Genetic diagnosis: a “powerful tool” to crack the genetic code of high-risk cardiovascular diseases
Su Guanhua, Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
With the development of social economy, the improvement of people’s living standard and the change of lifestyle, the incidence of cardiovascular disease is increasing year by year, and it has become one of the most important causes of death in China. It has been confirmed that the onset of many cardiovascular diseases is not only related to lifestyle and environmental factors, but also closely related to genetic factors (i.e. mutations or abnormalities of genes). Among them, high-risk genetic cardiovascular diseases such as cardiomyopathy, cardiac ion channel disease, and familial thoracic aortic coarctation can lead to unpredictable sudden death and are extremely dangerous. However, the early diagnosis and treatment of these diseases has been a major challenge for the medical community. With the advancement of science and technology, the development of genetic diagnosis technology has become a powerful tool to crack the genetic code of high-risk cardiovascular diseases, bringing hope for the rehabilitation of such patients. Guanhua Su, Department of Cardiovascular Medicine, Wuhan Union Medical College Hospital
What is high-risk hereditary cardiovascular disease?
High-risk hereditary cardiovascular disease is a collective term for a group of cardiovascular diseases with genetic characteristics, including cardiomyopathies, cardiac ion channel diseases and familial thoracic aortic diseases, such as hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and left ventricular densification insufficiency, as well as Brugada syndrome, long QT syndrome, short QT syndrome, catecholamine-sensitive ventricular tachycardia, Marfan syndrome, and Leuditz syndrome, which are called high-risk hereditary cardiovascular diseases because of their high rate of sudden death.
What is genetic diagnosis?
Genetic diagnosis is the use of genetic testing technology to diagnose whether a patient and his or her immediate family members carry a mutated gene that causes an inherited disease. Genetic diagnosis technology is one of the greatest inventions in preventive medicine in the 21st century. Through genetic diagnosis, diseases can be diagnosed early and clinical treatment can be guided. At present, our hospital, in cooperation with Suzhou Biomedical Innovation Center, has been able to carry out testing of nearly 80 gene mutation loci for more than 10 types of high-risk hereditary cardiovascular diseases mentioned above, and has achieved good results.
Who should have genetic diagnosis?
If there are patients with unexplained death or sudden cardiac death in the family, it is recommended that the relevant immediate family members undergo genetic diagnosis of high-risk hereditary cardiovascular diseases to assess the risk of developing similar cardiovascular diseases and to prevent and treat them early to avoid dangerous situations. If a patient is highly suspected of having one of these high-risk hereditary cardiovascular diseases, but there are difficulties in confirming the diagnosis, genetic diagnosis may also be considered to assist in the evaluation of the condition.