Collecting Clinical and Genomic Data to Improve Diagnosis of Rare Inherited Cardiomyopathy Using Whole Genome Sequencing

What this Trial Is About

Researchers are studying cardiomyopathy, a major cause of heart failure that can lead to sudden cardiac death and often requires heart transplantation when standard treatments fail. This condition poses serious health risks, especially among young and middle-aged individuals, and impacts families emotionally. The study focuses on improving genetic diagnosis of cardiomyopathy in Korean patients by addressing the lack of population-specific genetic data and aims to find new disease mechanisms and diagnostic approaches through comprehensive genome analysis. The study collects clinical and genomic data from patients diagnosed with cardiomyopathy using whole genome sequencing WGS. Blood samples are taken during outpatient visits or hospital stays, and demographic, clinical, imaging, and laboratory data are gathered. These data are integrated for detailed analysis to create a genetic profile specific to the Korean population. The study is part of a larger national project supported by Korean health agencies. Participants provide informed consent and undergo blood draws for genomic testing. Clinical information, imaging such as echocardiography and cardiac MRI, and cardiovascular event records are collected and securely stored without personal identifiers. Researchers will evaluate genomic profiles at enrollment and monitor cardiovascular events for up to five years. The study ensures confidentiality and follows standard heart failure care guidelines, with data used to enhance understanding and diagnosis of inherited cardiomyopathies.

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