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- •Preface
- •Contents
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Cohort Study
- •Contributors
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Risk Scoring
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Clinical Trial
- •Cohort Study
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Special Populations
- •Pediatric Considerations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Clinical Trial
- •Cohort Study
- •Comparative Study
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Risk Scoring
- •Special Populations
- •Comorbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Cohort Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Clinical Trial
- •Cohort Study
- •Case Study
- •Editorial/Comment
- •Primary Differential Considerations
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Electrocardiography
- •Cardiac Enzymes
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Cohort Study
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors that Suggest Diagnosis
- •Factors that Exclude Diagnosis
- •Ancillary Studies
- •Electrocardiography
- •Imaging
- •Special Populations
- •Co-Morbidities
- •Mimics
- •Time Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Meta-Analysis
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Other Studies
- •Special Populations
- •Pediatrics
- •Elderly
- •Pregnancy
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Cohort Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory Studies
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Special Populations
- •Co-morbidities
- •Pediatric Considerations
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Cohort Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Cohort Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Pulmonary Function Tests
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Clinical Trial
- •Comparative Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Cohort Study
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Special Populations
- •Co-morbidities
- •Pregnancy
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Imaging
- •Electrocardiography
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Clinical Trial
- •General
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Imaging
- •Electrocardiography
- •Cardiac Enzymes
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •General
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Special Populations
- •Children
- •The Elderly
- •During Pregnancy
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Meta-Analysis
- •Review
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary studies
- •Electrocardiography
- •Laboratory
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence:
- •Cohort Study
- •Comparative Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Other Studies
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Review
- •Case Study
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Imaging
- •Other
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Meta-Analysis
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors that Suggest Diagnosis
- •Factors that Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Other Studies
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Practice Guideline
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations
- •Factors That Suggest Diagnosis
- •Factors That Exclude Diagnosis
- •Ancillary Studies
- •Laboratory
- •Electrocardiography
- •Imaging
- •Other Studies
- •Special Populations
- •Co-morbidities
- •Mimics
- •Time-Dependent Interventions
- •Disease Course
- •Related Evidence
- •Review
- •Incidence/Epidemiology
- •Differential Diagnosis
- •Presentation
- •Typical/“Classic”
- •Atypical
- •Primary Differential Considerations

21 Cyanide Poisoning
Factors That Exclude Diagnosis
• There is no clinical exclusion for cyanide poisoning when the presentation is
suggestive.
Ancillary Studies
Laboratory
• Basic metabolic panel to assess for anion gap metabolic acidosis
• Serum lactate:
• Closely correlates with severity of cyanide toxicity
• A normal level casts doubt on true cyanide poisoning.
• Levels may be used to monitor treatment progress.
• Central venous blood gas to assess venous arterial PO2 gradient
• Carboxyhemoglobin and methemoglobin levels in concomitant carbon monoxide exposure
• Cyanide levels:
323
• May be obtained for diagnostic conrmation, but results will not be avail-
able in time to be clinically useful and may be unreliable
• Levels do not correlate directly with survivability.
Special Populations
Age
• Sodium nitrite–induced 20–30 % level of methemoglobinemia may be lethal
in children or anemic patients and should not be given to pregnant patients.
• Pediatric patients are thought to be vulnerable to cyanide exposure because of
their higher respiratory rates and immature detoxication systems.
Co-morbidities
• Patients with limited cardiopulmonary reserve who are exposed to cyanide
have a poorer prognosis.

324
C. V. Pollack, Jr. et al.
Pregnancy
• Fetal demise is possible in cyanide poisoning. Aggressive support and antidotal treatment of the mother are essential.
Pitfalls inDiagnosis
Critical Steps Not toMiss
• The presentation of carbon monoxide poisoning from smoke inhalation is
similar to that of cyanide poisoning; thus, clinicians often focus on carboxyhemoglobin levels, neglecting coexistent cyanide toxicity.
Mimics
• Mimics of cyanide poisoning include those listed as differential considerations, especially
• Carbon monoxide poisoning
• Phosgene exposure
• Hydrogen sulde poisoning
• Arsine exposure
• Inert gas exposure
Time-Dependent Interventions
• If clinical history and exam suggest cyanide poisoning, antidotal therapy must
be given immediately.
Overall Principles ofTreatment
• Decontaminate as soon as possible, removing patient from cyanide source.
• Rescuers should wear protective suits and respirators until proper decon-
tamination is complete.
• Antidotal treatment involves three strategies: binding of cyanide, use of sulfur
donors, and induction of methemoglobinemia.
• Hydroxocobalamin, a precursor of vitamin B
that avidly binds to intracellular cyanide, forming cyanocobalamin.
, contains a cobalt moiety
12

21 Cyanide Poisoning
• Cyanocobalamin is excreted in urine.
• Sodium thiosulfate
• Sulfur donor excreted renally
• +/− Sodium nitrite
• Induces methemoglobinemia, with the goal of a 20–30 % methemoglobin
level if tolerated
• It is CONTRAINDICATED in cases of potential carbon monoxide
toxicity.
• May cause hypotension and tachycardia, vasodilation
Disease Course
• Prognosis depends on level of exposure and extent of symptoms at
presentation.
• Even in patients with severe symptoms such as seizures at presentation,
prompt administration of antidote improves prognosis.
• The exception is cardiac arrest, in which even early antidote administration
is unlikely to reverse the very poor prognosis.
325
• Patients who survive cyanide poisoning sometimes have long-term central
nervous system complications, such as movement disorders and neuropsychiatric problems.
• Suicide attempts with cyanide often are successful because of the deliberately
high toxin load.
Related Evidence
Papers of particular interest have been highlighted as:
** Of key importance
Practice Guideline
Anseeuw K, Delvau N, Burillo-Putze G, De Iaco F, Geldner G, Holmström P,
Lambert Y, Sabbe M. Cyanide poisoning by re smoke inhalation: a European
expert consensus. Eur J Emerg Med. 2013 Feb;20(1):2-9. https://doi.org/10.1097/
MEJ.0b013e328357170b. PMID: 22828651. http://www.ncbi.nlm.nih.gov/
pubmed/22828651 **

326
C. V. Pollack, Jr. et al.
Review
Huzar TF, George T, Cross JM.Carbon monoxide and cyanide toxicity: etiology,
pathophysiology and treatment in inhalation injury. Expert Rev Respir Med.
2013 Apr;7(2):159-70. https://doi.org/10.1586/ers.13.9. PMID: 23547992.
http://www.ncbi.nlm.nih.gov/pubmed/23547992 **
Dries DJ, Endorf FW.Inhalation injury: epidemiology, pathology, treatment strate-
gies. Scand J Trauma Resusc Emerg Med. 2013 Apr 19;21:31. https://doi.
org/10.1186/1757-7241-21-31. PMID: 23597126. http://www.ncbi.nlm.nih.gov/
pubmed/23597126 **
Reade MC, Davies SR, Morley PT, Dennett J, Jacobs IC; Australian Resuscitation
Council. Review article: management of cyanide poisoning. Emerg Med Australas.
2012 Jun;24(3):225-38. https://doi.org/10.1111/j.1742-6723.2012.01538.x.
PMID: 22672162. http://www.ncbi.nlm.nih.gov/pubmed/22672162 **
O’Brien DJ, Walsh DW, Terriff CM, Hall AH.Empiric management of cyanide tox-
icity associated with smoke inhalation. Prehosp Disaster Med. 2011 Oct;26(5):374-
82. https://doi.org/10.1017/S1049023X11006625. PMID: 22336184. http://
www.ncbi.nlm.nih.gov/pubmed/22336184 **
Barillo DJ. Diagnosis and treatment of cyanide toxicity. J Burn Care Res. 2009
Jan-Feb;30(1):148-52. https://doi.org/10.1097/BCR.0b013e3181923b91. PMID:
19060738. http://www.ncbi.nlm.nih.gov/pubmed/19060738 **
Geller RJ, Barthold C, Saiers JA, Hall AH.Pediatric cyanide poisoning: causes, man-
ifestations, management, and unmet needs. Pediatrics. 2006 Nov;118(5):2146- 58.
PMID: 17079589. http://www.ncbi.nlm.nih.gov/pubmed/17079589 **
Beasley DM, Glass WI.Cyanide poisoning: pathophysiology and treatment recom-
mendations. Occup Med (Lond). 1998 Oct;48(7):427-31. PMID: 10024740.
http://www.ncbi.nlm.nih.gov/pubmed/10024740 **
Use PubMed Clinical Queries to nd the most recent evidence. Use this search
strategy:
“Cyanide Poisoning” OR “Cyanide Toxicity”

Chapter 22
Cyanotic Congenital Heart Disease
RichardM.Cantor, CharlesV.Pollack,Jr., andJaimeFrielBlanck
Name andSynonyms
Cyanotic Congenital Heart Disease
• Refers to a subset of congenital cardiac malformations that favor the development of variable degrees of cyanosis.
• The vast majority of malformations will present in the newborn period and
will be diagnosed in the neonatal setting.
• There are, however, variant forms which will “escape” neonatal diagnosis and
have their initial cyanotic presentations in the Emergency Department.
• Late presentations are usually encountered in infants with ductus-dependent
lesions necessary for pulmonary blood ow (generally left sided outow
obstructions such as hypoplastic left ventricle or coarctation of the aorta).
Incidence/Epidemiology
• Fifteen to 20 percent of all congenital heart disease cases are of the cyanotic
variety.
• Cyanotic forms account for nearly 30 percent of fatal cases.
R. M. Cantor
Department of Emergency Medicine and Pediatrics, State University of NewYork Upstate
Medical University, Syracuse, NY, USA
C. V. Pollack,
Department of Emergency Medicine, Thomas Jefferson University,
Philadelphia, PA, USA
J. F. Blanck
Welch Medical Library, Johns Hopkins University, Baltimore, MD, USA
C. V. Pollack, Jr. (ed.), Differential Diagnosis of Cardiopulmonary Disease,
https://doi.org/10.1007/978-3-319-63895-9_22
Jr. ()
327© Springer Nature Switzerland AG 2019

328
R. M. Cantor et al.
Differential Diagnosis
• Should be considered in the differential diagnosis of cyanotic congenital heart
disease, often represented by the “5 T’s”:
• Truncus Arteriosus
• Transposition of the Great Arteries
• Tricuspid Atresia
• Tetralogy of Fallot
• Total Anomalous Pulmonary Venous Return
• There are other causes of cyanosis in young infants, most traditionally classied into pulmonary insults and hemoglobinopathies (i.e., Methemoglobinemia)
Pathophysiology andEtiology
• The essential common pathway that serves as the basis for all congenital cyanotic cardiac lesions is an inability to deliver oxygen to the general circulation
and therefore peripheral target organs.
• The predominant pathophysiology involves variable degrees of right-to-left
shunting. Systemic (deoxygenated) blood is unable to access the alveoli,
returning to the left side of the heart without being oxygenated. In most cases
of cyanotic heart disease, the shunt is intracardiac.
Tetralogy of Fallot. (a, b) Tetralogy of Fallot, the most common cause of cyanotic
congenital heart disease, consists of a membranous VSD right ventricular outow
obstruction, rightward displacement of the aorta (AO), and secondary right ventricular hypertrophy. The right ventricular outow obstruction may take the form of
hypoplasia of the pulmonary trunk (PT), pulmonary valvular malformation and stenosis, outow tract (infundibular) hypoplasia and narrowing, or a combination of all

22 Cyanotic Congenital Heart Disease
three components, as seen in this case [Buja LM, Cheong B. Cardiovascular
Pathology. In: Krueger GRF, Buja LM, editors. Atlas of Anatomic Pathology with
Imaging [Internet]. London: Springer London; 2013 [cited 2016 Jul 29]. p.43–104.
Available from:
from original
http://link.springer.com/10.1007/978-1-4471-2846-5_2] Caption
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Presentation
Typical/“Classic”
• Most entities will present within the rst few hours of life, with diagnosis
made before discharge from the newborn unit.
• Other entities, specically those with ductal dependency, will only present
when the duct closes. The infants will present with varying degrees of shock
and/or cyanosis (usually left sided outow obstructive lesions such as an
interrupted aortic arch).
Atypical
• Infants with Tetrology of Fallot may “escape” diagnosis in the rst few days of
life, presenting to the ED with what are known as “Tet (hypercyanotic) Spells.”
• Management of Hypercyanotic Spells:
• Provision of supplemental oxygen.
• Placement in the knee chest position.
• Sedation with morphine (0.1 mg/kg/dose)
• Administration of 10-20 cc/kg of normal saline
• Immediate consultation with a pediatric cardiologist
Primary Differential Considerations
• These specic diagnoses should be considered in patients who present with
signs and symptoms of congenital cyanotic heart disease:
• tricuspid atresia
• Ebstein’s malformation of the tricuspid valve
• severe pulmonic stenosis with intact ventricular septum
• complete transposition of the great vessels
• truncus arteriosus.

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History andPhysical Exam
• As previously described, the majority of cyanotic congenital lesions will be
diagnosed and treated within the rst few days of life.
• In some patients, cyanotic presentations may be quite dramatic, unresponsive
to any degree of supplemental oxygen (the hyperoxia test).
• Other patients will present with hypoperfusion and frank hypotension.
Administration of isotonic volume replacement will often worsen the clinical
status, alerting the clinician to the possibility of a cardiogenic etiology as the
cause of shock.
• Each particular malformation has a specic set of physical and radiographic
ndings.
• The presence or absence of a murmur is variable and often not integral in
making the diagnosis.
Clubbing. (a) The angle at the junction of skin with the nail at the dorsal surface of
digits is normally around 160°. (b) In children with cyanotic congenital heart diseases this angle becomes wider and may exceed 180°. This is the result of hypoxia
in peripheral tissue, which causes the opening of normally collapsed capillaries to
better perfuse the hypoxic tissue. Perfusion of these collapsed capillaries will result
in expansion of the volume of these peripheral tissues (tips of digits) resulting in
clubbing. This phenomenon is seen in other lesions causing hypoxia of peripheral
tissue, such as with chronic lung disease and chronic anemia (causing hypoxia
through reduction of level of hemoglobin and therefore reduction of oxygen carrying capacity) such as with ulcerative colitis, Crohn’s disease, and chronic liver disease [Thompson WR, Mehrotra SM.Cardiac History and Physical Examination. In:
Abdulla R, editor. Heart Diseases in Children [Internet]. Boston, MA: Springer US;
2011 [cited 2016 Jul 29]. p. 3–16. Available from: http://link.springer.
com/10.1007/978-1-4419-7994-0_1
] Caption from original
Findings That Conrm Diagnosis
• Echocardiography remains the gold standard.

22 Cyanotic Congenital Heart Disease
Factors That Suggest Diagnosis
• The use of the hyperoxia test is traditionally employed to differentiate between
pulmonary, cardiac, and hematologic causes of cyanosis in infancy.
• Administer supplemental oxygen.
• If OSAT rises, it is most likely pulmonary disease.
• If OSAT does not rise, consider Cyanotic Heart Disease or Methemoglo
binemia.
• With the patient on 100% supplemental O
, and the pO2 is high and OSAT is
2
low, consider Methemoglobinemia as an etiology,
• With the patient on 100% supplemntalO2, and the pO2 is low and the OSAT is
low, consider cyanotic heart disease as an etiology.
Factors That Exclude Diagnosis
• A normal echocardiogram.
Ancillary Studies
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Imaging
• There are certain classic radiographic ndings associated with specic forms
of cyanotic heart disease in infants:
• Cardiomegaly is seen with left-sided outow obstructive lesions.
• A boot-shaped heart is seen with Tetralogy.
• An “egg-on-a-string” pattern is seen with Transposition.
Utility of chest radiography in CHD.A: Chest radiograph of a neonate with d-transposition of the great arteries, appearing as an “egg on a string” appearance of the

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heart and mediastinum. This pattern-based approach to cardiac morphology is inaccurate and is rarely helpful for clinical management. Cardiac morphology is determined by echocardiography in the neonatal period while the chest radiograph sheds
light on physiology. B: Neonate with complex cyanotic congenital heart disease,
including mitral atresia, total anomalous pulmonary venous connection to the coronary sinus, double outlet right ventricle, and pulmonary stenosis. The chest radiograph demonstrated decreased pulmonary vascularity, which enabled
decision- making regarding initial palliative treatment. The pulmonary blood ow
was augmented using a modied Blalock–Taussig shunt. [Krishnamurthy R,
Chitkara P.Evidence-Based Approach to Imaging of Congenital Heart Disease. In:
Medina LS, Applegate KE, Blackmore CC, editors. Evidence-Based Imaging in
Pediatrics [Internet]. NewYork, NY: Springer NewYork; 2010 [cited 2016 Jul 29].
p. 339–58. Available from: http://link.springer.com/10.1007/978-1-4419-0922-
0_24] Caption from original
A neonate with a congenital cyanotic heart disease born at 39 weeks. Maximum
support and 100% oxygen did not lead to clinical improvement and the child died.
T2-W coronal MRI shows a complete anomalous venous return (arrow) with pulmonary interstitial oedema (insert). A central tendon defect is seen (open arrow)
(slice thickness: 2 mm, TR: 5500, TE: 54, FA: 180°). b T2-W coronal MRI shows a
persistent left superior caval vein (arrow), a dextrocardia and situs intermedius of
the liver. Asplenia was also noted [From article: Current techniques in postmortem
imaging with specic attention to paediatric applications. Pediatric Radiology. 2010
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