Inherited genes determine both the development and function of every organism. Consequently, pathological genes or mutations in normal genes can provide incorrect instructions to cells, potentially leading to the manifestation of a genetic disorder. Numerous cardiac diseases arise because of inherited pathological genes, making genetic testing of paramount importance. Examples of cardiovascular diseases caused by pathological genes include arrhythmias and cardiomyopathies. Genetic testing plays a crucial role in both diagnosing and subclassifying hereditary cardiovascular diseases and has become an essential component of the clinical evaluation of these patients. It can help establish an effective treatment plan, prevent sudden cardiac death, and identify potential risks for the patient’s relatives. Today, genetic cardiology is one of the fastest-growing fields, offering virtually unlimited diagnostic possibilities. In the future, therapeutic interventions targeting the patient’s DNA are also anticipated.
Genetic Causes of Arrhythmias
Genetically determined (inherited or acquired due to spontaneous mutations) cardiac arrhythmias represent a distinct category of cardiac disorders arising from alterations in the electrophysiological properties of the heart. Mutations in genes encoding specific ion channels form the basis of certain inheritable arrhythmogenic disorders that can occur in structurally normal hearts. These include Long QT Syndrome (LQTS), Short QT Syndrome (SQTS), Brugada Syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), arrhythmogenic cardiomyopathies, and other related conditions.
Genetic testing is performed in specialized laboratories using a blood sample from the patient to identify any pathogenic mutation in the genes associated with the disease. If a mutation is detected, it confirms the cause of the disorder, facilitates clinical management and therapeutic decisions, and prompts genetic screening of family members to assess their risk of developing the condition.
Genetic Causes of Cardiomyopathies
Many cardiomyopathies result from mutations in genes affecting the contractile system of cardiac muscle fibers. Specific genes have been implicated in cardiomyopathies such as dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathy. The risk associated with each type of cardiomyopathy depends on the responsible gene. Genetic testing allows for more precise classification of patients based on the pathophysiology of the identified gene mutation and facilitates risk stratification. Furthermore, it enables the identification of asymptomatic individuals who may be at increased risk of developing cardiomyopathy due to genetic mutations. Identifying the underlying genetic cause can guide decisions regarding optimal therapeutic strategies and the need for preventive screening of other family members.
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