LAUSR

Whenever a patient presents with cardiomyopathy, it is important to determine the underlying cause in order to provide the best possible follow-up and treatment. Determining an underlying genetic cause of the disease is also important in order to provide family testing and follow-up of relatives at risk. Unit for Cardiac and Cardiovascular Genetics at Oslo University Hospital has been a national laboratory for genetic testing for cardiomyopathies in Norway since 2003. Data from 4408 probands and 3008 relatives were available. Three probands had two variants, nine had incidental findings of variants not related to their cardiomyopathy diagnosis. Of the remaining 4396 probands, 65.1% were male, age at genetic testing was 50.9 (±18.1) years and 6.1% were under the age of 18. A likely pathogenic or pathogenic variant (216 different variants including 67 novel) was detected in 574 probands. Of the 3008 relatives, 47.6% were male, age at genetic testing was 39.3 (±20.5) years, 17.9% were under the age of 18, and 43.2% were positive for the variant found in their family. Probands and relatives combined, 1/2809 persons in Norway were found to be heterozygous for a cardiomyopathy variant. Next Generation Sequencing provided more findings in dilated cardiomyopathy, especially in TTN. Otherwise, the majority of variants were found in the classical sarcomeric and desmosomal genes. In conclusion, genetic testing provided a genetic basis of the cardiomyopathy in 13.1% of probands, and subsequent family testing identified almost three times as many variant-positive relatives which could be offered preventive follow-up.