Cardiovascular Diseases
Conditions
Keywords
monogenic cardiovascular disease, clinical outcomes, genomics, genetic diagnosis, risk stratification
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
China National Center for Cardiovascular Diseases
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Patients with monogenic cardiovascular diagnosed according current practice guideline.
Exclusion criteria
* Patients who refuse to sign the informed consent or decline follow-up.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| number of participants with cardiovascular deaths | an average of 5 years | including sudden cardiac death and deaths due to heart failure and stroke. |
| number of participants with all-cause death | an average of 5 years. | deaths due to all cause. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| number of participants with heart failure | an average of 5 years | progress to level III or IV in New York Heart Association class. |
| number of participants with stroke | an average of 5 years | including cerebral infraction and hemorrhage |
| number of participants with malignant arrhythmia | an average of 5 years | including ventricular fibrillation and ventricular tachycardia |
Countries
China
Contacts
Primary ContactLei Song, MD.&ph.D
Backup ContactLei Song, MD.ph.D
Outcome results
None listed