PLN Factsheet
Who?
PLN Genetic Heart Disease Foundation is a charitable organization established to put an end to this life-threatening PLN heart disease. Almost all PLN patients are descendants from a Dutch ancestor. The Netherlands currently has the largest PLN cardiomyopathy patient population (about 1.000 patients identified and thousands still unidentified), but families with PLN cardiomyopathy have now been identified also in other countries.
Around the world, there are thousands of people with this PLN gene mutation. However, the mutation is relatively new and therefore a lot is still unknown about it. This also means it is too late for some to get medical treatment. With your help, our Foundation is able to conduct research on a remedy and to make the PLN heart disease widely known to potential patients that carry the disease so that we can save more people’s lives.
WHAT?
The PLN R14del mutation is a genetic disorder causing a myocardial heart disease (cardiomyopathy) whereby the heart muscle may widen and is unable to pump properly. This mainly concerns the left ventricle but often also the right one where a lot of connective heart tissue is present. A typical PLN characteristic is that many life-threatening heart rythm problems are occurring in people carrying this gene mutation.
HOW?
The PLN mutation is a inherited genetic disease and is therefore passed on from generation to generation. This mutation inherits autosomal dominant: if someone has the PLN predisposition, it means that this person has a 50% chance to pass on this heart disease to each of his/her children. The predisposition appears equally often in men and women. The PLN mutation has only been known since the year 2010.
URGENCY?
PLN is life-threatening… carrying the PLN gene is comparable to a time bomb: it may suddenly reveal itself and lead to premature death. Our Foundation is established by people suffering from PLN, family members and their loved ones, with the objective to eliminate PLN worldwide! In order to realize this objective, we need your donation, so that we can have more research projects conducted and are able to find a remedy against this deadly genetic heart disease.
WHY?
There has probably been a Dutch ancestor approximately 700 years ago who was suffering from this PLN gene mutation and all patients today are his/her descendants.
CONSEQUENCES?
The PLN mutation has been associated with the occurrence of myocardial heart disease and heart failure.
Previous examination among a group of 51 patients suffering from a myocardial heart disease shows that for 47% of these patients an arrhythmia occurred which led to a shock of an internal defibrillator (ICD) to repair the normal heart rhythm (1). A heart transplant was performed for 18% of this patient group and 36% of the patients had a closely related family member who suddenly died before reaching the age of 50 as a result of cardiac arrest.
Another study among a group of 403 persons carrying the PLN mutation showed that the risk of dying is much larger compared to the general population, especially in the age category 20 to 25 (2). In a subgroup of 295 persons who had undergone an examination with a cardiologist, a life-threatening arrhythmia occurred in 19% of the persons and serious heart failure in 11% of the persons during a period of 42 months.
(Left) ECG of a healthy heart; (right) ECG of a heart with myocardial heart disease.
AND YOU?
There are many ways you can help eliminate PLN: a periodic or one-time donation, a sponsoring activity or dedicate a bequest/inheritance to a life-extending research method for PLN gene carriers. We pay for all the expenses that are incurred for this. The work is voluntarily, meaning 100% of the collected money will be used for PLN patients related research projects.
Please contact our PLN Foundation if you have any questions.
(1) Van der Zwaag PA, van Rijsingen IA, Asimaki A, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail. 2012;14:1199–207.
(2) Van Rijsingen IA, van der Zwaag PA, Groeneweg JA, Nannenberg EA, Jongbloed JD, Zwinderman AH, Pinto YM, Dit Deprez RH, Post JG, Tan HL, de Boer RA, Hauer RN, Christiaans I, van den Berg MP, van Tintelen JP, Wilde AA. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet. 2014 Aug;7(4):455-65. doi: 10.1161/CIRCGENETICS.113.000374. Epub 2014 Jun 8.
Contributors to this Fact sheet: Pieter Doevendans – UMCU The Netherlands | Stefan Koudstaal – UMCU The Netherlands | Folkert Asselbergs – UMCU The Netherlands | Hamid El Azzouzi – UMCU The Netherlands | Peter van Tintelen – UMCU The Netherlands | Arthur Wilde – Amsterdam UMC The Netherlands.