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

Launched by YONSEI UNIVERSITY · Apr 23, 2025

Keywords

ClinConnect Summary

This clinical trial is focused on understanding rare inherited forms of cardiomyopathy, a condition that can lead to heart failure and is sometimes serious enough to require a heart transplant. The study aims to improve how we diagnose this condition in Korean patients by using advanced genetic testing called whole genome sequencing. This method looks at the entire genetic makeup of a person to identify any changes that could be causing the heart problem. Currently, many genetic tests do not provide clear answers, especially for people from East Asian backgrounds, so this study hopes to create a database that is specific to the Korean population, potentially uncovering new genetic causes of cardiomyopathy.

To participate in this study, individuals must be at least 19 years old and have a diagnosis of cardiomyopathy. They should either have a family history of the condition or have been diagnosed at a young age without clear reasons for their heart issues. Participants will undergo genetic testing and be part of a larger effort to better understand the genetic basis of cardiomyopathy, which could lead to new ways to diagnose and treat this disease. This is an important step toward improving care for patients and their families, especially since cardiomyopathy can be life-threatening.

Gender

ALL

Eligibility criteria

• 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)