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

Retrospective

Inclusion Criteria:

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).

Exclusion Criteria:

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

Inclusion Criteria:

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.

Exclusion Criteria:

Concurrent participation in an interventional clinical trial unless approved by the sponsor.
Severe noncardiac disease anticipated to significantly reduce life expectancy.