Heart failure & cardiomyopathies
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy
Authors' conclusion
The disease expression of HCM among index patients and affected relatives carrying P/LP variants in recognized disease genes was similar, with an equal risk of experiencing MACE.
Study context
- Population
- Hypertrophic cardiomyopathy (HCM) index patients and relatives of index patients carrying pathogenic/likely pathogenic (P/LP) variants in recognized HCM genes
- Participants
- 453 index patients
- Exposure
- Genotype-positive relatives with HCM vs genotype-positive index patients
- Relatives with HCMn = 160
- Indexn = 183reference
- Outcome
- Penetrance, disease expression and incidence rates of MACE in P/LP variant carriers
- Follow-up
- 8 years
Methodological detailsconsecutive unrelated index patients, cascade family screening
- Consecutive unrelated index patients
- Cascade family screening
Main finding
As reported in the abstract
Penetrance of HCM among genotype-positive relatives
39%
160/407
Index patients carrying a P/LP variant
40%
183/453
Relatives available for investigation
84%
757/903
Available relatives carrying a P/LP variant
54%
407/757
Observational data: associations, not effects.
Further findings
Age at diagnosis · similar age
P = 0.11
Original publication
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy. JACC Adv. Published 12 September 2023. doi:10.
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