Critical congenital heart disease

Common Name(s)

Critical congenital heart disease, Congenital heart defects

Critical congenital heart diseases (CCHD) are a group of severe forms of congenital heart defects (CHD). CCHD happens when a baby’s heart does not develop normally before birth. Although it is rare, affecting only 2-3 of every 10,000 babies born, CCHD can quickly lead to serious illness and death in the first few days of life. Sometimes, CCHD may be found early in pregnancy by a special ultrasound, but many babies are diagnosed after they are born. Symptoms may include being very sleepy, poor feeding, pounding heart, weak pulse and bluish skin color. However, many babies appear healthy until they become critically ill.

CCHD may be genetic or environmental. If the cause is genetic, it may be due to a mutation (change) to a gene or genes that affect how the heart is formed. Changes in the gene(s) mean one or more proteins needed for the heart to develop will be missing or not working correctly. CCHD may sometimes be part of a syndrome with other birth defects. Environmental causes of CCHD include an infection during the pregnancy or certain medication taken by the mother during pregnancy.

A newborn baby can be tested for CCHD using pulse oximetry. This kind of test measures the level of oxygen in a baby’s blood, which helps determine how well the heart is functioning. CCHD will be confirmed by special tests such as an echocardiogram. Treatment may include surgery to fix any structural problems in the heart. The heart may be needed to be checked throughout adult life. Many babies are screened for CCHD at birth, but the newborn screening conditions vary by state. For more information, visit Baby’s First Test.. If your baby is diagnosed with CCHD, talk with your baby’s heart specialist about the most current treatment options. Genetic counselors and support groups are also good sources of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Critical congenital heart disease" for support, advocacy or research.

Logo
Congenital Heart Information Network

C.H.I.N. is a national organization that provides reliable information, advocacy, support services, financial assistance and resources to families of children with congenital heart defects and acquired heart disease, and adults with congenital heart defects.

Last Updated: 6 Apr 2015

View Details
Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

Last Updated: 4 May 2015

View Details
Logo
Mended Hearts, Inc.

Our mission is dedicated to “Inspiring hope and improving the quality of life for heart patients and their families through ongoing peer-to-peer support”.

Last Updated: 11 Mar 2013

View Details
Saving Little Hearts

Saving Little Hearts is dedicated to helping children with congenital heart defects and their families by providing emotional assistance and educational information primarily through the distribution of Care Packages.

Last Updated: 15 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Critical congenital heart disease" for support, advocacy or research.

Logo
Congenital Heart Information Network

C.H.I.N. is a national organization that provides reliable information, advocacy, support services, financial assistance and resources to families of children with congenital heart defects and acquired heart disease, and adults with congenital heart defects.

http://tchin.org

Last Updated: 6 Apr 2015

View Details
Kids with Heart National Association for Children's Heart Disorders

Our organization was formed in 1985 with the main mission of providing support, information, resources, and education for the families of the children living with congenital heart defects and to promote public awareness of the issues that these families live with on a day to day basis.

http://www.kidswithheart.org

Last Updated: 4 May 2015

View Details
Logo
Mended Hearts, Inc.

Our mission is dedicated to “Inspiring hope and improving the quality of life for heart patients and their families through ongoing peer-to-peer support”.

http://www.mendedhearts.org

Last Updated: 11 Mar 2013

View Details
Saving Little Hearts

Saving Little Hearts is dedicated to helping children with congenital heart defects and their families by providing emotional assistance and educational information primarily through the distribution of Care Packages.

http://www.savinglittlehearts.com

Last Updated: 15 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Critical congenital heart disease" returned 24 free, full-text research articles on human participants. First 3 results:

Cardiology patient page. Screening for critical congenital heart disease in newborns.
 

Author(s): John Gordon Harold

Journal: Circulation. 2014 Aug;130(9):e79-81.

 

Last Updated: 26 Aug 2014

Go To URL
Age at referral and mortality from critical congenital heart disease.
 

Author(s): David E Fixler, Ping Xu, Wendy N Nembhard, Mary K Ethen, Mark A Canfield

Journal: Pediatrics. 2014 Jul;134(1):e98-105.

 

Newborn pulse oximetry screening is recommended to promote early referral of neonates with critical congenital heart disease (CCHD) and reduce mortality; however, the impact of late referral on mortality is not well defined. The purpose of this population-based study was to describe ...

Last Updated: 2 Jul 2014

Go To URL
Feasibility of critical congenital heart disease newborn screening at moderate altitude.
 

Author(s): Jason Wright, Mary Kohn, Susan Niermeyer, Christopher M Rausch

Journal: Pediatrics. 2014 Mar;133(3):e561-9.

 

Consensus guidelines have recommended newborn pulse oximetry screening for critical congenital heart disease (CCHD). Given that newborn oxygen saturations are generally lower at higher altitudes, the American Academy of Pediatrics and others recommend additional evaluation of the ...

Last Updated: 3 Mar 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Critical congenital heart disease" returned 1 free, full-text review articles on human participants. First 3 results:

Implementing recommended screening for critical congenital heart disease.
 

Author(s): Gerard R Martin, Robert H Beekman, Elizabeth Bradshaw Mikula, James Fasules, Lorraine F Garg, Alex R Kemper, W Robert Morrow, Gail D Pearson, William T Mahle

Journal: Pediatrics. 2013 Jul;132(1):e185-92.

 

Critical congenital heart disease (CCHD) is endorsed by the US Secretary of Health and Human Services as part of the recommended uniform screening panel for newborns. Although initial recommendations for implementation exist, as states and hospitals have moved forward with implementation ...

Last Updated: 3 Jul 2013

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

The Impact of Implementing a Universal Newborn Screening for Critical Congenital Heart Disease
 

Status: Recruiting

Condition Summary: Congenital Heart Disease

 

Last Updated: 20 Feb 2015

Go to URL
Leuven Growing Into Deficit Follow-up Study
 

Status: Recruiting

Condition Summary: Heart Defects, Congenital; Critical Illness; Mental Processes; Child

 

Last Updated: 5 Feb 2014

Go to URL
Open Lung Strategy in Critically Ill Morbid Obese Patients
 

Status: Not yet recruiting

Condition Summary: Obesity; Respiratory Insufficiency; Right-Sided Heart Failure; Pulmonary Atelectasis; Respiratory Mechanics

 

Last Updated: 10 Aug 2015

Go to URL