Acquirement of Clinical and Genomic Data to Diagnose in Rare Inherited Cardiomyopathy

"Study Design The investigator will collect data from patients diagnosed with cardiomyopathy and will utilize secondary, real-world patient data obtained from electronic medical records at participating institutions.

Study Methods

• Blood samples will be collected after obtaining informed consent from eligible patients during outpatient visits or hospitalization. Informed consent will be obtained in a private setting to ensure patient confidentiality, with sufficient explanation provided. The study will follow standard diagnostic and treatment guidelines commonly applied to heart failure patients in Korea. Demographic information, clinical characteristics, imaging data (echocardiography, cardiac MRI), laboratory findings, and cardiovascular events will be documented separately using a case report form.
• Following informed consent, approximately 5-10 mL of whole blood will be drawn on the same day or during the subsequent outpatient visit. The sample will be transported to SCL on the day of collection, where plasma and buffy coat will be separated and stored.
• Genomic, laboratory, and imaging data will be integrated for comprehensive statistical analysis.
• All study data will be stored on password-protected computers with restricted access. No personal identifiers will be included to ensure data confidentiality."

Inclusion criteria

patients aged 19 years or older who have provided written consent for participation, have the capability to consent voluntarily and have been diagnosed with cardiomyopathy, as defined by one of the following criteria: -Ones with suspected genetic cardiomyopathy of unknown etiology, meeting at least one of the following conditions: i) Patients with idiopathic cardiomyopathy, for whom no clear secondary causes (e.g., history of hypertension, alcohol abuse, or chemotherapy) can be identified, and in whom a genetic etiology is strongly suspected.

ii) Patients who have previously undergone genetic testing using an NGS panel, but no pathogenic variants were identified, and further evaluation with whole genome sequencing (WGS) is warranted.

iii) Patients diagnosed with cardiomyopathy before the age of 50, without known contributing factors such as hypertension or excessive alcohol consumption, raising a strong suspicion of a genetic cause.

-Patients with a family history of genetic cardiomyopathy, defined as having at least one first-degree relative (parent, sibling, or child) diagnosed with the same type of cardiomyopathy, confirming a familial genetic pattern.

Exclusion criteria

• Patients with confirmed ischemic cardiomyopathy (when stenosis of 75% or more of major coronary arteries is confirmed on coronary artery imaging or ischemic cardiomyopathy findings such as transmural LGE on cardiac MRI)
• Heart failure with other etiologies (e.g., valvular heart disease, endocrine disease)