CARDIAC MUSCLE DISEASE
Phospholamban Cardiomyopathy (PLN, or the c.40_42del gene mutation) is a genetic heart muscle disease that can cause life-threatening cardiac arrhythmias. There are 2 types of gene mutations: gene carriers can have the DCM variant (Dilated Cardiomyopathy) or the ACM one (Arrhythmogenic Cardiomyopathy).
years ago, the PLN
gene mutation started in Friesland (North Netherland)
Possible signs and symptoms of PLN are:
Shortness of breath, problems by exercise and reduced endurance
Heart palpitations and chest pain
Cardiac arrhythmia: severe arrhythmia can sometimes cause dizziness, fainting and even sudden cardiac death
In the course of life
This cardiac muscle disease can develop slowly throughout life, usually in adulthood but sometimes from the age of 10 years. The symptoms vary from gene carrier to gene carrier: some may experience severe heart problems (heart failure) while others have no symptoms at all. In case of symptoms, it is important to discuss this with your GP so that a cardiovascular examination can be carried out.
ACCORDING TO SIGNS AND SYMPTOMS
Depending on symptoms, adequate medication can be prescribed.
ICD / Pacemaker
If there is a risk of dangerous cardiac arrhythmia, an ICD can be implemented.
In very severe cases, a VAD and/or heart transplant can be necessary.
PLN patients should strongly avoid intensive exercise (peak) and Top-Class sport.
An ultrasound of the heart provides a clear image and sound of the function and shape of the heart muscle and valves.
The MRI examination, which generates radio wave (magnetic) signals, provides a clear picture of the heart (chambers).
In an electrocardiogram, the electrical signals of the heartbeats are properly recorded and can be analyzed.
• Cardiovascular examination may also include a Holter monitor test and/or an exercise test/cycle test.
Discuss it with your GP or cardiologist
If you’re experiencing some signs and symptoms, or if other family members have been found to have a predisposition for the genetic heart disease PLN, please discuss it with your GP/cardiologist so that additional cardiovascular examination can be assessed.