For carriers

As a foundation, we consider it extremely important to make information about PLN available in an accessible and straightforward manner. This supports our mission: to increase awareness about the genetic heart muscle disease PLN. Therefore, we strive to provide as much relevant information as possible for carriers.

Symptoms

One reason to get tested for the PLN mutation might be experiencing various symptoms. There are different symptoms associated with PLN, but they vary from person to person, so you may not necessarily experience them.

  • Heart Rhythm Disorders
  • Palpitations
  • Shortness of breath
  • (Severe) fatigue
  • Chest pain
  • Reduced endurance
  • Sudden cardiac arrest

Testing

If you want to get tested, you can request a referral from your general practitioner for a clinical genetic consultation The clinical genetics departments of academic hospitals all offer telephone consultations and blood sampling in a regional hospital. The costs for the informative consultation at the outpatient clinic and the possible DNA diagnostics are generally covered by the basic health insurance (with some exceptions for certain budget insurance policies).

You can check this in your insurance documents or inquire with your insurance company. The amount you may still have to pay yourself depends on your own risk deductible and whether you have already used a part of it. The decision whether or not to get tested is a personal and sometimes difficult choice. For some people, it may be a natural decision, while for others, it can be confronting and frightening.

As a foundation, we consider testing to be very important. This is because you might be a carrier without experiencing any symptoms yet. If you test positive, you will be placed under the care of a cardiologist, who will monitor your heart closely. Additionally, we actively support various research efforts, which may lead to finding a treatment for PLN. This treatment method is now truly within reach!

There are many questions regarding whether or not to get tested. Documentary maker Mirjam Bartelsman made an impressive documentary about this: “Aan het hart” (To the Heart). You can watch the documentary online via NPO Gemist.

Questions about Testing

It is advisable to get tested if there is a reasonable chance that you are a carrier of the PLN mutation. This is the case if the PLN mutation or heart failure at a young age (<50 years) occurs in your family or if your cardiologist suspects that you may be a carrier of the PLN mutation.

If you do not experience any symptoms, the cardiologist will ask you to come in for regular check-ups (e.g., once a year or every two years). If you develop any symptoms, the cardiologist will work with you to determine the best treatment plan for your specific condition and symptoms. The cardiologist will regularly check whether your symptoms remain stable or change.

If the test shows that you have the PLN mutation, it is possible that your siblings, parents, uncles, aunts, nephews, or nieces also carry this gene. Additionally, you have a 50% chance of passing on this gene to your children. The clinical geneticist will talk to you about the implications for your family members after the test results and will assess how they can best be supported.

It is also possible that you do not want to get tested. In this case, you can choose to remain under the care of a cardiologist. The cardiologist will then monitor whether your heart remains healthy.

We understand that some medical terms may be unclear. Therefore, we have created an overview of the most important and well-known medical terms, including their meanings. Click here for more information.

If the test shows that you have the PLN mutation, it is possible that your siblings, parents, uncles, aunts, nephews, or nieces also carry this gene. Additionally, you have a 50% chance of passing on this gene to your children. The clinical geneticist will talk to you about the implications for your family members after the test results and will assess how they can best be supported.

It is also possible that you do not want to get tested. In this case, you can choose to remain under the care of a cardiologist. The cardiologist will then monitor whether your heart remains healthy.

Diagnosis & Disease Progression

The PLN mutation is hereditary. This means that a carrier of the PLN mutation has a 50% chance of passing it on to his or her child. If you have multiple family members such as siblings, uncles, or aunts who have heart problems, such as heart failure or rhythm disorders (at a young age), it is important to investigate whether they are carriers of the hereditary heart condition. This can be done through a genetic test performed by a clinical geneticist.

Being informed by a specialist that you are a carrier of the PLN mutation can cause concern. PLN has an unpredictable course, making the future uncertain. It can also be distressing for family members as a genetic predisposition has been identified in your family, which increases the risk of heart problems. Therefore, after the diagnosis, you will receive a family letter. It is important to try to inform other family members with this letter so that they can also choose to be tested for the PLN mutation, if they wish to do so. Each hospital has its own procedures, but no one is obligated to undergo testing. If you are not ready to know whether or not you are a carrier, you can decide to have yearly check-ups with a cardiologist. If abnormalities are found, you can still choose to have a DNA test done. There is still much unknown information. Therefore, it is unclear whether there is a connection between the severity of symptoms in family members and your own symptoms. Unfortunately, it is not possible to predict the severity of symptoms in an individual carrier.

The course of the disease varies greatly from person to person, but in general, symptoms of the disease develop from the age of 40. However, it is possible to develop symptoms at a young age or not experience any symptoms at all. Symptoms include heart failure and arrhythmias, but the severity of your symptoms can also vary widely. Therefore, it is not possible to predict how the disease will progress in a specific case.

It is not precisely known what percentage of carriers of the PLN mutation develop symptoms. This is mainly because not all carriers are known. Currently, it is estimated that about half of the carriers develop symptoms. More research is needed to provide an exact answer to this question.

Treatment

Currently, the PLN mutation cannot be cured. Therefore, the goal of the PLN Foundation is to find a curative treatment as soon as possible. The symptoms of the PLN mutation (heart failure and arrhythmias) can be treated, but this is only aimed at preventing severe symptoms and does not contribute to curing the disease. For now, the PLN mutation is only treated symptomatically.

Below is an overview of the various treatment options for the PLN mutation. The different treatment options depend on the severity and progression of the disease:

  • Medication
    Medication is often prescribed to reduce symptoms associated with the PLN mutation. The type of medication prescribed will be determined by the cardiologist.
  • ICD (Implantable Cardioverter Defibrillator):
    If your cardiologist sees a reason for it, you may receive an ICD (Implantable Cardioverter Defibrillator). This may be because abnormalities are seen in your electrocardiogram (ECG), your heart rhythm is disrupted, or your cardiac pump function is significantly reduced. Due to the higher risk of cardiac arrest in carriers of the PLN mutation, the implantation of an ICD is often considered earlier.
  • LVAD (Left Ventricular Assist Device)/Heart Assist Device:
    As a carrier of the PLN mutation, you may be eligible for a heart assist device such as an LVAD. An LVAD is a mechanical pump that supports or takes over the function of the heart. Whether and when you receive an LVAD depends on the pump function of your heart. More information about an LVAD can be found on the website of the Heart Foundation.
  • Heart Transplantation:
    In some cases, a heart transplantation is performed, which means your heart is replaced with a donor heart. This is a major procedure and you will only be considered for a heart transplant if no other treatment options are available. After passing a health assessment, you can be placed on the waiting list for a donor heart. During the waiting period, you may be eligible for an LVAD. More information about heart transplantation can be found on the website of the Heart Foundation.

A more affordable treatment for PLN is now truly on the horizon, but it is still uncertain when this mission will become a reality. The PLN Foundation aims to find a medication against the PLN mutation as soon as possible and finances a lot of research to achieve this.

Questions about Treatments

There are several healthcare providers who can help you as a carrier of the PLN mutation. We have created a PDF document about healthcare providers and what they can do for you.

If it is determined through genetic testing that you are a carrier of the PLN mutation, you can receive support from the specialized social workers at the Department of Genetics of the hospital where you were examined. If they cannot provide sufficient help, it is possible to be referred to a psychologist.

Sometimes, this may not be what you are looking for, and you may prefer more personal contact with fellow carriers. In that case, you can join the Facebook Community of the PLN Foundation (Dutch) or ask if you can get in touch with volunteers by sending an email to info@plnheart.org.

If the test shows that you have the PLN mutation, it is possible that your siblings, parents, uncles, aunts, nephews, or nieces also carry this gene. Additionally, you have a 50% chance of passing on this gene to your children. The clinical geneticist will talk to you about the implications for your family members after the test results and will assess how they can best be supported.

It is also possible that you do not want to get tested. In this case, you can choose to remain under the care of a cardiologist. The cardiologist will then monitor whether your heart remains healthy.

The cardiologist and the clinical geneticist specialize in two different fields, each having knowledge about a different aspect of the PLN mutation.

The cardiologist specializes in diagnosing and treating heart diseases, such as cardiomyopathy, which is the disease caused by the PLN mutation. Therefore, you have consultations with the cardiologist to assess the progression of the disease and discuss possible treatments.

The clinical geneticist specializes in diagnosing hereditary diseases, such as the PLN mutation. Therefore, you have consultations with the clinical geneticist to confirm the presence of the PLN mutation and assess whether other family members might also be carriers of the mutation.

If the test shows that you have the PLN mutation, it is possible that your siblings, parents, uncles, aunts, nephews, or nieces also carry this gene. Additionally, you have a 50% chance of passing on this gene to your children. The clinical geneticist will talk to you about the implications for your family members after the test results and will assess how they can best be supported.

It is also possible that you do not want to get tested. In this case, you can choose to remain under the care of a cardiologist. The cardiologist will then monitor whether your heart remains healthy.

Most carriers of the PLN mutation in the Netherlands are being treated or monitored at the University Medical Center Groningen (UMCG), Amsterdam UMC (AMC), or University Medical Center Utrecht (UMCU). In these hospitals, cardiologists are specialized in treating many patients with the PLN mutation, and therefore, they have a lot of experience.

The cardiologist specializes in diagnosing and treating heart diseases, such as cardiomyopathy, which is the disease caused by the PLN mutation. Therefore, you have consultations with the cardiologist to assess the progression of the disease and discuss possible treatments.

The clinical geneticist specializes in diagnosing hereditary diseases, such as the PLN mutation. Therefore, you have consultations with the clinical geneticist to confirm the presence of the PLN mutation and assess whether other family members might also be carriers of the mutation.

If the test shows that you have the PLN mutation, it is possible that your siblings, parents, uncles, aunts, nephews, or nieces also carry this gene. Additionally, you have a 50% chance of passing on this gene to your children. The clinical geneticist will talk to you about the implications for your family members after the test results and will assess how they can best be supported.

It is also possible that you do not want to get tested. In this case, you can choose to remain under the care of a cardiologist. The cardiologist will then monitor whether your heart remains healthy.

You receive an ICD (Implantable Cardioverter Defibrillator) if your cardiologist sees a reason for it. This may be because abnormalities are seen in your electrocardiogram (ECG), your heart rhythm is disrupted, or your cardiac pump function is significantly reduced. Due to the higher risk of cardiac arrest in carriers of the PLN mutation, the implantation of an ICD is often considered earlier.

The cardiologist specializes in diagnosing and treating heart diseases, such as cardiomyopathy, which is the disease caused by the PLN mutation. Therefore, you have consultations with the cardiologist to assess the progression of the disease and discuss possible treatments.

The clinical geneticist specializes in diagnosing hereditary diseases, such as the PLN mutation. Therefore, you have consultations with the clinical geneticist to confirm the presence of the PLN mutation and assess whether other family members might also be carriers of the mutation.

If the test shows that you have the PLN mutation, it is possible that your siblings, parents, uncles, aunts, nephews, or nieces also carry this gene. Additionally, you have a 50% chance of passing on this gene to your children. The clinical geneticist will talk to you about the implications for your family members after the test results and will assess how they can best be supported.

It is also possible that you do not want to get tested. In this case, you can choose to remain under the care of a cardiologist. The cardiologist will then monitor whether your heart remains healthy.

Know more about…

If you are already ill, it is important to be clear with the people around you. For example, do not hesitate to say no if you do not feel well enough. As a PLN mutation carrier, you may feel very good one day but very bad the next. Therefore, try to make your appointments on a conditional basis and do not make too many commitments. This is also important for your employer to know.

If you are not ill, you can do everything in principle, but always listen carefully to your own body and do not exceed your limits. Additionally, it is important to discuss your physical activities with your cardiologist. The cardiologist can help you make choices or refer you for heart rehabilitation.

Currently, there is no information available about specific diets for carriers of the PLN mutation. Therefore, it is best to follow the advice of the Heart Foundation and the Nutrition Center.

At the Department of Genetics of the hospital, you can get more information and assistance if you have difficulty sharing the news that you are a carrier of PLN. The specialized social worker can provide you with good advice, but delivering the message can still be difficult. Do not be discouraged by this, as your family has the right to know this information.

You will receive a family letter after the diagnosis. This letter invites the rest of the family to also be tested for the PLN mutation. Each hospital has its own procedures, but no one is obliged to undergo testing. If you are not ready to know whether you are a carrier or not, you can decide to have regular check-ups with the cardiologist. If abnormalities are found, you can still opt for DNA testing later on.
Unfortunately, there is still a lot of unknown information. Therefore, it is unclear whether there is a correlation between the severity of symptoms in family members and your own symptoms. It is unfortunate that it is not possible to predict how severe the symptoms will be in an individual carrier.

The belief that you cannot take out a mortgage or life insurance with an hereditary disease is a misconception and a persistent untruth. Above a certain threshold, insurance companies may ask about (the predisposition to) severe untreatable hereditary conditions. This is also known as the questioning limit. Since January 1, 2022, the questioning limit for life insurance is €294,803 (this amount can be raised every year) in the Netherlands. If you apply for an insurance or mortgage above this limit, a medical form needs to be completed, but you still cannot be rejected just because you are a carrier of the PLN mutation. If you encounter any problems in this regard, your clinical geneticist can provide assistance. It is important to know that a conversation with the clinical geneticist will never have consequences for your mortgage or insurance.

In 2021, drs. Matthijs Timmermans from the Association of Insurers provided detailed explanations about applying for insurance when you have PLN. You can watch it here:

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Unfortunately, if you are a carrier of the PLN mutation, there is a 50% chance of passing the mutation to your child. Testing during pregnancy (amniocentesis or chorionic villus sampling) can determine whether the unborn child is a carrier of the PLN mutation or not (prenatal array testing).

Some PLN mutation carriers have undergone an IVF (in vitro fertilization) procedure. If you are looking for information about this, it may help to get in touch with other PLN carriers who have done the same. This can be done, for example, through the Facebook Community of the PLN Foundation or by asking volunteers to connect via info@plnheart.org.

Unfortunately, there is still a lot of unknown information about the specific impact of the PLN mutation on pregnancy. Therefore, if you have a desire to have children, it is advisable to consult with your cardiologist. Together, you can discuss whether pregnancy is advisable

Pregnancy places more strain on your cardiovascular system, which may accelerate the disease symptoms of hereditary heart muscle diseases such as the PLN mutation. Therefore, it is important to remain under the care of your cardiologist during pregnancy, so that the treatment can be adjusted to minimize risks for both the mother and the child. Pregnancy in carriers without symptoms usually goes well.

However, this can vary from person to person. Therefore, it is essential to discuss this process thoroughly with your cardiologist and midwife so that you are well prepared for childbirth. Some hospitals have special protocols for childbirth for PLN mutation carriers or patients. You can inquire about this with your cardiologist.

If your child (possibly) carries the PLN mutation, there is a chance that your child may develop PLN cardiomyopathy at a later age, with heart failure and arrhythmias being prominent. To prevent these complications from developing unnoticed, a screening protocol has been developed, in which carriers are examined periodically. Of course, you must carefully consider whether you want to have your child tested or not. This is a personal choice that you can also discuss with fellow carriers.