Hereditary Cardiomyopathies: When Feelings of Guilt Take Over

Receiving a diagnosis of hereditary heart disease can be a time of great emotional and psychological impact. These diseases, which include genetic conditions such as cardiomyopathies and inherited arrhythmias, not only pose physical health challenges but can also generate feelings of personal fault (to have the disease) and of reproductive fault (for fear of transmitting it to children). These feelings profoundly affect the quality of life and decisions related to parenthood. Understanding and dealing with these emotions is essential to living serenely and making conscious choices

What Are Hereditary Heart Diseases?

Hereditary heart diseases, as many of you know, are conditions caused by genetic mutations that can be passed from parents to children. These include:

• Cardiomyopathies: Diseases that affect the heart muscle and reduce the heart's ability to pump blood. They can cause heart failure, fatigue, arrhythmias, and in some cases, fortunately rare, sudden cardiac arrest or require a heart transplant.
• Hereditary arrhythmias: Diseases that can cause arrhythmias (heart rhythm disturbances) and increase the risk of sudden cardiac arrest. Common examples include, for example, Brugada syndrome and long QT syndrome.

These conditions are often discovered at a young age or during family screenings after a relative has been diagnosed. For those who suffer from them, concerns extend beyond physical health to emotional well-being and perceived responsibility toward family members.

A recent study published in the Journal of the American Heart Association, analyzed the emotional impact of inherited heart disease on 128 patients, with an average age of 51. About 54% were women, and most had been diagnosed with cardiomyopathy (66%). The study focused on two forms of guilt:

1. Staff: Seventeen percent of participants reported feeling guilty about having the disease. This feeling was more common among people with inherited arrhythmias than among those with cardiomyopathies.
2. Reproductive: About 34% of “probands”—those who were the first in their family to be diagnosed—reported guilt about passing the disease on to their children. This was significantly higher among those who had inherited the condition from other family members.

The study also highlighted that:

• Il 90% of the participants rated their quality of life as “good” or “excellent,” demonstrating that, despite guilt, many manage to lead satisfying lives.
• Among people of reproductive age (< 45 years), the 24% have decided not to have children to avoid transmitting the disease. This figure was particularly high among probands (35%) compared to those who had inherited the condition (7,7%)

Understanding Guilt

If linked to a hereditary disease it can manifest itself in different forms:

1. Personal Blame:

1. • What does it mean? This type of guilt comes from the perception of responsibility for having the disease. Some patients feel “defective” or fear being a burden to their family.
   • Who suffers the most? Probands tend to experience greater personal guilt. Without a family member from whom they inherited the condition, they may feel a greater sense of isolation and responsibility.
   • Because it's important? Personal guilt is often associated with a more negative perception of one's illness. The study found that those who experience this type of guilt report lower levels of quality of life.

2. Reproductive Fault:

1. • What does it mean? Reproductive guilt is the feeling of responsibility for the risk of transmitting the disease to your children. This can lead to feelings of anxiety, fear, and even the decision not to have children.
   • Who suffers the most? Again, probands report higher levels of reproductive guilt than those who know they have inherited the condition. Being the first case in the family may lead to a greater sense of responsibility for future generations.

The Impact on Reproductive Decisions

The possibility of passing on a hereditary disease is a legitimate concern for many people. The study showed that reproductive guilt can lead some people to avoid parenthood.

• Among those who decided not to have children, the majority did so to reduce genetic risk.
• However, genetic counseling and reproductive technologies can offer alternative solutions, such as preimplantation genetic diagnosis, which allows the identification and implantation of embryos free of the mutation associated with the disease.

How to Deal with Guilt and Make Informed Decisions

Here are some key strategies for managing guilt and improving emotional well-being:

1. Genetic counseling:
   A genetic counselor can explain the causes of the disease, emphasizing that it is due to genetic mutations outside of personal control. This can reduce the sense of responsibility. In addition, counseling can inform about options to reduce genetic risk in children, such as the use of preimplantation diagnosis.
2. Psychological support:
   Talking to a counselor or therapist can help you process feelings of guilt and deal with anxiety related to your illness. This support is especially helpful for those who feel isolated or overwhelmed by emotions.
3. Open communication:
   Sharing your feelings with your partner, family, friends, or other patients who have dealt with the problem can provide comfort and a sense of connection. Talking openly about your concerns can help reduce emotional isolation.
4. Explore reproductive options:
   Preimplantation genetic diagnosis and other advanced reproductive technologies can help those who want to have children do so with greater peace of mind. Discussing these options with an expert can open up new possibilities and reduce uncertainty.

Living with an inherited heart disease doesn’t mean you have to give up a full and satisfying life. With the right emotional and medical support, you can overcome feelings of guilt, make informed choices, and build a life that reflects your values.

Remember that if you are facing these challenges, AICARM offers dedicated psychological services with which you can talk and dissect everything that is currently making you anxious.

References:

Smith E, Krishnamoorthy D, Burke-Martindale C, Weissler-Snir A. Guilt and Reproductive Decision-Making in Patients With Inherited Cardiac Diseases. J Am Heart Assoc. 2024 Apr 16;13(8):e032696.