Genetic testing contributes to early cardiovascular disease risk detection and more effective pharmacological treatments
Cardiovascular diseases are disorders that include coronary heart diseases, cerebrovascular diseases, rheumatic heart diseases, among others. Currently, they are one of the leading causes of death. According to the WHO, in 2016 an estimated 17.9 million people died of cardiovascular diseases, accounting for 31% of all deaths worldwide.
Over the past 15 years, molecular genetic studies have shown that genetic variations are associated to inherited arrhythmogenic disorders, in particular, channelopathies. These are caused by the inadequate movement of ions through ion channels, leading to an alteration in cardiac action potential. Variants have been described for genes that encode for functional units of ion channels associated with patients without structural cardiac alterations.
Despite the proper diagnosis and use of pharmacotherapy, it is estimated that about 40-60% of patients suffering from cardiovascular diseases are unable to experience the expected effect of prescribed medication. There is substantial interpatient variability in the response to pharmacological treatment, frequently associated with genetics, that is, genotype may influence the metabolism and sensitivity of drugs to a given prescribed treatment.
Genetic tests have risen to prominence as an important diagnostic tool that helps detect cardiovascular diseases early and that allows new therapeutic strategies for treating individuals who can present risk for fatal cardiopathies.
In light of recent genomic medicine studies, SYNLAB has an entire category of tests geared towards genetic predisposition to cardiovascular disease, including:
- Dilated Cardiomyopathy ,listed as the leading cause of cardiac insufficiency;
- Arrhythmogenic Cardiomyopathy, where ventricular fibrosis replaces myocardial tissue leading to cardiac insufficiency and even sudden death;
- Familial Hypertrophic Cardiomyopathy, considered the most common cause of sudden death;
- Long QT Syndrome, characterized by increased potentially fatal cardiac arrhythmias;
- Short QT Syndrome, characterized by paroxysmal atrial fibrillation and potentially fatal ventricular arrhythmias;
- Brugada Syndrome, which usually manifests in adulthood and is characterized by a high incidence of sudden death in patients who have structurally normal hearts;
- Catecholaminergic Polymorphic Ventricular Tachycardia, manifested as syncope or sudden cardiac death;
- Thoracic Aortic Aneurysm/Familial Aortic Dissection, a condition that poses a high risk for developing thoracic aortic aneurysms and dissections.
SYNLAB also offers, in its portfolio, exclusive pharmacogenetic panels to patients suffering from cardiovascular diseases, divided as: FG Cardio Arrythmia, FG Cardio Hypertension, FG Cardio Vascular, and FG Cardio Complete.
SYNLAB offers a full range of medical laboratory services for practising doctors, clinics and the pharmaceutical industry. The SYNLAB Group is the uncontested leader on the European market for human medicine laboratory services.