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22 Cyanotic Congenital Heart Disease
Feb;40(2):141–52. https://doi.org/10.1007/s00247-009-1486-0, at http://link.
springer.com/article/10.1007/s00247-009-1486-0; by Tessa Sieswerda-
Hoogendoorn, Rick R. van Rijn, © The Author(s) 2009; licensed under Creative
Commons Attribution License BY 2.0
Caption from original
http://creativecommons.org/licenses/by/2.0]
333
Electrocardiography
Typical ECG ndings in various cyanotic congenital heart diseases [Gupta SK.
Clinical Approach to a Neonate with Cyanosis. The Indian Journal of Pediatrics.
2015 Nov;82(11):1050–60.] Caption from original
• Cardiac Enzymes
• Not indicated.
Special Populations
Age
• As discussed, most cases are diagnosed in the rst few days of life.
Co-morbidities
• TAPVR is associated with asplenia or polysplenia.
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R. M. Cantor et al.
Pitfalls inDiagnosis
• Cyanotic variant
• Emergency pediatric cardiology consultation is warranted.
• Acyanotic variety
• Adherence to strict algorhythmic workups of neonatal CHF or respiratory
distress will eventually uncover the lesion.
Critical Steps Not toMiss
• Provision of supplemental oxygen
• Early ventilator support
• Immediate PICU or Pediatric Cardiology consultation
Mimics
• Any congenital cardiac lesion causing cyanosis and/or CHF
Time-Dependent Interventions
• All interventions are emergent.
Overall Principles ofTreatment
• Support oxygenation.
• Urgent echocardiography.
• Arrange specialty consultation to evaluate for surgical management.
Disease Course
• Surgical correction is almost always indicated—the earlier the better.
• Long-term outcomes are dramatically improved after full correction (less
than 5%).
22 Cyanotic Congenital Heart Disease
335
ab
1.00
Survival Probability
0.95 0.96 0.97 0.98 0.99 1.00
0.94
0
24
6810
Time (years)
Survival Probability
0.90 0.92 0.94 0.96 0.98
024
6810
Time (years)
cd
1.00
Survival Probability
0.94 0.96 0.98 1.00
024
6810
Time (years)
Survival Probability
0.94 0.96 0.98
024
6810
Time (years)
e
Survival Probability
0.95 0.96 0.97 0.98 0.99 1.00
024
6810
Time (years)
Cox survival curves adjusted for age and sex with surgery (solid line) and without
surgery (dashed line) of congenital heart diseases patients. Time = 0, time at one and
half year of follow-up. (A) Overall congenital heart diseases; (B) Cyanotic congenital heart diseases; (C) Noncyanotic congenital heart diseases; (D) ventricular septal defect; (E)ostium or secundum type atrial septal defect. [From article:
Majoradverse cardiovascular events in adult congenital heart disease: a populationbased follow-up study from Taiwan. BMC Cardiovascular Disorders. 2014
Dec;14:38. https://doi.org/10.1186/1471-2261-14-38, at http://link.springer.com/
article/10.1186/1471-2261-14-38; by Yu-Sheng Lin, Pi-Hua Liu, Lung-Sheng Wu,
Yu-Ming Chen, Chee-Jen Chang, Pao-Hsien Chu, © Lin etal.; licensee BioMed
Central Ltd. 2014; licensed under Creative Commons Attribution License BY 2.0
http://creativecommons.org/licenses/by/2.0] Caption from original
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Related Evidence
Papers of particular interest have been highlighted as:
** Of key importance
Practice Guideline
Mahle WT, Sable CA, Matherne PG, Gaynor JW, Gewitz MH; American Heart
Association Congenital Heart Defects Committee of the Council on
Cardiovascular Disease in the Young. Key concepts in the evaluation of screening
approaches for heart disease in children and adolescents: a science advisory from
the American Heart Association. Circulation. 2012 Jun 5;125(22):2796-801.
https://doi.org/10.1161/CIR.0b013e3182579f25. Epub 2012 Apr 30. PubMed
PMID: 22547669. http://www.ncbi.nlm.nih.gov/pubmed/?term=22547669 **
Review
Strobel AM, Lu le N.The Critically Ill Infant with Congenital Heart Disease. Emerg
Med Clin North Am. 2015 Aug;33(3):501-18. https://doi.org/10.1016/j.
emc.2015.04.002. PubMed PMID: 26226862. http://www.ncbi.nlm.nih.gov/
pubmed/26226862 **
Sorantin E, Heinzl B.What every radiologist should know about paediatric
echocardiography. Eur J Radiol. 2014 Sep;83(9):1519-28. https://doi.org/10.1016/j.
ejrad.2014.05.030. Epub 2014 May 29. PubMed PMID: 24938668. http://www.
ncbi.nlm.nih.gov/pubmed/?term=24938668 **
Schranz D, Michel-Behnke I.Advances in interventional and hybrid therapy in neo-
natal congenital heart disease. Semin Fetal Neonatal Med. 2013 Oct;18(5):311- 21.
https://doi.org/10.1016/j.siny.2013.05.005. Epub 2013 Jun 10. PubMed PMID:
23759171. http://www.ncbi.nlm.nih.gov/pubmed/?term=23759171 **
Barata IA. Cardiac emergencies. Emerg Med Clin North Am. 2013
Aug;31(3):677- 704.
23915599. http://www.ncbi.nlm.nih.gov/pubmed/?term=23915599 **
Sharkey AM, Sharma A.Tetralogy of Fallot: anatomic variants and their impact on
surgical management. Semin Cardiothorac Vasc Anesth. 2012 Jun;16(2):88-96.
https://doi.org/10.1177/1089253211434566. Epub 2012 Jan 24. PubMed PMID:
22275348. http://www.ncbi.nlm.nih.gov/pubmed/?term=22275348 **
Dolbec K, Mick NW.Congenital heart disease. Emerg Med Clin North Am. 2011
Nov;29(4):811-27, vii.
PMID: 22040709. http://www.ncbi.nlm.nih.gov/pubmed/?term=22040709 **
https://doi.org/10.1016/j.emc.2013.04.007. PubMed PMID:
https://doi.org/10.1016/j.emc.2011.08.005. PubMed
22 Cyanotic Congenital Heart Disease
Skold A, Cosco DL, Klein R.Methemoglobinemia: pathogenesis, diagnosis, and
management. South Med J. 2011 Nov;104(11):757-61. https://doi.org/10.1097/
SMJ.0b013e318232139f. PubMed PMID: 22024786. http://www.ncbi.nlm.nih.
gov/pubmed/?term=22024786
Richards AA, Garg V.Genetics of congenital heart disease. Curr Cardiol Rev. 2010
May;6(2):91-7. https://doi.org/10.2174/157340310791162703. PubMed PMID:
21532774; PubMed Central PMCID: PMC2892081. http://www.ncbi.nlm.nih.
gov/pubmed/?term=21532774
Kornosky JL, Salihu HM.Getting to the heart of the matter: epidemiology of cya-
notic heart defects. Pediatr Cardiol. 2008 May;29(3):484-97. https://doi.
org/10.1007/s00246-007-9185-9. Epub 2008 Jan 10. PubMed PMID: 18185949.
http://www.ncbi.nlm.nih.gov/pubmed/?term=18185949 **
Silberbach M, Hannon D.Presentation of congenital heart disease in the neonate
and young infant. Pediatr Rev. 2007 Apr;28(4):123-31. PubMed PMID:
17400823.
Marino BS, Bird GL, Wernovsky G.Diagnosis and management of the newborn with
suspected congenital heart disease. Clin Perinatol. 2001 Mar;28(1):91-136. PubMed
PMID: 11265513.
Nouri S. Congenital heart defects: cyanotic and acyanotic. Pediatr Ann. 1997
Feb;26(2):92, 95-8. PubMed PMID: 9121846. http://www.ncbi.nlm.nih.gov/
pubmed/?term=9121846
Kelley MJ, Jaffe CC, Shoum SM, Kleinman CS.A radiographic and echocardio-
graphic approach to cyanotic congenital heart disease. Radiol Clin North Am.
1980 Dec;18(3):411-40. PubMed PMID: 7005931. http://www.ncbi.nlm.nih.
gov/pubmed
http://www.ncbi.nlm.nih.gov/pubmed/?term=17400823 **
http://www.ncbi.nlm.nih.gov/pubmed/?term=11265513 **
337
Clinical Trial
Dilli D, Aydin B, Zenciro÷lu A, Özyazici E, Beken S, Okumuú N.Treatment out-
comes of infants with cyanotic congenital heart disease treated with synbiotics.
Pediatrics. 2013 Oct;132(4):e932-8. https://doi.org/10.1542/peds.2013-1262.
Epub 2013 Sep 16. PubMed PMID: 24043284. http://www.ncbi.nlm.nih.gov/
pubmed/?term=24043284
General
Patra S, Rama Sastry UM, Mahimaiha J, Subramanian AP, Shankarappa RK,
Nanjappa MC. Spectrum of cyanotic congenital heart disease diagnosed by
echocardiographic evaluation in patients attending paediatric cardiology clinic
of a tertiary cardiac care centre. Cardiol Young. 2015 Jun;25(5):861-7. https://
doi.org/10.1017/S1047951114000882. Epub 2014 Jun 10. PubMed PMID:
24914874. http://www.ncbi.nlm.nih.gov/pubmed/?term=24914874
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Donofrio MT, Moon-Grady AJ, Hornberger LK, Copel JA, Sklansky MS, Abuhamad
A, Cuneo BF, Huhta JC, Jonas RA, Krishnan A, Lacey S, Lee W, Michelfelder
EC Sr, Rempel GR, Silverman NH, Spray TL, Strasburger JF, Tworetzky W,
Rychik J; American Heart Association Adults With Congenital Heart Disease
Joint Committee of the Council on Cardiovascular Disease in the Young and
Council on Clinical Cardiology, Council on Cardiovascular Surgery and
Anesthesia, and Council on Cardiovascular and Stroke Nursing. Diagnosis and
treatment of fetal cardiac disease: a scientic statement from the American Heart
Association. Circulation. 2014 May 27;129(21):2183-242.
https://doi.
org/10.1161/01.cir.0000437597.44550.5d. Epub 2014 Apr 24. Erratum in:
Circulation. 2014 May 27;129(21):e512. PubMed PMID: 24763516. http://
www.ncbi.nlm.nih.gov/pubmed/?term=24763516 **
Tibbles CD, Bouton M, Lucas JM, Harper M, Horwitz C, Fisher J.Emergency
department management of pediatric patients with cyanotic heart disease and
fever. J Emerg Med. 2013 Mar;44(3):599-604.
jemermed.2012.09.030
. Epub 2012 Dec 23. PubMed PMID: 23267753. http://
https://doi.org/10.1016/j.
www.ncbi.nlm.nih.gov/pubmed/?term=23267753
Use PubMed Clinical Queries to nd the most recent evidence. Use this search
strategy: (“Cyanosis”[Mesh:NoExp] OR “cyanosis” OR “cyanotic”) AND
(“Heart Defects, Congenital”[Mesh] OR “congenital heart defect” OR “congenital heart defects” OR “heart abnormalities” OR “congenital heart disease”)
Chapter 23
Cystic Fibrosis
RichardM.Cantor, CharlesV.Pollack,Jr., andJaimeFrielBlanck
Name andSynonyms
Cystic Fibrosis; CF
• The most common autosomal dominant longevity-reducing disorder among
Caucasian groups.
Incidence/Epidemiology
• Cystic brosis has a reported incidence of 1in 2,500 live births.
• Although it is most commonly reported in Caucasian children, due to
enhanced diagnostic testing, recognition of cases in non-white populations
are on the rise.
• The median predicted survival rate is approximate 37– 38 years.
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_23
Jr. ()
339© Springer Nature Switzerland AG 2019
340
R. M. Cantor et al.
Differential Diagnosis
• Any immune deciency disorder may present with pulmonary ndings com-
monly seen in CF.
Pathophysiology andEtiology
• CF is transmitted genetically in an autosomal dominant pattern.
Cystic brosis inheritance pattern. This gure shows the inheritance pattern for
children born with cystic brosis. If both the mother and father are carriers of the
gene then they have a one in four chances of having a child with cystic brosis
[Murphy AJ, Davies PSW. Anthropometry in Children with Cystic Fibrosis. In:
Preedy VR, editor. Handbook of Anthropometry [Internet]. NewYork, NY: Springer
New York; 2012 [cited 2015 Sep 14]. p. 1571–83. Available from:
springer.com/10.1007/978-1-4419-1788-1_96] Caption from original
http://link.
• The disorder is secondary to mutations in the cystic brosis trans membrane
conductance regulator (CFTR) protein.
• The mutation impairs normal transport of chloride and other ions, leading to
the production of thick viscous secretions commonly seen in target organs
such as the lungs, liver, pancreas, and reproductive tract.
Presentation
Typical/“Classic”
• Most cases are detected by newborn screening and performance of sweat
chloride testing in identied infants and children.
• There is a myriad of clinical manifestations of CF, including:
23 Cystic Fibrosis
341
• Respiratory
• Chronic cough
• Sinusitis
• Asthma
• Bacterial colonization of the respiratory tract
• Clubbing of the digits
Clubbing of the ngers [Karkucak M, Erturk E, Capkin E, Akyazi H, Ozden G,
Tosun M. Primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case
report. Rheumatology International. 2007 Jan 11;27(4):403–5.] Caption from
original
• Nasal polyps
A pedunculated nasal polyp in a patient with cystic brosis. The polyp is obstructing the left nostril. Polyps commonly arise from the maxillary antrum. Chronic
inammation results in vasodilatation and edema of the mucosa. This initially
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causes mucosal hypertrophy, resulting in irregular folds within the mucosa. As the
mucosa enlarges, it may herniate into the nasal cavity, creating a pedunculated
polyp that may completely occlude the middle meatus. [MacLusky I, Solomon M,
Laxer R, Ford-Jones EL, Friedman J, Gerstle T. Atlas of Pediatrics, Volume IA,
Chapter 14. In: Laxer RM, editor. The Hospital for Sick Children: Atlas of Pediatrics.
Philadelphia, PA: Current Medicine Group; 2005. 519 p. ISBN 1-57340-188-9]
Caption from original
• Gastrointestinal
• Varying degrees of pancreatic insufciency
• Meconium ileus
Meconium ileus in cystic brosis. The bowel lumen is plugged with meconium
[Gilbert-Barness E, Spicer DE, Steffensen TS. Gastrointestinal (GI) System.
Handbook of Pediatric Autopsy Pathology [Internet]. New York, NY: Springer
NewYork; 2014 [cited 2015 Sep 14]. p.355–75. Available from: http://link.springer.
com/10.1007/978-1-4614-6711-3_10] Caption from original