By Ernst Lamothe Jr
Congenital heart disease encompasses a range of structural heart abnormalities present at birth. These defects can affect the heart’s walls, valves and blood vessels, leading to improper blood flow and circulation.
CHD is one of the most common congenital conditions, impacting individuals across all demographics and often requiring lifelong management.
Advances in medical technology and surgical techniques have significantly improved survival rates and quality of life for those affected, but challenges remain in diagnosis, treatment and support.
Understanding CHD is crucial for raising awareness, improving outcomes and fostering empathy for those living with this condition.
“Raising awareness about congenital heart disease is crucial for several reasons. It helps in early identification and treatment, reduces stigma and fosters support networks for families affected by CHD,” said cardiologist Thomas Grady, who practices at Oswego Health. “Increased awareness can also lead to better funding for research, improved healthcare policies and resources for those living with CHD.”
Grady discusses five aspects of CHD.
1 — How common is it?
Congenital heart disease is one of the most prevalent birth defects, affecting approximately 1 in 100 to 1 in 200 live births globally. This means that around 40,000 babies are born with CHD each year in the United States alone.
“It is not uncommon that you know right away when it comes to heart diseases when the mother is having her baby,” said Grady. “As technology has gotten better, more congenital heart disease patients are surviving into adulthood and their life expectancy is normal.”
Physicians work with pediatric cardiologists to collaborate with options throughout their adulthood so they can monitor the situation and watch out for any additional signs.
2 — What are the symptoms?
Symptoms of CHD can vary widely depending on the specific type and severity of the defect. Common symptoms may include rapid or difficulty breathing, a bluish tint to the skin, lips or fingernails, fatigue or weakness, poor feeding or growth in infants and swelling in the legs, abdomen or eyes. Some individuals may be asymptomatic, particularly in cases of mild defects.
“When we see shortness of breath that can tell us many aspects of whether your blood is not working properly and if the heart valve is not developing. It can affect the baby’s development and weight gain,” said Grady. “We also tell patients that if you have a history of passing out unexpectedly, there could be a correlation with the rhythm of your heart.”
3 — What are the causes and treatment options?
The exact causes of congenital heart disease are often unknown, but several factors may contribute, including genetic predispositions and environmental influences. Some CHD cases are associated with specific genetic syndromes, while others may be linked to maternal health factors such as diabetes, certain medications or infections during pregnancy.
“We use tools such as physical exams, EKG, ultrasounds of the heart and CT imaging to determine issues where we can determine if an infant has a genetic disease such as Down syndrome,” he added.
4 — Family history
There can be a family history component to congenital heart disease. Having a family member with CHD may increase the risk of CHD in other family members. Genetic counseling is often recommended for families with a history of heart defects, as certain genetic conditions can be inherited.
“Many genetic defects are passed through chromosomes from first degree relatives,” said Grady. “That is why it is essential to receive a detailed family history from our patients because we have to unlock what could be serious underlying conditions.”
5 — It’s manageable
Not all cases of congenital heart disease are severe and many individuals with CHD lead healthy, active lives, especially those with milder forms of the disease. In addition, while CHD is present at birth, many individuals live into adulthood and may experience health issues later in life.
“I have also heard from patients who worry if congenital heart disease is the result of something done wrong during the pregnancy, which is not the case,” he said. “Whenever someone gets diagnosed, we work with the parents to put together a plan.”