January, 2020
Dear persons of Dutch descent,
This letter is to inform you about a recently discovered serious genetic heart disease, called PLN, that mainly affects people of Dutch descent.
The PLN (p.Arg14del) disease is a heart muscle disease caused by a genetic mutation in the DNA and can be traced back to about the year 1382 and a person of the Frisian Nobility. Of the about 1,100 patients identified so far, most of them live in The Netherlands but more and more patients are being identified in traditional emigration countries like the USA and Canada. Since this disease was only discovered in 2010, still thousands of patients have not yet been identified, including possibly hundreds in North America. Currently several new patients are being discovered weekly.
PLN cardiomyopathy is a genetic disease, causing heart disease (cardiomyopathy) whereby the heart muscle may widen and is unable to pump properly which most often leads to severe heart failure and can also cause sudden premature death, also in younger persons. The PLN mutation is an inherited genetic disease and is therefore passed on with a 50% chance to the carrier’s children.
Current therapies, such as lifestyle changes, modern drugs and implanted devices (pacemaker, ICD or “Implantable Cardioverter Defibrillator”) alleviate symptoms, help prevent sudden death episodes and may prevent the disease from becoming worse. Heart transplantation, while not considered a cure, is a life-saving treatment for end-stage heart failure. In The Netherlands about 25% of heart transplants performed yearly are now already PLN related.
The PLN Foundation was founded in 2012 by patients and family members affected by
the negative consequences of this PLN gene mutation. The goal is to ultimately find a treatment for this life-threatening disease and educate patients and their families. If your family is affected by PLN it is important to be seeking medical supervision to determine the status and initiate possible treatments.
Even though this PLN mutation is considered a Dutch disease, due to its origin, a number of research innovations took place in the USA, which can be used to help find a cure for PLN. As a result, the PLN Foundation has initiated a unique trans-Atlantic project to have the three university hospitals in The Netherlands (UMCG Groningen, UMC Utrecht and AMC Amsterdam), which treat the majority of patients, join forces with three highly recognized institutions in the USA to jointly find a treatment method. The Academic medical centers in the USA are Mount Sinai Hospital New York, Stanford University, California and the University of Cincinnati College of Medicine.
A family history of heart failure, cardiomyopathy or possible sudden death occasions might be a situation that will need further attention and possible action. A good start would be to visit the English website of the PLN Foundation to familiarize yourself with detailed information about PLN. The website address is: www.plnheart.org (This is a recently new launched website that will be completed in the next weeks) The odds are higher if your ancestors came from the northern part of The Netherlands.
The next step might be a visit with a cardiologist for further testing. Your cardiologist may not be familiar with this disease and PLN is difficult to identify if you don’t know what to look for either on a heart electrocardiogram or in blood testing, even for an experienced cardiologist. If you inform your cardiologist about PLN (p.Arg14del) he or she will be able to not only find sufficient reference data on-line in medical databases as well as be able to locate proper contact information with colleagues in The Netherlands, that can assist in any way possible.
PLN carriers have two stages of PLN activity. If you carry the gene since birth it starts as an inactive gene, meaning there are no direct negative consequences. However, at some point (mostly after the age of about 20-25 years) the gene can become active and from then on have consequences that can vary in impact. When becoming active it can result in enlargement/widening of the heart muscle and in arrhythmias, leading to symptoms that include difficulty with breathing, chest pain and fatigue. In some cases, it can result in sudden death.
At this moment we do not know which factors causes the gene to activate but unhealthy life style factors might contribute as well as early indications that excessive exercise can have an impact as well. Further research to identify factors that contribute to disease development is actively being pursuit.
Since we have recently identified about 50 PLN patients in North America, we are planning a PLN patient event on May 2, 2020 at the Johns Hopkins Medical Center in Baltimore. If you are interested in attending, we would love to hear from you by contacting us through the contact form on our website.
Also, if you or family members have questions or would like assistance regarding PLN related issues please feel free to contact us through our website and we will assist you in any way possible. Obviously, we will respect your privacy. Please also share this important information with other family members, friends and acquaintances of Dutch descent as this can help save lives.
Obviously if in your family there is no history of heart failure, cardiomyopathy or sudden death, chances are that there is no need to worry about PLN. Even with heart failure it does not necessarily mean that it is PLN related but it is advisable to be tested. A specific blood test is sufficient to determine if PLN is present.
Our PLN Foundation is doing everything possible to find a cure for this disease ASAP. However, to accomplish this will take time, lots of money and many research projects. But we are certain that we will be able to cure this disease in the near future!!
We hope that as many families as possible are not affected by this disease but if your family is affected, be assured that our PLN Foundation is here to assist where needed and do not hesitate to contact us.
Sincerely,
Evert de Boer
Board Member PLN Foundation