An Observational Study of Genetic Cardiomyopathy, Danon Disease
The goal of this international observational study is to learn about the natural history of Danon disease in male patients \>8 years of age and female patients \<30 years of age. The key objectives include assessing change over time in cardiac structure (left ventricular mass and wall thickness), cardiac biomarkers, symptoms, and quality of life and the incidence of clinical events such as HF hospitalization, cardiac transplantation, and death.
‣ Prospective Cohort:
• Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
• Patient or parent/legal guardian are capable and willing to provide signed informed consent
• Age ≥ 8 years at enrollment
• Female Prospective Cohort:
• Evidence of left ventricular hypertrophy with preserved systolic function in the 12 months prior to or at enrollment as defined by each of the following:
• Retrospective (only) Cohort:
• Documentation of a pathogenic or likely pathogenic variant of the LAMP2 gene by a CLIA-certified genetic testing laboratory
• Patient or parent/legal guardian are capable and willing to provide signed informed consent, as required by local regulations
• Age ≥ 8 years at enrollment
• Prior cardiac transplantation or prior mechanical circulatory support
• At least 30 days of retrospective medical records available prior to cardiac transplantation or mechanical circulatory support
• Female Retrospective (only) Cohort:
⁃ Prior evidence of left ventricular hypertrophy.