". Mayo Clin Proc. 85 (5): 483–500. doi:10.4065/mcp.2009.0706. PMC 2861980. PMID 20435842.
  16. ↑ "Myocardial Infarction (Heart Attack): Symptoms - National Library of Medicine - PubMed Health".
  17. ↑ Cherry, James D. (2008). "Croup". New England Journal of Medicine. 358 (4): 384–391. doi:10.1056/NEJMcp072022. ISSN 0028-4793.
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