Congenital Heart Disease
Conditions
Interventions
Sponsors
Beijing huaxin hospital(First Hospital of Tsinghua University)
Eligibility
Sex/Gender
All
Age
No minimum to 80 Years
Inclusion criteria
Inclusion criteria: Complex Congenital Heart Disease Group: 1. Clinically and radiologically confirmed diagnosis of complex congenital heart disease, defined as the presence of compound intracardiac or great vessel structural malformations, or a single malformation with significant hemodynamic impact requiring interventional/surgical treatment in infancy, or cases associated with genetic syndromes, chromosomal abnormalities, and multisystem congenital anomalies; including but not limited to tetralogy of Fallot, complete transposition of the great arteries, double-outlet right ventricle, single ventricle, pulmonary atresia, complete atrioventricular septal defect, persistent truncus arteriosus, total anomalous pulmonary venous connection, interrupted aortic arch, hypoplastic left/right heart syndrome, etc. 2. Age =8 years old) must also be obtained. 5. Agree to the use of residual clinical blood samples for genomic sequencing; agree to the collection of basic information for research purposes.
Exclusion criteria
Exclusion criteria: Complex Congenital Heart Disease Group: 1. Clinical or imaging data are insufficient to clearly diagnose complex congenital heart disease. 2. Patients in the acute phase of severe high-altitude disease, in the perinatal period, or with psychiatric disorders or cognitive/behavioral impairment that makes them unsuitable for participation in the study. 3. Refusal to participate in the study or inability to sign the informed consent form. 4. Participation in other interventional clinical studies within the past 3 months. 5. History of heart transplantation. 6. History of bone marrow transplantation. Simple Congenital Heart Disease Group: 1. Clinical or imaging findings suggest the possibility of unconfirmed compound malformations or genetic syndromes. 2. Patients in the acute phase of severe high-altitude disease, in the perinatal period, or with psychiatric disorders or cognitive/behavioral impairment that makes them unsuitable for participation in the study. 3. Refusal to participate in the study or inability to sign the informed consent form. 4. Participation in other interventional clinical studies within the past 3 months. 5. History of heart transplantation. 6. History of bone marrow transplantation. Healthy Control Group: 1. Major congenital anomalies or other systemic diseases (e.g., severe hepatorenal disease, neurological disorders). 2. History or current presence of malignant tumors; hematological disorders or coagulation abnormalities; immunodeficiency or long-term use of immunosuppressants/corticosteroids. 3. Refusal by the guardian to participate or inability to sign the informed consent form. 4. Participation in other clinical studies within the past 3 months. 5. History of heart transplantation. 6. History of bone marrow transplantation.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genomic-imaging-clinical phenotypic association spectrum of complex congenital heart disease;Spectrum of High-Altitude-Specific Genetic Variations; | — |
Secondary
| Measure | Time frame |
|---|---|
| Cohort person-time and event incidence rates;Detection timeliness;Detection accuracy;Diagnostic performance: sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV);Image quality indicators: echocardiographic image qualification rate, DICOM standardization rate, structured report completeness rate;Prognostic association indicators: Genotype-phenotype association strength (OR value), genotype-prognostic association (HR value in survival analysis); | — |
Countries
China
Contacts
Public ContactHu Chang
Beijing huaxin hospital(First Hospital of Tsinghua University)
Outcome results
None listed