Dilated cardiomyopathy (DCM)
Conditions
Interventions
None listed
Sponsors
University of Tokyo Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: (i) Patients who have given their consent to participate in this study. (ii) Male and female patients aged 20 years or older (at the time of obtaining consent) (iii) Patients whose LVEF no larger than 40% was first documented by echocardiography or cardiac MRI within 1 year of the date of collection of the genetic information sample. (iv) Blood relatives of the subject whose causative genetic mutation cannot be identified, men and women aged 20 years or older who have given their consent to participate in this study. (v) Patients who are subjects of existing studies (UTokyo G2249 and "Susceptibility Gene Analysis Study of Hereditary Cardiovascular Diseases (Osaka University)" and fulfil the above criteria i) ~ iii)].
Exclusion criteria
Exclusion criteria: (i) Ischaemic cardiomyopathy and old myocardial infarction (ii) History of congenital heart disease of moderate severity or higher (iii) Other patients who are judged by the principal investigator to be unsuitable as research subjects for this study (iv) Patients under 20 years of age who are subjects of existing studies (UTokyo G2249 and "Susceptibility Gene Analysis Study of Hereditary Cardiovascular Diseases (Osaka University)").
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Comprehensive analysis of genetic mutations by whole exome sequencing analysis. Identification of patterns of genetic mutations associated with clinical features and development of risk scores. | — |
Secondary
| Measure | Time frame |
|---|---|
| Identification of genetic mutation patterns associated with cardiac imaging and development of a risk score. Identification of genetic mutation patterns associated with histo-molecular pathology features and development of a risk score. Universalization of pathogenicity determination and the operation of return of results. Evaluation of the psychological burden on patients and their families during genome analysis and return of results. Development of a stratification algorithm integrating genomics, clinical AI and molecular pathology. | — |
Countries
Japan
Contacts
Public ContactSeitaro Nomura
University of Tokyo Hospital Department of Cardiovacsular Medicine
Outcome results
None listed