Retrospective Study Collecting Clinical and Genetic Data on RASopathy-associated Hypertrophic Cardiomyopathy with Heart Failure in Infants Admitted to Hospital by 6 Months of Age

What this Trial Is About

This research focuses on RASopathy-associated hypertrophic cardiomyopathy RAS-CM, a serious condition with high risk of illness and death when it appears in infancy. The study aims to collect detailed clinical and genetic data from patients with RAS-CM to create a comprehensive data set that can be used as external control information for future clinical trials. It also seeks to gather natural history information to help select additional outcome measures for upcoming studies. Participants in this observational study are patients with a genetic diagnosis of congenital RASopathy and hypertrophic cardiomyopathy who experienced heart failure. The study involves collecting and reviewing past clinical records and genetic test results from patients admitted between January 2015 and June 2019. This retrospective data collection helps build a detailed understanding of the disease course without administering any new treatments. During the study, researchers will analyze hospital admissions, heart function imaging, and genetic information to define important outcomes such as the one-year survival rate without heart transplant in infants who developed congestive heart failure within six months of life. This data will support future clinical trials by providing baseline comparisons and insights into disease progression. The study does not involve direct treatment and will rely on existing medical records for all assessments.

Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM)