Is Brugada Syndrome Hereditary? | Inciteful Med

Yes, Brugada syndrome is hereditary. If you have Brugada syndrome, there is a chance you can pass it to your children. The condition typically follows an inheritance pattern known as autosomal dominant ^[1]. This means that you only need one copy of the altered gene to have the condition, and there is a 50% chance of passing the gene to each child you have.

However, inheriting the gene does not mean your child will necessarily develop the symptoms of Brugada syndrome. This is due to a concept called incomplete penetrance ^[1][2].

Understanding Incomplete Penetrance

Incomplete penetrance means that a person can carry the genetic mutation associated with a condition but never actually show any signs or symptoms of it ^[1][2].

Because of incomplete penetrance, a child might inherit a Brugada syndrome gene (most commonly the SCN5A gene ^[3]) from you but never experience fainting, irregular heart rhythms, or require an implantable cardioverter-defibrillator (ICD) ^[2][4]. The way the condition affects a person can vary widely even within the same family, a concept known as variable expressivity ^[2][5].

The reasons why some people with the gene develop symptoms while others do not are complex. It is believed to be influenced by a combination of factors:

• Other genetic factors: A person’s unique overall genetic makeup can influence how the primary Brugada gene behaves ^[2][6].
• Sex: Brugada syndrome symptoms and diagnostic ECG patterns are much more likely to appear in adult males than in females ^[7][8].
• Environmental triggers: Certain physiological stressors, especially a high fever, can unmask or worsen the signs of Brugada syndrome in someone who is genetically predisposed ^[9][10].

Protecting Your Family: Screening and Counseling

Because Brugada syndrome can be passed down and carries a risk of dangerous heart rhythms, it is critical to take proactive steps for your family’s health.

Genetic Counseling

If you have been diagnosed, meeting with a genetic counselor is a crucial next step ^[11][12]. A genetic counselor can:

• Explain your specific genetic test results (if you have had them).
• Provide a detailed assessment of the risk to your children and other relatives.
• Guide you through the decision-making process regarding genetic testing for your family members.

Family Screening

Medical guidelines recommend that all first-degree relatives—which includes your children, parents, and siblings—undergo clinical screening ^[11][12]. This is important even if they feel perfectly healthy, as asymptomatic carriers (people with the gene but no symptoms) still carry a risk of sudden cardiac events ^[4][13].

Screening typically involves an electrocardiogram (ECG) to look for the specific electrical patterns in the heart associated with Brugada syndrome.

• When to screen: The age at which your children should be screened can vary. Your genetic counselor or a pediatric cardiologist will help you establish the right timeline for their testing.
• What to watch for: While waiting for screening, you and your doctor can discuss specific warning signs, such as fainting during a fever, and put preventative measures in place. This includes aggressively treating fevers to bring your child’s temperature down ^[9][10] and avoiding certain medications that can trigger heart rhythm issues (your doctor will provide a specific list of drugs to avoid).