In order to make our heart beat, calcium ions that flow in and out of the myocardial cells, are very important.
Heart disease is caused by a loss of cardiomyocytes (heart muscle cells), usually because of a heart attack or weakening of the cardiac muscle cells. Heart contractions and the ability to pump blood through our bodies depend on well orchestrated calcium movements in and out of the cell. The PLN (phospholamban) gene is a key regulator of the pump that controls calcium cycling. Scientific names for this PLN gene mutation are c.40_42del AGA and p.Arg14del.
Because of this genetic predisposition, the PLN protein which is read from the DNA, is no longer able to function normally. Below the ECG of a heart with a poor pump function:
Living with a PLN gene?
Mutations in this PLN gene result in enlargement and thickening of heart muscle tissue and arrhythmias, leading to symptoms that include difficulty with breathing, chest pain and fatigue.
PLN cardiomyopathy is a genetic disease with an early onset of symptoms that can lead to sudden premature death. Current therapies, such as lifestyle changes, modern drugs and implanted devices (pacemaker, ICD or “Implantable Cardioverter Defibrillator”) only alleviate symptoms and prevent the disease from becoming worse. Heart transplant, while not considered a cure, is a life-saving treatment for end-stage heart failure.
Catching the disease early
Like most inherited heart diseases, the PLN gene mutation itself is rare. As an inherited mutation, PLN cardiomyopathy is known to be common in certain families. Therefore, individuals can be diagnosed and treated early, even before experiencing any symptoms.
Patients already exhibiting disease symptoms, can undergo specific testing for particular disease indications. And, finally, genetic testing of family members of someone with the mutation can become routine care. PLN carriers have a 50% chance of passing this defect onto their children.
Once upon a time 700 years ago…
PLN-associated heart disease (specifically, cardiomyopathy) can be almost completely linked to a Dutch ancestor who lived some 700 years ago.
Almost all PLN patients are descendants from this one person, and families with PLN cardiomyopathy have now been identified in other countries, such as the USA, South Africa, Greece, Poland, Germany, Belgium, Spain and Canada.