Heart failure & cardiomyopathiesCohort study
Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives
- Prospective cohort study
- family screening
- consecutive unrelated index patients
80% of relatives (751 of 938) participated; median age 44 years
Authors' conclusion
Systematic family screening of index patients with HCM and normal genetic investigations was associated with a low frequency of affected relatives who appeared to have a favorable prognosis.
Study context
- Population
- Relatives of hypertrophic cardiomyopathy (HCM) index patients without pathogenic/likely pathogenic variants in recognized HCM genesrelatives of 270 index patients
- Participants
- 751 relatives
- Outcome
- Frequency of familial HCM among relatives
Main finding
As reported in the abstract
HCM among relatives
Diagnosed with HCM at baseline
5% (34 of 751)
Developed HCM during 5 years of follow-up
0.3% (2 of 717 [751-34])
Observational data: associations, not effects.
Further findings
Age at diagnosis, affected relatives
- Median age at diagnosis
- 57 years (IQR: 51-70 years)
Mode of diagnosis, affected relatives
- Diagnosed following family screening
- 22 of 36
- Diagnosed previously because of cardiac symptoms, a murmur or an abnormal ECG
- 14 of 36
Adverse disease complications, affected relatives
- None of the affected relatives experienced adverse disease complications
- 0
- Risk of SCD was low
Safety
Adverse disease complications in affected relatives
- None of the affected relatives experienced adverse disease complications
- 0
- Risk of SCD was low
Original publication
Patients With Hypertrophic Cardiomyopathy and Normal Genetic Investigations Have Few Affected Relatives. J Am Coll Cardiol. Published 31 October 2023. doi:10.1016/j.jacc.2023.08.041
Summarised from the published abstract; every number is checked against it