The role of genetic studies in cardiology

Abstract

Genetic research is playing an increasingly important role in cardiology. Inherited cardiovascular diseases which include cardiomyopathies, channelopathies, and familial thoracic aorta aneurysms and dissections, are major causes of sudden death in patients under 35 years of age, while familial hypercholesterolemia (FH) is one of the leading causes of myocardial infarction before the age of 50. Genetic testing can determine the implementation of appropriate pharmacotherapy (e.g., for FH, cardiomyopathies, channelopathies), the implantation of a cardioverter-defibrillator (for channelopathies), or the timing of surgical procedures (for aortic diseases). Genetic test results are also crucial for the families of patients with hereditary cardiovascular diseases, as they allow for the identification of those at risk of sudden cardiac death. In this context, it is also important to create legal provisions for post-mortem molecular studies in patients who have died suddenly and are suspected of having a genetic etiology of the disease. The diagnosis of hereditary cardiovascular diseases requires the cooperation of a team of experts: a cardiologist, a radiologist, a clinical geneticist, and a diagnostician with the support of well-equipped laboratories. Leading role of the cardiologist is paramount in the diagnosis of cardiovascular diseases, particularly those not part of a malformation syndrome, and the cardiologist should also have the authority to decide on the necessity of genetic testing. Unfortunately, in Poland, there are still no comprehensive regulations on genetic testing that would organize the requirements for genetic diagnostics, the rights of doctors, diagnosticians, and patients.