Genetic variation in cardiomyopathy and cardiovascular disorders

Elizabeth M. McNally*, Megan J. Puckelwartz

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations


With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.

Original languageEnglish (US)
Pages (from-to)1409-1415
Number of pages7
JournalCirculation Journal
Issue number7
StatePublished - Jun 9 2015


  • Cardiomyopathy
  • Population studies
  • Risk prediction
  • Whole-exome sequencing
  • Whole-genome sequencing

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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