The Genetics of Inherited Cardiac Conditions: New Expert Consensus

Take Home Messages
  • Inherited cardiac conditions are diseases with a genetic component. Identifying causative genetic variants can be complex
  • A recent multinational Expert Consensus Statement on genetic testing for cardiac disease has been published (2022)
  • This statement provides clear guidelines on when and how to perform genetic testing for each condition
  • Patients must be counselled appropriately regarding the implications of genetic testing

Inherited cardiac conditions are diseases affecting the heart that are caused by genetic mutations. These divide broadly into two types: monogenic (or Mendelian) disorders and polygenic (or disorders with complex inheritance) (Table 1) (1, 2). More than 7000 genetic mutations causing disease have been identified (2). Though initially genetic testing was limited to single-gene testing, diagnostic yields have significantly improved with the advent of whole-exome sequencing and whole-genome sequencing (3, 4).

Despite these advances genetic testing remains complex. In Mendelian disorders, penetrance of the gene varies by individual and there is often heterogenous disease progression. Additionally, inappropriate testing can lead to over interpretation and false positives. In disorders of complex inheritance where many different genetic variants collectively produce a disease phenotype, genetic testing is generally not clinically applicable (1).

This editorial serves as a brief refresher on the use of genetic testing in inherited cardiac conditions, and provides an overview of the new 2022 Expert Consensus Statement for genetic testing for cardiac conditions compiled by the European Heart Rhythm Association (EHRA), Heart Rhythm Society (HRS), Asia Pacific Heart Rhythm Society (APHRS) and Latin American Heart Rhythm Society (LAHRS).