Middlefield

Researchers are collecting information on children and infants with cardiomyopathy caused by mutations in the MYBPC3 gene. The study aims to understand the disease's progression, the burden it places on patients, risk factors, and quality of life. It focuses on pediatric patients under 18 years old who carry pathogenic or likely pathogenic MYBPC3 mutations, whether inherited in single or multiple forms. The study includes both retrospective and prospective groups. Retrospective data involves patients under 18 years old with documented MYBPC3 mutations, looking back at their medical history. The prospective group enrolls infants and children under 18 with these mutations and diagnoses of various types of cardiomyopathy, including hypertrophic, dilated, restrictive, mixed, or left ventricular noncompaction cardiomyopathy. Infants with homozygous or compound heterozygous truncating mutations are also eligible. No interventional treatments are being tested; instead, the study collects ongoing information about treatments, procedures, and outcomes. Participants will provide data over time to characterize the natural course of the disease, focusing on cardiac events and other clinical measurements over five years for the prospective group. The study will monitor disease progression, quality of life, and treatment outcomes by gathering genetic data and clinical information. Retrospective participants' data is used to assess past outcomes, while prospective participants will be followed to observe disease development and clinical events.