Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases

COR ET VASA(2023)

引用 0|浏览1
暂无评分
摘要
In contemporary cardiology, genetics is mainly applied to cardiovascular diseases with Mendelian inheritance. These diseases include cardiomyopathy, hereditary forms of arrhythmic syndromes, aortic syndromes, and some congenital developmental defects. The common risk of all mentioned groups of diseases is sudden cardiac death, which is why post-mortem examination and care for relatives and survivors are an important part. The goal of clinical genetic examination and genetic counselling in cardiology is to carry out a detailed description of the disease - phenotyping, compiling a family tree, cascade cardiology screening in the family and, in indicated cases, molecular genetic diagnosis - genotyping. Knowledge of the molecular nature of genetic diseases opens up the possibilities of the so-called molecular genetic stratification of diseases, the goal of which is personalized care for patients and their relatives. Cardiogenetic examination is a complex matter, where it is necessary to build interdisciplinary teams. Communication between individual experts and teams on a national scale is absolutely essential to ensure care for patients with rare and very rare forms of hereditary disease.
更多
查看译文
关键词
Genetic analysis,Family cascade screening,Inherited cardiovascular diseases
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要