• Pertti Jääskeläinen, Tiina Heliö, Katriina Aalto-Setälä, Maija Kaartinen, Erkki Ilveskoski, Liisa Hämäläinen, John Melin, Markku S Nieminen, Markku Laakso, Johanna Kuusisto, FinHCM study group, Helena Kervinen, Juha Mustonen, Jukka Juvonen, Mari Niemi, Paavo Uusimaa, Matti Huttunen, Matti Kotila, and Mikko Pietilä.
• Heart Center, Kuopio University Hospital, Kuopio, Finland.
• Ann. Med. 2013 Feb 1; 45 (1): 859085-90.

BackgroundHypertrophic cardiomyopathy (HCM) is predominantly caused by a large number of various mutations in the genes encoding sarcomeric proteins. However, two prevalent founder mutations for HCM in the alpha-tropomyosin (TPM1-D175N) and myosin-binding protein C (MYBPC3-Q1061X) genes have previously been identified in eastern Finland.ObjectiveTo assess the prevalence of these founder mutations in a large population of patients with HCM from all over Finland. Patients and methods. We screened for two founder mutations (TPM1-D175N and MYBPC3-Q1061X) in 306 unrelated Finnish patients with HCM from the regions covering a population of ∼4,000,000.ResultsThe TPM1-D175N mutation was found in 20 patients (6.5%) and the MYBPC3-Q1061X in 35 patients (11.4%). Altogether, the two mutations accounted for 17.9% of the HCM cases. In addition, 61 and 59 relatives of the probands were found to be carriers of TPM1-D175N and MYBPC3-Q1061X, respectively. The mutations showed regional clustering. TPM1-D175N was prevalent in central and western Finland, and MYBPC3-Q1061X in central and eastern Finland.ConclusionThe TPM1-D175N and MYBPC3-Q1061X mutations account for a substantial part of all HCM cases in the Finnish population, indicating that routine genetic screening of these mutations is warranted in Finnish patients with HCM.

23 keywords...

hide…