The PLN mutation is an inherited defect that can lead to a disease – cardiomyopathy. If you are a carrier of the PLN mutation, there is a 50% chance that you will pass the mutation to the unborn child. This can be through either the father or the mother. Through prenatal array testing (amniocentesis or chorionic villus testing), it is possible to detect or rule out carrier of the PLN mutation in the unborn child.
An option for the prevention of PLN in children is an In Vitro Fertilization (IVF) procedure in combination with a Preimplantation Genetic Test (PGT). In IVF, fertilization takes place outside the body. After successful fertilization the embryo is returned to the uterus. Through PGT, it is checked whether there is a specific genetic defect, such as the PLN mutation, in the embryo. Only if it is not present, the embryo is transferred into the mother’s uterus1.
IVF can be a long and intensive process for both parents, both emotionally and hormonally, and because of the ethical issues. This procedure is only performed at Maastricht UMC. Officially, PLN is not on the list of indicated conditions to be considered for the IVF/PGT trajectory. The possibilities for an IVF/PGT procedure can be discussed with a gynecologist or clinical geneticist2.
Some hospitals have specially formulated protocols around childbirth for PLN mutation carriers or patients. An example of this is the entire delivery being monitored via cardiac surveillance. During and/or before pregnancy, it is therefore important to discuss the process of delivery with the cardiologist and obstetrician.
If the child is (possibly) a carrier of the PLN mutation, there is a chance that the child will develop PLN cardiomyopathy in later (adult) life, with heart failure and arrhythmias being prominent. Several screening protocols have been developed in which carriers are examined once in a while. You can read more about these different options at PLN and getting children tested.
2 https://www.erfelijkheid.nl/kinderwens/pgt-voor-wie-en-waar ; https://www.pgtnederland.nl/)
The PLN mutation is an inherited disorder. This means that you don’t just catch the disease, but are born with it. If you are a carrier of the PLN mutation, you have a 50% chance of passing it on to your children. If your child is a carrier of the PLN mutation, there is a chance that your child will develop PLN cardiomyopathy later in life, with heart failure and arrhythmia being prominent. To prevent these complications from going undetected, predictive DNA testing can be performed or you can have your child examined annually by the cardiologist.
It is possible to have DNA testing done when your child is about 10 years old, but it can also be done earlier, for example, if your child wants to play sports at a high level or if people in your family have had symptoms at a very young age. Of course, you should think carefully about whether to test your child or not. This is a personal choice that you can discuss with your peers.
A screening protocol has also been developed for those who do not wish to have their child tested. Screening means that a (potential) carrier is examined once a year by the cardiologist. This examination is possible for children between 10 and 18 years of age and can therefore be performed without knowing for sure whether your child has the PLN mutation. In this case, your child will not know if he/she is a carrier of the PLN mutation, but your child’s heart health will be closely monitored.
It is not mandatory to get yourself tested for the PLN mutation, even after you receive a family letter. Each hospital has its own procedures for this, but as an individual you will always be left with a choice between testing and screening.
If you would rather not know yet whether you are a carrier or not, you can choose the screening option. This means that you will have an annual check-up with a cardiologist. As soon as any abnormalities are seen, a DNA test can still be performed. The cardiologist will then refer you to a clinical geneticist who specializes in determining hereditary diseases such as the PLN mutation.
A genetic (blood) test involves having a DNA test done, after which you can be diagnosed as a carrier of the PLN mutation or not. The result may give you more certainty for the future, for example towards a pregnancy. However, it can also be stressful, as not much is yet known about the course of the disease and how severe an individual carrier’s symptoms become.
It can be very difficult for a person to decide whether they want to get themselves tested. There are therefore possibilities to get psychological help with this. After the genetic test, this can be done through the specialized social worker at the Genetics Department of the hospital where you were tested. If you choose to have your annual check-up with the cardiologist, or if you would like to see a psychologist on your own initiative, you can ask your family doctor for a referral.
Not sure what the right choice is for you and do you need contact with fellow sufferers? Then you can join the Facebook community of the PLN Foundation or ask if you can get in touch with the volunteers by sending an email to firstname.lastname@example.org.
The symptoms due to the PLN mutation cannot always be seen by the outside world and it is therefore difficult for outsiders to understand exactly what PLN is. Because of this, some people will not understand why you cannot go to a birthday party, play sports or do your daily job. This is very difficult. The website of the PLN Foundation and the animation can help you with this. The website explains a lot about the PLN mutation. It may also be helpful to share the animation about the PLN mutation with colleagues, so they can understand the impact the PLN mutation has on your life.
The development of heart muscle disease due to the PLN mutation varies greatly among carriers. Whereas one carrier may develop no symptoms at all, another may experience severe symptoms at a young age or die suddenly from the effects of the PLN mutation. However, it is often the case that carriers who experience symptoms gradually deteriorate in heart function, whether or not in combination with arrhythmia. It is currently difficult to say exactly what percentage of carriers develop symptoms, as not all carriers are known. At the moment it is estimated that about half of the carriers develop symptoms. More research is needed to give an exact answer.
Symptoms due to the PLN mutation include heart failure and arrhythmia. The cardiac arrhythmia associated with the PLN mutation causes severe symptoms and can be life-threatening.