Hearing the words “your child has a heart problem” is beyond terrifying. No matter your place on the CHD journey, support is out there.
You are not alone.
Congenital Heart Defect (also called congenital heart disease, congenital heart malformations or CHD) is a group of more than thirty-five disorders in which the structure of the heart is impaired, restricting normal blood circulation.
Congenital heart defects are the most common type of birth defect and Ventricular Septal Defects are the most common type of congenital heart defects. Congenital Heart Disease is the major cause of death (except prematurity) in the first year of life. Nearly twice as many children die from Congenital Heart Defects in the United States each year as from all forms of childhood cancers combined.
Traditionally, CHD has been divided into cyanotic defects ("blue babies") and acyanotic defects, but because many babies with acyanotic heart defects turn cyanotic, it's less useful as a clinical diagnosis.
Read more about acyanotic heart defects.
Read more about cyanotic heart defects.
Causes of Congenital Heart Defects:
The cause for 90% of babies with CHD is unknown. Most congenital heart defects are thought to have a multi-factoral inheritance or a complex interaction of environmental and genetic factors.
Risk Factors for Congenital Heart Disease:
There are certain risk factors associated with increased incidence of CHD:
- Maternal Factors
- Genetic Predisposition
- Chromosomal Abnormalities
Maternal Factors That Can Increase Incidence of CHD:
- Maternal Diabetes
- Poorly controlled phenylketonuria (PKU)
- Alcohol use
- Exposure to environmental toxins
- Exposure to infections
Genetic Predisposition To Congenital Heart Defects:
- Family history - especially first-degree (parent or sibling) relative - of CHD
- Family history of CHD is more common with left-sided obstructive lesions.
Chromosomal Abnormalities Associated With Congenital Heart Defects:
- Down Syndrome (Trisomy 21)
- Holt-Oram Syndrome
Classification of Congenital Heart Defects:
- Hypoplasia: underdevelopment of the left or right ventricle, leaving one side of the heart to circulate blood. This is the most serious - and rarest - type of congenital heart defect. Examples include hypoplastic left heart syndrome, hypoplastic right heart syndrome, as well as a patent ductus artereosis.
- Cyanotic Defects: ("blue" babies): a greyish blue skin discoloration from lack of oxygen. Includes tricuspid atresia, transposition of the great vessels, and tetralogy of Fallot.
- Septal Defects: a defect in the wall of the heart that separates the left heart from the right heart (the septum), thereby allowing blood to flow through the left heart to the right, which reduces the heart's efficiency. Ventricular Septal Defects are the most common type of congenital heart defects.
- Obstructive Defects: heart valves, veins, or arteries are blocked or narrowed, causing hypertension and cardiomegaly (enlarged heart). Includes: subaortic stenosis, coarction of the aorta, bicuspid aortic valve stenosis.
Signs of Congenital Heart Defects:
Alert your doctor immediately if you suspect your child has a congenital heart defect. Possible signs and symptoms include:
- Cyanotic (blue-tinged) lips, tongue and nailbeds.
- Decreased pulse oximeter readings due to less oxygen in the blood.
- Poor appetite.
- Difficulty feeding.
- Increased respiration rate.
- Difficulty breathing.
- Failure to thrive (weight loss, or failure to gain weight).
- Sweating, especially with feeding.
- Diminished strength of pulse.
- Abnormal heart murmur.
Diagnosing Congenital Heart Defects:
Alert your child's pediatrician immediately if you suspect your child has a congenital heart defect. You should be referred to a pediatric cardiologist for follow-up; pediatric cardiologists should manage CHD.
Many of the congenital heart defects are apparent and serious enough to be diagnosed and treated at birth. Some heart defects can be detected in utero through a level II ultrasound.
Tests Used To Diagnose Heart Defects:
- Echocardiogram: a special ultrasound that uses sound waves to obtain images of the heart.
- Electrocardiogram: measures heart rate patterns.
- Chest X-Ray
Treatment for Congenital Heart Disease:
Treatment for CHD will depend entirely upon the type of defect, the child's health, age, and size. Your child's physician will determine what course of treatment is right for your child.
Lifelong medications can be prescribed to manage symptoms, and may include diuretics, vasodilators, cardiac glycosides, prostaglandins (or prostaglandin inhibitors), and antiarrhythmics.
The physician may perform a heart catheterization to diagnose the defect and/or treat it. More serious cases may require surgery to repair the structural defect.
Related CHD Resource Pages on Band Back Together
Transposition of the Great Arteries
Related Heart Health Pages on Band Back Together
Related Resources for Parents, Families, and Friends on Band Back Together
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Pediatric Intensive Care Unit (PICU)
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How To Help A Friend With A Chronic Illness
How To Help A Parent Of A Special Needs Child
How To Help Someone Who Has Lost A Child
Congenital Heart Defect Support Resources (Support Groups):
Mended Little Hearts - support program for parents of children with heart defects and heart disease.
It's My Heart - non-profit organization that provides support to, and advocates for, those affected by Acquired and Congenital Heart Defects.
Congenital Hearth Information Network provides support, information, and resources.
Several regional groups exist as well. If you'd like help finding a regional group in your area or connecting online through Facebook to other CHD families, feel free to email Heart Mom Kristine Brite McCormick at kristine@corasstory.org
Adult Congenital Heart Resources:
Adult Congenital Heart Association - a non-profit organization dedicated to improving the quality of life for and extending the lives of adults living with congenital heart defects (CHD).
Congenital Heart Defect Researchers:
Chloe Duyck Memorial Foundation - raises awareness and promotes research of congenital heart disease.
Children's Heart Foundation - funding the most promising research to advance the diagnosis, treatment and prevention of congenital heart defects.
Saving Tiny Hearts Foundation - raising seed money for grossly under-funded, lifesaving grass roots research of congenital heart defects (CHDs)
Other Congenital Heart Defect Resources:
Saving Little Hearts - helps children with congenital heart defects and their families by providing emotional assistance and educational information primarily through the distribution of Care Packages.
International Congenital Heart Foundation - they bring the skills, technology and knowledge to cure and care for children with congenital heart disease to developing countries. ICHF does this regardless of country of origin, race, religion or gender.
Preemptive Love - aimed at eradicating backlog of Iraqi children in need of heart surgery in the name of peace between two communities at odds.
