Last Monday, the Dutch documentary ‘Aan het Hart’ premiered on NPO2 telling the story of various families with hereditary heart disease due to the PLN-gene which was discovered in the Netherlands in 2010. The documentary focuses on family members and their experiences surrounding their familial condition and their considerations around genetic testing. Part of the documentary takes place inside Amsterdam UMC, location AMC where Arthur Wilde and other AMC colleagues can be seen consulting one of the patients. The AMC has published quite a lot on this condition together with other University Medical Centres (UMCG, UMCU in particular). The documentary is available to watch at NPOstart (in Dutch) and 2Doc also has an interview with the director of ‘Aan het Hart’ (in Dutch).
The PLN mutation (PLN p.Arg14del / c.40_42del AGA) leads to the absence of arginine at position 14 resulting in an improper function of the PLN protein which plays an important role in calcium balance of cardiac muscle cells. More information on PLN can be found on the website of the PLN Foundation.