Document: European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS)
Expert Consensus Statement on the state of genetic testing for cardiac diseases

Europace (2022) 24, 1307-1367. Translated by Arthur Wilde.

In the last three decades it has become increasingly clear that genetics play a very important role in a variety of diseases of the heart. Indeed, in the early nineties of the previous century the first genes underlying specific cardiac diseases were discovered and the years thereafter many more genes, often for the same conditions, were identified. In addition, it also became clear that for some conditions with more complex inheritance patterns are pertinent.

With the discovery of different genes underlying the same conditions it appeared that decisions regarding (future) therapy were influenced by the gene responsible for the disease (i.e. gene-specific treatment). Also, the future risk of developing the disease or specific symptoms (not rarely the risk of sudden death) appeared to be dependent on the underlying gene defect. This knowledge, in addition to the technical developments regarding genetic testing, has led to increasing availability of more comprehensive genetic testing. And after a genetic variant has been found in an affected person, so-called ‘presymptomatic screening’ of his or her family members has also become popular even if they are free of symptoms. By detecting carriers of the gene variant in the family, individuals at risk can be identified and followed up appropriately.
And with the genetic substrate available within affected families, targeted screening, before family members develop symptoms, directed towards the identified variant causing the disease, has also become popular.

This consensus document reviews the state of genetic testing in 2022, and addresses the questions of what tests to perform and when to perform them. Hence, for every inherited heart condition, specific details are given on who to test (i.e. which criteria are needed before a patient should be tested for a specific diagnosis), which genes to screen and when (for example from which age onward). The document also includes a section on when and how to perform genetic testing after sudden cardiac death and, for the first time, a section on genetic testing in congenital heart disease. The document was written by international experts, including doctors and scientists, in the fields, and was endorsed by the major professional societies from around the world, spanning Europe, North and South America and Asia).

The main recommendations include an emphasis on appropriate genetic counseling prior to every genetic test, working in a specialized multidisciplinary team with involvement of geneticists and (pediatric) cardiologists, and on targeted, rather than random, genetic screening. It is also made very clear that in the case of potentially lethal and treatable conditions such as catecholaminergic polymorphic ventricular tachycardia (CPVT) or long QT syndrome (LQTS), it is the responsibility of the physician, in conjunction with an expert genetics team, to communicate to the patient/family the critical importance of family screening, encompassing both clinical testing (i.e. ECG, exercise-ECG, echo, etc), and predictive genetic testing. The ultimate goal of this document is to help guide clinicians on the effective use of genetic testing to improve the diagnosis and care of patients, and their families, with inherited heart diseases.

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