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Gene for cardiomyopathy can be traced back to joint Frisian ancestor

09 November 2012

Sudden death at a young age is the most dramatic result of cardiomyopathy. About half of the patients with cardiomyopathy can be shown to have a hereditary disposition in their DNA. UMCG researcher and clinical geneticist Paul van der Zwaag found an identical hereditary disposition for cardiomyopathy in over 100 families in the Netherlands. T he source of this hereditary disposition was traced back to an ancestor who lived in the east of the province of Friesland six to eight hundred years ago. Researchers from UMCG, AMC and UMCU publish their findings this week in the European Journal of Heart Failure.

Cardiomyopathy

The most common hereditary disposition for cardiomyopathy lies in a gene that plays an important role in the management of calcium in the cardiac muscle cells. The gene abnormality can lead to different types of cardiomyopathy. Some patients suffer serious heart failure and a widening of the heart muscle, while others mainly have life-threatening cardiac arrhythmias which can lead to sudden cardiac death.

Northern Netherlands

In the Netherlands, 10-15% of patients with the above mentioned types of cardiomyopathy have the related gene abnormality. It is particularly common in the northern provinces and the province of North Holland. Van der Zwaag estimates that about 1 in 1400 inhabitants of these provinces has this hereditary disposition. For the first time the cause of the gene abnormality can be traced clearly to an ancestor who must have lived in the east of Friesland.

Treatment

The discovery of this gene for cardiomyopathy means that more families with this hereditary disposition can be traced. If the gene abnormality is found, this person is given a letter to inform family members. They can then decide whether they wish to be tested for the presence of the hereditary disposition. Carriers will be regularly tested and treated at an early stage to avoid sudden death from acute heart failure.

Last modified:15 September 2017 3.28 p.m.
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