In this study, patients with monogenic cardiovascular disease are recruited prospectively after informed consent was given. The investigator will collect the baseline clinical characteristics of the patients at enrollment, including comprehensive physical examination, laboratory testing of blood and urine, electrocardiography, 24-hour Holter, echocardiography, MRI and other examinations if necessary. The specimens retained include blood, saliva, urine and feces for all patients, and myocardium for patients receive cardio myectomy surgery . Genetic testing will be performed to identify novel disease genes, genetic risk factors and potential therapy targets.
Cardiovascular diseases are the leading cause of death in China and have become a financial burden on society under the traditional medical model. A new and sustainable medical model is needed to solve this dilemma, for which precision medicine models have great potential. Monogenic cardiovascular disease is the first field to be broken through in precision medicine at this stage, and it is also the field where precision medicine is most likely to be successfully transformed into clinical application, including genetic diagnosis, molecular typing, risk stratification, genetic interruption and individualized treatment.