Heart failure & cardiomyopathies
Genotype and arrhythmic risk in patients with apical hypertrophic cardiomyopathy
Main finding · Composite of lethal arrhythmic events (LAE), including death, ventricular arrhythmia, implantable cardioverter defibrillator (ICD) implantation and appropriate ICD shockResult — go to the resultHazard ratio 0.62 95% CI 0.36–1.08Authors' conclusion
Although apical HCM is associated with less hypertrophy and lower genetic yield, it is not entirely benign. The presence of disease-causing variants is an important predictor of arrhythmic risk, underscoring the value of genetic testing in all HCM patients, regardless of phenotype.
Study context
- Population
- Patients with hypertrophic cardiomyopathy (HCM) who underwent next-generation sequencing at two tertiary centres in South Korea (2017–2024)patients with HCM, 67 (34.4%) had apical HCM
- Participants
- 195 patients
- Comparison
- Apical HCM with non-apical HCM
- Apical HCMn = 67
- Outcome
- Composite of:
- Lethal arrhythmic events (LAE)
- Including death
- Ventricular arrhythmia
- Implantable cardioverter defibrillator (ICD) implantation
- Appropriate ICD shock
Methodological detailstwo tertiary centres in South Korea, next-generation sequencing
- Two tertiary centres in South Korea
- Next-generation sequencing
Main finding
As reported in the abstract
Hazard ratio
0.62
95% CI 0.36–1.08
Apical HCM vs non-apical HCM
HR 0.62 (95% CI 0.36–1.08)
Secondary outcomes
Disease-causing variants
MYBPC3 and MYH7 variants
Association of disease-causing variants with lethal arrhythmic events (LAE)
| Comparison | Adjusted HR (95% CI) | |
|---|---|---|
| Presence of disease-causing variantsIndependently associated with LAE | 2.50 (1.44–4.35) | |
| 0.20.5125Adjusted hazard ratio (log scale) |
| Outcome | HR (95% CI) | |
|---|---|---|
| MACE (secondary outcome), such as new-onset atrial fibrillation, ischaemic stroke, heart failure hospitalisation, septal reduction therapy or heart transplantMACE occurred less frequently in apical HCM | 0.38 (0.19–0.75) | |
| 0.20.5125Hazard ratio (log scale) |
- Disease-causing variants: p<0.001
Age at diagnosis and maximal left ventricular wall thickness
- Patients with apical HCM were older at diagnosis and had lower maximal left ventricular wall thickness compared with non-apical HCM
Original publication
Genotype and arrhythmic risk in patients with apical hypertrophic cardiomyopathy. Heart. Published 7 April 2025. doi:10.
Summarised from the published abstract; every number is checked against it