This is a multicentre, prospective cohort study designed to elucidate the natural history of dilated cardiomyopathy (DCM) associated with specific gene mutations in Chinese patients. By establishing a cohort of patients with inherited cardiomyopathy, the study will collect comprehensive data, including demographic characteristics, disease history, clinical features, prior treatments, current treatment patterns, clinical outcomes, and patient-reported outcomes (PROs). The objective is to describe the disease profile, current diagnostic and therapeutic landscape, clinical progression, and prognosis of this specific patient population in China. The data generated will provide a foundational basis for deepening the understanding of disease progression, identifying unmet clinical needs, and exploring potential surrogate endpoints for future clinical trials in drug development. The study plans to enroll 10 eligible patients with BCL-2-associated athanogene 3 (BAG3)-associated inherited DCM from 3 research sites across China.
Age ≥18 years at screening, male or female;
Presence of a BAG3 pathogenic or likely pathogenic mutation interpreted according to the American College of Medical Genetics and Genomics (ACMG) guidelines;
Heart failure (HF) Stage B or C, New York Heart Association (NYHA) functional class I-III;
LVEF ≤50%. If LVEF is 45%-50% and the participant is classified as Stage B heart failure or NYHA Class I, N-terminal pro-B-type natriuretic peptide (NT-proBNP) must be ≥300 pg/mL. LVEF measurement must be based on echocardiography or cardiac magnetic resonance results within the past 12 months;
Acute decompensated heart failure within 1 month prior to enrollment;
Myocardial infarction
Cardiac surgical procedures (excluding pacemaker/implantable cardioverter defibrillator/cardiac resynchronization therapy implantation)
Implantable cardioverter defibrillator (ICD) implantation
BAG3 DCM
Cohort
Prospective
Observational, None intervention
Other interventionObservational, None intervention
changes in cardiac imaging parameters, left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS)
Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular ejection fraction (LVEF) and global longitudinal strain (GLS), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.
changes in cardiac imaging parameters, left ventricular end diastolic diameter (LVEDD)
Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular end diastolic diameter (LVEDD), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.
changes in cardiac imaging parameters, left ventricular end systolic volume index (LVESVi) and left ventricular end diastolic volume index (LVEDVi)
Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular end systolic volume index (LVESVi) and left ventricular end diastolic volume index (LVEDVi), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.
changes in cardiac imaging parameters, left ventricular mass index (LVMi)
Primary endpoints include changes from baseline in cardiac structure and function parameters, left ventricular mass index (LVMi), at Month 12 and subsequent follow-ups. Changes in the above imaging assessment results are presented as continuous numerical variables and the results of changes expressed as percentages.
Circulating Biomarkers
Descriptive summaries of High-sensitivity cardiac troponin I (hs-cTnI), High-sensitivity cardiac troponin T (hs-cTnT), and N-terminal pro b-type natriuretic peptide (NT-proBNP), and other circulating biomarkers level at baseline and each follow-up visit, including absolute and relative percentage changes from baseline. All of the above test parameters are measured in ng/L, and the changes are treated as continuous numerical variables.
Peak oxygen capacity (VO₂) measured by cardiopulmonary exercise testing (CPET)
Peak oxygen capacity (VO₂) measured by cardiopulmonary exercise testing (CPET) will be summarized at baseline and each time point, along with absolute and relative changes over time.
Kansas City Cardiomyopathy Questionnaire-23 (KCCQ-23)
Changes from baseline in KCCQ-23 overall and domain scores will be described using absolute and relative changes. Raw summary scores are converted to a 0-100 scale, with higher scores indicating better health status.
EuroQol 5-Dimension 5-Level Health Scale (EQ-5D-5L)
Changes from baseline in EQ-5D-5L overall and domain scores will be described using absolute and relative changes. The EQ-5D was developed by the EuroQol Group to provide a simple, generic measure of health. The EQ-5D primarily consists of two parts: the EQ-5D descriptive system and the EQ-5D visual analogue scale (VAS). The score ranges from \<0 to 1. Higher scores men a better outcome.
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