At present, we are talking about hereditary cardiovascular diseases, including hereditary cardiomyopathy, arrhythmia, aortic disease and congenital dyslipidemia. Compared with other hereditary diseases, the incidence of hereditary cardiovascular disease is relatively high: 1/500 for hypertrophic cardiomyopathy; 1/500~1/300 for congenital dyslipidemia. Therefore, this morbidity group is very large. Although there is no exact figure in China, it is estimated to exceed 10 million people! It is very necessary to study the mechanism, diagnosis and treatment, early screening and precision medical diagnosis based on the huge disease group of cardiovascular disease and serious disease consequences.
Let's take a look at how these aspects are progressing.
Progress in molecular mechanism research
In this aspect of mechanism research, the genetic mechanisms of major hereditary cardiovascular diseases have become clearer. In cardiomyopathy, arrhythmia, aortic disease, etc. Many pathogenic genes have been reported in succession:
Cardiomyopathy >100
Arrhythmia 40~50
About 20 dyslipidemias
About 20 aortic diseases
Progress in diagnosis and treatment technology
Diagnosis and treatment technology
The diagnosis and treatment technology of hereditary cardiovascular disease needs to fully utilize the platform of second-generation sequencing. Before the second generation was sequenced, we were only able to detect the genes and loci of the disease genes through the detection of a single gene.
The second-generation sequencing features high throughput, large amount of detection data, and fast speed, allowing us to package related genes. Different laboratories take different approaches:
1. Packing dozens of genes of a disease-related gene;
2. Package nearly 200 genes associated with hereditary cardiovascular disease.
Technical comparison
From a technical point of view, there is no technical comparison. Because second-generation sequencing is inevitable for the detection process. Although the hospital will be affected by various policies and regulations, if there is no second-generation sequencing platform and no laboratory self-test method is established, the clinical first line will not be able to achieve molecular diagnosis well.
Clinical application status
At present, the clinical application abroad has been very mature, mainly used for clinical routine testing. Of course, there are many issues to consider, such as cost, post-validation workload, and ethical issues.
Application of cardiomyopathy
Currently, the most widely used in the genetic cardiovascular field is the diagnosis of cardiomyopathy. Cardiomyopathy is one of the most clinically demanding diseases and the most difficult to diagnose. The classification is complex: the clinical phenotypes of different cardiomyopathy will cross; different cardiomyopathy will have phenotypic changes at different stages of development; different myocardial pathogenic genes have different and similarities.
Factors affecting the detection rate?
1. Research stage
According to reports, the incidence of hypertrophic cardiomyopathy is the highest, the detection rate is 50% to 60%; the detection rate of dilated cardiomyopathy is relatively low, but there may be some secondary factors, not completely genetic factors. kick in. In addition, the detection rate of other cardiomyopathy such as arrhythmogenic right ventricular cardiomyopathy ARVC needs to be improved. Therefore, the research stage of cardiomyopathy will also affect its detection rate.
2. Differentiation of preclinical clinical phenotypes
At present, in the Fuwai Hospital, if the clinical phenotype is relatively clear, the detection rate of cardiomyopathy can reach 30% to 40%. If the clinical phenotype is not very clear, the clinical information is not perfect and the detection rate is lower.
Therefore, the differentiation of preclinical clinical phenotypes is very important in the diagnosis of hereditary cardiovascular disease.
Domestic clinical application
At present, Fuwai Hospital, Tongji Hospital and Chang University Second Hospital have built a very complete platform. Some commercial laboratories are also testing this aspect. However, the situation with clinical integration needs to be improved.
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