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Abstract Cardiomyopathies are the most common heritable heart diseases in cats and humans. This study aimed to identify novel genetic variants in cats with hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM) using a targeted panel of genes associated with human cardiomyopathy. Cats were phenotyped for HCM/RCM by echocardiography or port-mortem examination. DNA was extracted from residual blood, and targeted next-generation sequencing was performed on two separate feline cohorts: an across-breed cohort (23 healthy cats and 21 HCM-affected pedigree or Domestic Shorthair cats), and a within-breed cohort of Birman pedigree cats (14-healthy, 8 HCM-affected, and 6 RCM-affected). Genome analysis toolkit for best practice was used for variant discovery. Genomic association analyses (including the covariates breed, age and sex) were conducted to identify genetic variants of interest. We identified genetic variants associated with HCM and RCM susceptibility in candidate genes based on the human literature. Novel variants of interest were identified in the sarcomeric genes ACTC1, ACTN2, MYH7, TNNT2 and the non-sarcomeric gene CSRP3. The Birman pedigree breed demonstrated shared genetic variants across the HCM and RCM phenotypes, suggesting that the same variants could be associated with both HCM and RCM phenotypes, as proposed in humans.
Raffle et al. (Thu,) studied this question.