Natural History Study in Pediatric Patients With MYBPC3 Mutation-associated Cardiomyopathy

Inclusion Criteria

• •Retrospective
• •Data is available for patient \<18 years of age. Patients must be \<18 years of age at enrollment or at time of death.
• •Documented results of genotyping showing the presence of at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
• •For Infants:
• •Infants who are homozygous or compound heterozygous for the known pathogenic truncating MYBPC3 mutations are eligible.
• •For all other participants:
• •Age \<18 at entry into the prospective study.
• •Documented results of genotyping identifying at least one pathogenic or likely pathogenic MYBPC3 mutation (heterozygous, homozygous, or compound heterozygous).
• •Diagnosis of Cardiomyopathy (CM): HCM, DCM, RCM, mixed CM, or LVNC.