On October 1, 2024, the Dutch Association of (Bio)Medical Laboratory Staff (NVML) organized the Congress “The Beating Heart” at the Eenhoorn in Amersfoort, the Netherlands. The congress focused on the anatomy of the heart, cardiac function, possible causes of acute and chronic heart failure and related laboratory research. One of the PLN coordinators for blood collection and pre-analysis(Marianne, herself president of the NVML for many years) collaborated in the creation of the program.
After the opening of the congress, the morning was devoted, by several speakers, to the anatomy of the heart, cardiac function and the distinction between acute and chronic heart failure. In addition, developments in the field of laboratory testing for various cardiac markers, which are used for the diagnosis and follow-up of these disease states, were discussed.
When the heart suddenly stops beating….
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After lunch, congress participants were informed about research on the cause of death in (young) adults. If the heart suddenly stops beating and there is no immediately obvious cause, there is a significant chance (about 30-40%) that it is a hereditary cardiovascular disease. Therefore, DNA testing on material from the deceased is of great importance, which can already be performed from a sampling of 2 tubes of blood. If a cause is thereby found, DNA testing of family members is possible, in order to detect and treat family members with the same hereditary predisposition early which lowers their risk of disease/plot death.
Presentations on PLN
The day ended with 2 presentations centered on the genetic heart muscle disease PLN. Dr. Amin(cardiologist, Amsterdam UMC) talked about the clinical presentation, risk factors of heart failure due to PLN cardiomyopathy, findings in diagnostic (laboratory) studies and current and possible future treatments.
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Dr. Renée Maas then presented the results of her doctoral research. From blood-induced stem cells, beating heart muscle cells can be made, which are then used with advanced techniques to study various mechanisms of cardiomyopathies in the laboratory. The research contributes to insights surrounding the emergence of pathological features of the heart muscle disease PLN-R14del and the selection of therapeutic options to cure hereditary cardiomyopathies.