Patients contact

Whether you have known for some time that you are a carrier or you have just heard the diagnosis: as a PLN carrier you have a lot of concerns.  What awaits me?What are the consequences for my work? What if I have a child wish? Do I have to test my children? Information about symptoms and use of medication .. The PLN Foundation is here for you.

My name is Leo Dean Jansen.  I am a retired orthopedic surgeon who has 9 family members with the PLN heart mutation. I am a board member of the non-profit PLN Foundation in the USA.  Our foundation is active in research, fundraising, and education for the PLN heart condition. My PLN disease has progressed to the extent that I am on a heart transplant list. Other family members have exhibited different levels of symptoms.  My PLN affected mother is currently in her late eighties and has not had any major heart issues. The PLN mutation causes injury to heart muscle cells, heart scarring (fibrosis), and heart rhythm abnormalities.  My major problem is heart rhythm abnormalities. Although there are medications that can help with symptoms, no effective treatment currently exists to reverse the PLN heart condition. The PLN Foundation is very active in seeking treatment methods through many medical research initiatives worldwide. Through these projects, I am confident a cure will be found.

I would be happy to share all the information I have gathered on PLN and talk to you about your condition. In addition, we are planning on conducting various PLN information days and would like to invite you to attend. We would also like to keep you updated on our research initiatives and other events. If interested, please send me an email at dean@plnheart.org.

My name is Margriet Neervoort-Klinkert. I was born in 1958. I always thought 1958 was a good year. I grew up in Noord-Scharwoude, after which I lived in Amsterdam for 20 years. Since 1997. I live in my place of birth again with my husband and 2 children. I work as an English teacher and dean at a secondary school in Schagen.

In 1993 my oldest brother died at the age of 45. He was previously diagnosed with cardiomyopathy. He died after a failed heart transplant. In 2007 my younger sister went through an heart attack. After medical investigations, she was diagnosed with dilated cardiomyopathy and an ICD was implanted. Genetic testing was started and it turned out that my sister was a PLN gene carrier. The gene was just known. I was asked to participate in the genetic testing and I was convinced I didn’t have it. Unfortunately the reality was different.
I was gene carrier with symptoms of illness, and I did not realize it myself. This is how I ended up in the world of PLN, and with me also my husband and children. I’ve been through a lot. I know from my own experience what happens after the diagnosis and what impact it will have on yourself and your family, certainly when a child also appears to be sick.
Symptoms of illness, use of medication, consequences for work, hospital admissions, testing dilemmas, contact with medical specialists, and so on. I hope that with my own experiences I can help other people to cope better with this disease, or simply offer a listening ear. And as for my year of construction -1958- , the engine is still running, only slightly slower …
If you have a certain issue regarding the above subjects or you just want to talk, you can contact me through the PLN Foundation.

The PLN mutation is a hereditary disease and is therefore passed on from generation to generation. The mutation inherits an autosomal dominant inheritance. This means that if someone has the predisposition, they have a 50% chance of passing on the predisposition to each of their children. The predisposition occurs equally often in men and women. Probably the mutation has been able to spread in this way because it usually only manifests itself after the child’s fertile age. Most carriers have already had children before they develop any symptoms.

If you or a family member are diagnosed, you will have a lot of questions. Should I or other relatives be tested? This is a very personal choice. Some people worry about insurances or mortgages. The rules about this are different by country.

We think testing is important. Maybe you have no complaints, but if your are tested and appear to be a carrier, you can adjust your lifestyle and go regularly to the doctor for check ups. Or maybe the scientist find a treating method that needs to be started from a very early stage.

If you have any questions, please don’t hesitate to contact us!

PLN Foundation works with an enthusiastic team of volunteers. Do you also want to help us? Please contact us!

The mutation was discovered in the Netherlands in 2010 and probably originated spontaneously between 1200 and 1400, in someone in the southeast of the province Friesland. All carriers of the mutation in the Netherlands descend from this one Frisian ancestor and we are looking for our ancestor. Do you want to share your family tree with us? Please get in touch!

We are regularly asked to send information or material for school papers and school assignments. We are happy to do this! Please let us know if you want to receive information!

You are here: plnheart.org Patients contact