Is congenital heart disease genetic?

Congenital heart disease (CHD) is one of the most common congenital anomalies that exist in newborn babies. Cardiac malformations are not only produced in experimental animal models but in humans as well. This is done by perturbing selected molecules that function in the developmental pathways involved in myocyte specification. Long story short, it is genetic, and researchers have been attempting to bridge the gap through an analysis of Congenital Heart Disease (CHD) families.

What is Congenital Heart Disease?

Congenital heart disease is caused when something disrupts the normal development of the heart. This is thought to occur during the first 6 weeks of pregnancy. This is when the heart is developing and becomes a fully formed heart. There are many things that are known to cause it, although there is not an obvious cause in each case.

Increased risks for CHD

Maternal diabetes

Women with diabetes are known to have a higher risk of giving birth to a baby with congenital heart disease. This applies to those who have type 1 or type 2 diabetes, but not those who have gestational diabetes. The reason for this is thought to be due to high levels of the hormone insulin in the blood. This can interact with the fetus.

Alcohol use

When pregnant women drink alcohol while they are pregnant, this can poison the fetus. Known as fetal alcohol syndrome, children with this disorder can have congenital heart disease, such as atrial or ventricular septal defects.


Rubella (also known as German measles) is an infectious condition caused by a virus. It is usually not serious, however, it can severely affect an unborn baby if a mother develops a rubella infection during the first 8 to 10 weeks of pregnancy. This infection can not only cause congenital heart disease but other infections as well.

Flu (influenza)

Women who get flu during the first trimester (3 months) of pregnancy are at greater risk of having a baby with congenital heart disease. The reason for this is unclear, however, still stands.


There are a few different medicines linked to an increased risk of a baby being born with congenital heart disease:

  • Anti-seizure medicines/Benzodiazepines
  • Acne medicines/isotretinoin and topical retinoids
  • Ibuprofen

Genetic conditions

Several genetic health conditions are known to cause CHD. These are those that a baby inherits from either parent. For example, down’s syndrome is the most widely-known genetic condition causing CHD. Children with Down’s syndrome are born with a range of disabilities, and CHD is one of them. In fact, about half of all children with Down’s syndrome have congenital heart disease.

Other genetic conditions associated with congenital heart disease include Turner syndrome, which is a genetic disorder that only affects females, and Noonan syndrome, which is a genetic disorder that can cause a wide range of potential symptoms.

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