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

Conditions de participation

• Sexe:

  ALL

• Âges admissibles:

  0 to 18

Critères de participation

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.