Genetic testing in cardiovascular diseases

Curr Opin Cardiol. 2014 May;29(3):235-40. doi: 10.1097/HCO.0000000000000055.


Purpose of review: The review is designed to outline the major developments in genetic testing in the cardiovascular arena in the past year or so. This is an exciting time in genetic testing as whole exome and whole genome approaches finally reach the clinic. These new approaches offer insight into disease causation in families in which this might previously have been inaccessible, and also bring a wide range of interpretative challenges.

Recent findings: Among the most significant recent findings has been the extent of physiologic rare coding variation in the human genome. New disease genes have been identified through whole exome studies in neonatal arrhythmia, congenital heart disease and coronary artery disease that were simply inaccessible with other techniques. This has not only shed light on the challenges of genetic testing at this scale, but has also sharply defined the limits of prior gene-panel focused testing. As novel therapies targeting specific genetic subsets of disease become available, genetic testing will become a part of routine clinical care.

Summary: The pace of change in sequencing technologies has begun to transform clinical medicine, and cardiovascular disease is no exception. The complexity of such studies emphasizes the importance of real-time communication between the genetics laboratory and genetically informed clinicians. New efforts in data and knowledge management will be central to the continued advancement of genetic testing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiovascular Diseases* / diagnosis
  • Cardiovascular Diseases* / genetics
  • Cardiovascular Diseases* / therapy
  • Cyclic GMP-Dependent Protein Kinase Type I / genetics
  • DNA-Binding Proteins / genetics
  • Disease Management
  • Exome*
  • Genetic Predisposition to Disease
  • Genetic Testing* / methods
  • Genetic Testing* / trends
  • Genetic Therapy / methods
  • Genetic Therapy / trends
  • Genome, Human*
  • Humans
  • NAV1.5 Voltage-Gated Sodium Channel / genetics
  • Smad2 Protein / genetics
  • Transcription Factors / genetics
  • Translational Research, Biomedical / organization & administration


  • DNA-Binding Proteins
  • NAV1.5 Voltage-Gated Sodium Channel
  • PRDM16 protein, human
  • Smad2 Protein
  • Transcription Factors
  • Cyclic GMP-Dependent Protein Kinase Type I
  • PRKG1 protein, human