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Critical Congenital Heart Disease

Other Names

CCHD

Diagnosis Coding

Q20.0, common arterial trunk

Q20.3, discordant ventriculoarterial connection

Q21.3, tetralogy of Fallot

Q22.0, pulmonary valve atresia

Q22.4, congenital tricuspid stenosis

Q23.4, hypoplastic left heart syndrome

Q26.2, total anomalous pulmonary venous connection

Disorder Category

A genetic disorder

Screening

Finding

Low oxygen saturation

Tested By

Pulse oximetry

Overview

Critical congenital heart disease (CCHD) refers to a group of heart defects that are life threatening and require catheter-based intervention or heart surgery during the neonatal period. Newborns with CCHD may be missed because of minimal signs and symptoms early on, but can quickly decompensate when the ductus arteriosus, which may have been providing significant blood flow to the lungs or body, closes. Some of these newborns will have hypoxemia, which may be difficult to detect clinically in babies. Pulse oximetry can accurately identify many apparently asymptomatic cases of CCHD by detecting lower oxygen saturations. Early detection allows for timely treatment. Delayed diagnosis of CCHD may result in poorer preoperative condition, worse cardiopulmonary and neurological outcomes after treatment, or death.

The 7 primary targets for CCHD newborn screening are:
  • Truncus arteriosus
  • Transposition of the great arteries
  • Tetralogy of Fallot
  • Pulmonary atresia with intact ventricular septum
  • Tricuspid atresia
  • Hypoplastic left heart syndrome
  • Total anomalous pulmonary venous return
Screening can sometimes identify other forms of CHD, but with lower sensitivity. [Lannering: 2015] Because pulse oximetry screening detects hypoxemia (regardless of cause), a secondary benefit of screening is the detection of other underlying causes of hypoxemia, which may have adverse effects if undetected.

Incidence

Congenital heart defects occur in about 1:110 live births; CCHD occurs in 15-25% of these births.  [Hugh: 2016]

Inheritance

CCHD is an etiologically heterogeneous group of diseases. Known genetic causes may account for 20-25% of all CHDs. Genomic imbalances (chromosomal abnormalities and microdeletions/duplications) seem to account for approximately 10–15% of CCHDs. [Hugh: 2016] [Hartman: 2011] Single gene disorders (e.g., Noonan, Alagille, and CHARGE syndromes) probably account for a fraction of cases; however, recent findings using more advanced technology suggest that de novo mutations and novel copy number variants may account for additional 10-15% of incident cases. [Hugh: 2016] [Zaidi: 2013] [Al: 2014] Environmental factors, such as uncontrolled diabetes, certain viral illness, exposure to toxic agents (alcohol, drugs, chemicals) during pregnancy, and insufficient intake of folic acid may also increase the risk of the infant developing a CCHD. 

Maternal & Family History

Although recurrence risk varies among types of CCHD, approximately 1:9 cases are familial. [McSweeney: 2013] Generally, the recurrence risk increases if a parent rather than a sibling is affected, particularly when the affected parent is the mother. Individualized recurrence risks can be generated for members of families affected by CHD after obtaining a detailed family history, including accurate cardiac diagnoses for all affected members, and diagnostic genetic testing where indicated. 

Prenatal Testing

Expanded recommendations for prenatal screening of fetal hearts and evolution in fetal echocardiography have helped increase early detection of CCHD, but the prenatal rate of detection is still under 50%. [Quartermain: 2015] [Liberman: 2014]

Other Testing

Testing for noncardiac causes of hypoxemia (e.g., infectious or pulmonary disease) are appropriate.

Clinical Characteristics

Presentation of CCHD can be sudden and catastrophic. Timing often corresponds with the closing of the ductus arteriosus and physiologic changes in the heart after birth. Signs and symptoms of CCHD in infants can be varied and may include: 
  • Cyanosis (a bluish tint to the skin, lips, and fingernails)
  • Shock
  • Severe hypoxemia
  • Absent pulses
  • Tachypnea
  • Pulmonary edema
  • Shortness of breath or troubled breathing
  • Sweating around the head
  • Poor weight gain
  • Tiring easily during feedings
These findings are not always evident before hospital discharge, especially if discharge occurs before 48 hours of life. A number of children with CCHD are so severely compromised at presentation that they die before surgical intervention. A pediatric cardiologist should be consulted urgently when CHD is suspected in neonates who present with shock, cyanosis, or pulmonary edema.

Follow-up Testing after Positive Screen

In most states, if either the preductal or postductal pulse oximetry reading is <90%, the result is considered a fail. [Matthew: 2016] If either reading is ≥95% and the difference between the 2 readings is ≤3%, the result is considered a pass. [Matthew: 2016] Results outside of these 2 ranges require repeat testing in 1 hour for up to 2 additional tests. A child who has not passed the screening by the third testing is considered to have failed. [Matthew: 2016]

Primary Care Management

Upon Notification of the + Screen

  • Examine the infant to make sure the baby is hemodynamically stable. Any signs or symptoms of compromise or cardiac failure should prompt rapid evaluation and care including potential urgent transfer to a center with advanced care capabilities. 
  • Evaluate the infant for cardiac and non-cardiac causes of hypoxemia. A positive screen does not always mean the baby has CCHD, and further testing may be needed if other clinical problems are obvious.
  • If no other cause for hypoxemia is obvious, a cardiologist or neonatologist should be consulted and an echocardiogram should be performed as indicated clinically or by local protocol.
  • Depending on timing and the nursery/hospital, the family of the newborn may be aware of the screening result and pediatric cardiology may already be involved. Contact the family to provide support and coordination of care as needed.

If the Diagnosis is Confirmed

  • If CCHD is identified on echocardiography, urgent consultation with a pediatric cardiologist and/or transfer to a medical facility with pediatric cardiology expertise is warranted.

Specialty Care Collaboration

Refer to a pediatric cardiologist, if not already initiated, and a pediatric geneticist for initial consultation and ongoing collaboration. The pediatric geneticist can help with genetic counseling for the family and ruling out inherited disorders associated with CCHD (Pediatric Cardiology (see UT providers [6]) and Pediatric Genetics (see UT providers [6])).

Resources

Information & Support

For Professionals

Newborn Screening for CCHD: Information & Resources for Clinicians (AAP)
Clinical guidance provided in a question and answer format; American Academy of Pediatrics.

Heart Defects - Information for Clinicians (CDC)
Contains a screening algorithm, current research summaries, and information about specific heart defects; Centers for Disease Control and Prevention.

Utah Newborn Screening Program (UDOH)
Provides information about the program, related legislation, training for practices, and newborn conditions; Utah Department of Health.

Pulse Oximetry Screening for CCHD (University of Wisconsin) (PDF Document 19.3 MB)
Focuses on helpful information for screening programs that includes screening recommendations, types of CCHD identified by pulse oximetry, an algorithm for response to positive screen, and a sample screening form.

For Parents and Patients

Support

Mended Hearts/Mended Little Hearts
Support for children with congenital heart defects and their families. There are 80 chapters in the US and Mexico.

Intermountain Healing Hearts
A non-profit, volunteer-run organization providing support for children with cardiac disease and their families throughout the Intermountain West; also offers events, information.

Kids with Heart
Provides surgical care packages, local support group meetings, parent matching, and other support services for families affected by congenital heart defects.

Little Hearts
Emotional support, education, resources, and parent networking for families affected by congenital heart defects.

General

Baby's First Test: Critical Congenital Heart Disease (Genetic Alliance)
Information about early signs, follow-up testing, treatment, causes, accessing care, and expected outcomes. Provides links to support services; supported by the U.S. Department of Health and Human Services.

Critical Congenital Heart Disease - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.

Critical Congenital Heart Disease (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

Newborn Screening for CCHD: Fact Sheet for Families (UDOH) (PDF Document 111 KB)
Family education about pulse oximetry screening and warning signs of CCHD.

Congenital Heart Defects (AHA)
Diagnosis and care information, printable information sheets, and resources for specific congenital heart defects; American Heart Association.

Tools

ACT Sheet for Critical Congenital Heart Disease (ACMG) (PDF Document 881 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical Genetics.

Services for Patients & Families in Utah (UT)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

Critical Congenital Heart Disease (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Helpful Articles

PubMed search for CCHD, last 3 years.

Mahle WT, Newburger JW, Matherne GP, Smith FC, Hoke TR, Koppel R, Gidding SS, Beekman RH 3rd, Grosse SD.
Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the American Heart Association and American Academy of Pediatrics.
Circulation. 2009;120(5):447-58. PubMed abstract

Matthew E. Oster, Susan W. Aucott, Jill Glidewell, Jesse Hackell, Lazaros Kochilas, Gerard R. Martin, Julia Phillippi, Nelangi M. Pinto, Annamarie Saarinen, Marci Sontag, Alex R. Kemper.
Lessons Learned From Newborn Screening for Critical Congenital Heart Defects.
Pediatrics. 2016;137(5). / Full Text

Garg LF, Van Naarden Braun K, Knapp MM, Anderson TM, Koppel RI, Hirsch D, Beres LM, Sweatlock J, Olney RS, Glidewell J, Hinton CF, Kemper AR.
Results from the New Jersey statewide critical congenital heart defects screening program.
Pediatrics. 2013;132(2):e314-23. PubMed abstract / Full Text

Kemper AR, Mahle WT, Martin GR, Cooley WC, Kumar P, Morrow WR, Kelm K, Pearson GD, Glidewell J, Grosse SD, Howell RR.
Strategies for implementing screening for critical congenital heart disease.
Pediatrics. 2011;128(5):e1259-67. PubMed abstract / Full Text

Authors & Reviewers

Initial publication: May 2016; last update/revision: September 2016
Current Authors and Reviewers:
Authors: Nelangi M. Pinto, MD
Lorenzo D. Botto, MD

Page Bibliography

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, et al.
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet. 2014;94(4):574-85. PubMed abstract / Full Text

Hartman RJ, Rasmussen SA, Botto LD, Riehle-Colarusso T, Martin CL, Cragan JD, Shin M, Correa A.
The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.
Pediatr Cardiol. 2011;32(8):1147-57. PubMed abstract

Hugh A.
Moss & Adams’ Heart Disease in Infants, Children, and Adolescents, Including the Fetus and Young Adult.
9 ed. Philadelphia, PA: Lippincott Williams & Wilkins, a Wolters Kluwer business; 2016. 9781496300249 http://www.lww.com/Product/9781496300249

Lannering K, Bartos M, Mellander M.
Late Diagnosis of Coarctation Despite Prenatal Ultrasound and Postnatal Pulse Oximetry.
Pediatrics. 2015;136(2):e406-12. PubMed abstract

Liberman RF, Getz KD, Lin AE, Higgins CA, Sekhavat S, Markenson GR, Anderka M.
Delayed diagnosis of critical congenital heart defects: trends and associated factors.
Pediatrics. 2014;134(2):e373-81. PubMed abstract

Matthew E. Oster, Susan W. Aucott, Jill Glidewell, Jesse Hackell, Lazaros Kochilas, Gerard R. Martin, Julia Phillippi, Nelangi M. Pinto, Annamarie Saarinen, Marci Sontag, Alex R. Kemper.
Lessons Learned From Newborn Screening for Critical Congenital Heart Defects.
Pediatrics. 2016;137(5). / Full Text

McSweeney ME, Jiang H, Deutsch AJ, Atmadja M, Lightdale JR.
Long-term outcomes of infants and children undergoing percutaneous endoscopy gastrostomy tube placement.
J Pediatr Gastroenterol Nutr. 2013;57(5):663-7. PubMed abstract

Quartermain MD, Pasquali SK, Hill KD, Goldberg DJ, Huhta JC, Jacobs JP, Jacobs ML, Kim S, Ungerleider RM.
Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants.
Pediatrics. 2015;136(2):e378-85. PubMed abstract / Full Text

Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, et al.
De novo mutations in histone-modifying genes in congenital heart disease.
Nature. 2013;498(7453):220-3. PubMed abstract / Full Text