While heart disease is often associated with adults who either have family history or lifestyle issues that have affected their heart health, each year 40,000 infants in the United States — or 1 in 100 children — are born with congenital heart defects (CHD), problems with the heart’s structure or the way it works that are present at birth, which can result in related lifelong care. CHD is the most common infant birth defect and is the leading cause of death due to birth defects for children.
Given the prevalence and serious nature of CHD, Washington Family spoke with Christopher Jordan, M.D., outpatient medical director for Children’s Cardiology at Inova Children’s Hospital and Inova Heart and Vascular Institute in Fairfax, Virginia. Here is what parents need to know.
What is CHD?
Congenital heart defects are problems with the heart’s structure or the way it works that are present at birth. CHD occurs during heart development before the baby is born, with the cause either variable or not able to be determined. A small percentage of babies born with CHD do have a genetic condition, and sometimes a baby develops its own genetic variation that causes the CHD. Additionally, approximately 50% of babies with trisomy 21 (also known as Down syndrome) are born with a congenital heart defect. All babies with trisomy 21 need fetal or postnatal echocardiograms in early infancy. If the echocardiogram is normal, then the child does not have congenital heart disease and will only be followed by the cardiologist as needed for other issues. Another condition that can include CHD is DiGeorge syndrome, which is when a small part of chromosome 22 is missing.
How and when is CHD diagnosed?
Congenital heart disease forms in the first trimester of pregnancy — between six and eight weeks — when the baby’s organs are forming. Because of the high quality of and access to healthcare in the Washington, D.C. area, in our region 60% to 80% of CHD can be diagnosed prenatally, between 18 to 24 weeks, but usually at the 20-week ultrasound. Only a small number of infants are diagnosed postnatally through physical exam, echocardiogram, ECG, chest x-ray or MRI. Important for women to know is that if they have a normal heart, this rules out about 95% of potential heart problems for the baby; if the baby does have CHD, there are no symptoms for mom, there is not one single cause and it is important for parents to know that no one did anything wrong that resulted in the heart defect.
What are the different types of CHD?
There are several types of congenital heart defects that can include small holes (like atrial or ventricular septal defects); valve issues, such as narrowed or leaky valves; blood vessel problems, such as narrowing of the aorta or misplaced vessels; or more severe malformations, like missing chambers.Â
The most common types of CHD are:
- Septal defect, which is a hole between the right and left side of the heart
- Ventricular septal defect (VSD) – the most common congenital heart defect, which is a hole in the wall (septum) separating the heart’s lower chambers (ventricles)
- Atrial septal defect, a congenital “hole in the heart” located in the wall (septum) between the upper chambers (atria)
- Differences in heart valves
In addition, the most common CHD condition for newborns in the neonatal intensive care unit is patent ductus arteriosus (PDA), a heart defect in newborns where a blood vessel connecting the aorta and pulmonary artery fails to close after birth.
What are the symptoms of CHD?
For moms, there are no symptoms despite CHD often being diagnosed early in pregnancy through ultrasound. For babies born with known CHD symptoms, [symptoms] can be blue-tinted skin and breathing problems.Â
For babies not diagnosed with CHD prior to birth, the baby gets a pulse oximeter (measure of oxygen) on hand and foot 24 hours after birth. If an abnormal screening is detected, this could be a sign of CHD. If the baby is diagnosed with CHD after birth, symptoms can include bluish skin, lips or nails, difficulty breathing, rapid breathing, fatigue, poor feeding and slow growth, low energy and heart murmurs.Â
What are the treatment options for babies with CHD?
There are different treatment options dependent on the severity and type of CHD. Treatment can include medications (blood pressure, heart rate), catheter procedures (balloons to open valves), surgery, pacemakers or heart transplants for severe cases.Â
What are the short- and long-term [prognoses] for CHD?
Oftentimes, children with CHD can be treated effectively, as positive outcomes for children born with CHD have dramatically improved. However, outcomes ultimately depend on the type and severity of the CHD. With consistent heart care, many children with CHD live fully active lives and can live well into adulthood. Factors that affect outcomes include timing and type of repair, having an individual care plan and adhering to it and staying current with regular check-ups to monitor the heart and make any necessary adjustments to care and treatment. When a child needs open heart surgery, they will need lifelong cardiology follow-ups, even with medication and no restrictions.
What are important things for parents to know if their child is diagnosed with CHD?
Important to note is the parents of babies diagnosed with CHD can have some symptoms of post-traumatic stress disorder (PTSD) due to this diagnosis and impending care, so it is important for parents to know that they are not alone. There is a big community of support for patients and families dealing with a CHD diagnosis. Groups such as Mended Little Hearts, the family and patient advocacy group at Inova, their child’s entire care team and Certified Child Life Specialists at the hospital all provide a supportive, caring environment for parents, siblings and the child with CHD.
What are some of the most cutting-edge therapies for congenital heart disease and what are their impact on quality of life for these patients as children and as they grow into adulthood?
One development is the device that helps with the closure of PDA in premature babies. The outcomes are excellent. In addition, there is a rapidly growing area of cardiogenetics that is working to identify genetic causes of heart problems. Being able to provide patients with the right kind of genetic testing and treatments can potentially prevent catastrophe down the road by taking preventive measures.
Sources of further information about congenital heart defects:
- Inova Congenital Heart Defects Program
- Children’s Heart Foundation
- American Heart Association – Congenital Heart Defects
- Centers for Disease Control and Prevention – Congenital Heart Defects
