Peer-reviewed veterinary case report
Genetic Variant Linked to Sudden Heart Death in Young Manchester
By Furrow, Eva et al.·Published in Genes·2023·College of Veterinary Medicine, United States·View original on PubMed →
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Original publication title: AnMissense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs.
- Species:
- dog
Plain-English summary
A group of young Manchester Terrier puppies experienced sudden cardiac death due to a genetic condition called dilated cardiomyopathy (DCM). Researchers found a specific genetic variant in these puppies that was linked to their heart problems, which caused their hearts to enlarge and function poorly. This variant was not found in healthy puppies, suggesting it plays a significant role in the disease. Understanding this genetic link can help in predicting heart issues in both dogs and potentially humans.
People also search for: Manchester Terrier sudden cardiac death · puppy dilated cardiomyopathy symptoms · genetic heart problems in dogs
Abstract
Sudden cardiac death in the young (SCDY) is a devastating event that often has an underlying genetic basis. Manchester Terrier dogs offer a naturally occurring model of SCDY, with sudden death of puppies as the manifestation of an inherited dilated cardiomyopathy (DCM). We performed a genome-wide association study for SCDY/DCM in Manchester Terrier dogs and identified a susceptibility locus harboring the cardiac ATP-sensitive potassium channel gene. Sanger sequencing revealed anp.R1186Q variant present in a homozygous state in all SCDY/DCM-affected dogs (= 26). None of the controls genotyped (= 398) were homozygous for the variant, but 69 were heterozygous carriers, consistent with autosomal recessive inheritance with complete penetrance (= 4 × 10for the association of homozygosity forp.R1186Q with SCDY/DCM). This variant exists at low frequency in human populations (rs776973456) with clinical significance previously deemed uncertain. The results of this study further the evidence thatis a susceptibility gene for SCDY/DCM and highlight the potential application of dog models to predict the clinical significance of human variants.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/37239348/