Dystrophinopathy
Conditions
Interventions
Dystrophinopathy and first-degree female relatives cohort:None
Sponsors
Peking University First Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patients clinically diagnosed with dystrophinopathy (including DMD, BMD, or X-linked dilated cardiomyopathy), with pathogenic variants in the DMD gene confirmed by genetic testing; or first-degree female relatives (mothers or sisters) of genetically confirmed patients. 2. For the retrospective cohort: individuals who underwent at least one transthoracic echocardiography or cardiac magnetic resonance (CMR) examination at Peking University First Hospital between January 1, 2000 and August 31, 2025, with imaging data preserved and adequate for cardiac functional assessment. 3. For the prospective cohort: individuals who voluntarily agree to participate and provide written informed consent; for minors, informed consent must be obtained from a legal guardian, with assent obtained from the participant when appropriate. 4. For the prospective cohort: individuals who are willing and able to comply with the study procedures, including echocardiography, CMR examinations, and peripheral blood sampling (if applicable). 5. Imaging data and/or biological samples of sufficient quality to meet the requirements for research analysis.
Exclusion criteria
Exclusion criteria: 1. Presence of other cardiomyopathies with clearly identified etiologies, such as Fabry disease, cardiac amyloidosis, severe hypertensive heart disease, or rheumatic heart disease. 2. Incomplete or poor-quality imaging data that preclude reliable assessment of left ventricular structure or function. 3. For the prospective cohort: failure to provide informed consent or withdrawal of consent during the study period. 4. Inability to comply with study-related procedures or follow-up requirements.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Left ventricular global longitudinal strain (GLS); | — |
Secondary
| Measure | Time frame |
|---|---|
| Segmental longitudinal strain;Myocardial work indices (e.g., GWI/GCW/GWW/GWE);Late gadolinium enhancement (LGE);Left ventricular ejection fraction (LVEF); | — |
Countries
China
Contacts
Public ContactMa Wei
Peking University First Hospital
Outcome results
None listed