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

Prior treatment

• Patient received cardiac transplantation or died \>10 years before study initiation. For homozygous or biallelic infants, data may be collected beyond this 10-year period.
  • Prospective
• Concurrent participation in an interventional clinical trial unless approved by the sponsor.

Other illness

• Severe noncardiac disease anticipated to significantly reduce life expectancy.

• 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.

Criteria the registry did not label

• Retrospective