Heart failure & cardiomyopathies
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry
Authors' conclusion
Carriage of a P/LP variant in HCM probands is associated with presentation at younger age, and cardiac arrest or sudden death events. Māori or Pacific probands were less likely to have a P/LP variant identified than European or other ethnicity probands.
Study context
- Population
- Hypertrophic cardiomyopathy (HCM) probands enrolled in the Cardiac Inherited Diseases Registry New Zealand who underwent clinical genetic testing over a 17-year period
- Participants
- 336 probands
- Exposure
- Māori or Pacific vs European or other ethnicity probands
- Outcome
- Genetic testing yield (P/LP variant) by self-identified ethnicity
Methodological detailsnational registry
- National registry
Main finding
As reported in the abstract
P/LP variant identified
P = 0.022
Observational data: associations, not effects.
Further findings
Variant of uncertain significance identified
P = 0.092
| Outcome | P value |
|---|---|
| P/LP variant identified, by sexWomen vs Men | P = 0.032 |
| Age at clinical diagnosis, by variant statusVariant-positive vs VUS/variant-negative | P < 0.001 |
- P/LP variant identified, by sex: Women 48%
- P/LP variant identified, by sex: Men 35%
- Age at clinical diagnosis, by variant status: Variant-positive 39 ± 17 years
- Age at clinical diagnosis, by variant status: VUS/variant-negative 50 ± 17 years
Overall P/LP variant yield
- P/LP variant identified
- 134 (40%)
- MYBPC3 gene
- 60%
- MYH7 gene
- 24%
Lifetime cardiac arrest or sudden death, by variant status
- More likely in variant-positive than VUS/variant-negative probands
- P = 0.002
Presentation
- Sudden death
- 13 (4%)
- Cardiac arrest
- 19 (6%)
Original publication
Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry. Circ Heart Fail. Published 8 March 2024. doi:10.
Summarised from the published abstract; every number is checked against it