New Research into Congenital Heart Disease Provides Treatment Hope

New research findings about the progression of congenital heart disease open the door for new treatment possibilities. Congenital heart disease refers to a spectrum of heart defects that develop before birth, ultimately leading to heart failure. It is the leading cause of childhood death.


What is Congenital Heart Disease?

A congenital heart defect (CHD) is a problem with the structure of the heart, which impacts the way a baby’s heart works. Present at birth, congenital heart defects are the most common type of birth defect. While some are mild (such as a small hole in the heart) and don’t require treatment, others are severe (such as missing or poorly formed parts of the heart) and may require several surgeries performed over a number of years. Around one in four babies born with a heart defect has a critical CHD, requiring surgery or other procedures in their first year of life.

Types of CHDs include:

  • Atrial septal defect
  • Double-outlet right ventricle
  • Atrioventricular septal defect


What Are the Signs and Symptoms of CHD?

While some defects have few or no signs, others might cause a baby to show the following symptoms:

  • Blue-tinted nails or lips
  • Breathing difficulties
  • Tiredness during feedings
  • Sleepiness

Some CHDs may be diagnosed during pregnancy using a special type of ultrasound that creates ultrasound pictures of the developing baby’s heart. However, some CHDs are not detected until after a baby is born or during childhood or even adulthood. If it’s suspected that a baby may have a CHD, tests (such as an echocardiogram) can confirm the diagnosis.


About the Research Findings

A long-standing roadblock to the development of new therapies for patients with CHDs has been a lack of knowledge about the underlying cause of declining heart function. In a search for answers, a team of researchers profiled heart and blood samples from CHD patients. The researchers studied patients with different types of CHDs.

Using new technologies – such as single-cell RNA sequencing – the researchers made progress toward developing a better understanding of congenital heart disease. This will open the door for therapies that target individual cell types and unique gene pathways in CHD.

The study’s findings provide a roadmap for developing personalized treatments for patients with congenital heart defects, while also providing the scientific community with an important resource of pediatric heart samples that can be used for future research.


What Causes CHDs?

Although the causes of most congenital heart defects are unknown, CHDs are thought to be caused by a combination of genes and other factors, including environmental factors, the mother’s diet and health condition, or the mother’s medication use during pregnancy. Some conditions – such as diabetes – have been linked to CHDs. Smoking during pregnancy and the use of certain medications have also been linked to heart defects.

Some studies have found there’s a connection between specific antihypertensive medication classes and specific CHDs. According to one study, “maternal hypertension and maternal antihypertensive use during pregnancy were associated with increased risk of CHDs.” This study found there was an increased risk for four specific types of congenital heart defects in babies whose mothers used antihypertensive medication during early or late pregnancy, or who had untreated hypertension.


How We Help Birth Defect VictimsThe attorneys of our birth defects victims’ alliance understand the pain that families face when coping with life-altering birth defects—and the frustration of knowing they could have been prevented. With over 40 years of combined experience in birth defects litigation, our team has the resources and experience to fight on behalf of our clients. Call us to see how we can help you and your family receive justice for birth defects.