Professor Klaassen, if young, apparently healthy athletes suddenly collapse and die, could it be due to genetic heart disease?
Prof. Sabine Klaassen: These cases are very emotionally charged, and they show that serious heart conditions do not always manifest themselves beforehand. In fact, genetic heart muscle diseases or cardiac arrhythmias can be a cause of sudden death in young people, but this is not always the case. The key point is that when such events occur at a young age, especially without classic risk factors, genetic causes should always be considered. Genetics can help to better understand these diseases and identify familial risks at an early stage.
Which forms of genetic heart disease are particularly relevant?
In everyday clinical practice, we encounter many cardiovascular diseases with complex causes. However, monogenic diseases such as cardiomyopathies and arrhythmia syndromes are particularly relevant for genetic diagnostics. These include ion channel disorders, which can be associated with an increased risk of severe arrhythmias and even sudden cardiac death.
When does genetic testing make sense from a medical point of view?
This is particularly important if there is a family history of sudden death at a young age or known heart disease in close relatives. As a rule, a thorough cardiological examination is carried out first. If any abnormalities are found, targeted genetic testing can provide crucial additional information.
What specific changes does a genetic finding bring about in the treatment of patients?
Genetic testing helps us to better assess individual risk. We now know that certain genes, e.g. genetic variants in lamin A/C or filamin C in dilated cardiomyopathy, are associated with a significantly higher risk of dangerous arrhythmias than others. This information is taken into account in therapeutic decisions, such as when deciding whether preventive measures such as an implantable defibrillator are appropriate. Genetics complements clinical diagnostics, it does not replace them.
Nevertheless, genetic diagnostics is not yet established everywhere. Why is that?
One key issue is uncertainty. Many colleagues know that genetics is relevant, but are unsure about how to determine indications or interpret findings. Genetic results are complex and must be correctly classified and communicated in an understandable way. In addition, there are legal requirements, particularly in the area of genetic counselling, which require additional qualifications.
What significance will genetics have for cardiac medicine in the future?
Currently, the focus is primarily on risk assessment and prevention. In the coming years, however, genetics will also become increasingly relevant in terms of treatment. The first targeted therapies, such as myosin inhibitors for the treatment of symptomatic hypertrophic obstructive cardiomyopathy, are already available and are based on molecular mechanisms. In the long term, genetics will become an integral part of routine cardiology, embedded in a more comprehensive genomic medicine.
Prof. Dr. med. Sabine Klaassen is a paediatric cardiologist specialising in genetic heart disease. She heads a research group at the Max Delbrück Centre for Molecular Medicine (MDC) and Berlin University Hospital, where she investigates the causes, diagnosis and treatment of hereditary heart disease. These include cardiomyopathies and genetic arrhythmias, which often pose risks that are difficult to detect, especially in young people. She is co-spokesperson for the German Centre for Cardiovascular Research (DZHK) in Berlin and is involved in international guideline groups for the treatment of genetic cardiomyopathies. In addition, she is the scientific organiser of the Cardiogenetics Symposium, which addresses the use of genetic diagnostics and genomic medicine in cardiology.
Understanding genetics. Identifying risks. Targeted use of therapy.
How can genetic diagnostics be meaningfully integrated into everyday cardiology practice?
Which diseases benefit most?
And how do we deal with complex findings, legal issues and new therapeutic options?
These and other questions are the focus of the
Cardiogenetics Symposium
25. April 2026, 9 a.m. to 4 p.m. , Hotel MOA Berlin
The event is intended for doctors in private practice and clinics who wish to deepen their knowledge and better understand the role of genetics in cardiology. Further information and registration.
