Heart failure & cardiomyopathiesCohort study
Hypertrophic cardiomyopathy: prevalence of disease-specific red flags
- Retrospective cohort study
- multicentre (4 European centres)
Authors' conclusion
Red flags are a common finding in patients presenting with HCM, most commonly non-cardiac in non-sarcomeric aetiology and cardiac in sarcomeric HCM. Over 34% of RF, most relevant to rare HCM phenocopies, can be potentially detected in a generalist setting.
Study context
- Population
- Patients with a clinical diagnosis of hypertrophic cardiomyopathy (HCM) referred to four European centres
- Participants
- 818 patients
- Exposure
- Sarcomeric vs TTR and GLA variant vs Syndromic vs No identifiable cause
- Sarcomericn = 318
- TTR and GLA variantn = 240
- Syndromicn = 154
- No identifiable causen = 106
- Outcome
- Prevalence of pre-specified red flags (family history, physical examination, ECG, echocardiography, laboratory)
Main finding
As reported in the abstract
Red flags identified
- Total red flags (RFs) identified
- 2979
- RFs identifiable from clinical history and examination alone (generalist setting)
- 1018 (34%)
- RFs identified by 12-lead ECG and echocardiography (cardiologist's office)
- 1961 (66%)
- Physical RFs in definite non-sarcomeric aetiology
- 348/350 (99%)
- RFs from ECG and echocardiography, geno-positive HCM
- 692/990 (70%)
- RFs from ECG and echocardiography, geno-negative HCM
- 332/375 (88%)
Observational data: associations, not effects.
Further findings
Non-cardiac RFs (clinical history, physical examination, routine laboratory)
Age at diagnosis
- Non-sarcomeric patients diagnosed aged <20 and after 60 years
- 476/500, 95%
- Rasopathies, inherited metabolic and mitochondrial disorders: mean age at diagnosis
- 3 ± 2 years
- Danon disease, Friedreich's ataxia, Noonan syndrome, PRKAG2 cardiomyopathy: mean age at identification
- 16 ± 8 years
Original publication
Hypertrophic cardiomyopathy: prevalence of disease-specific red flags. Eur Heart J. Published 10 February 2025. doi:10.1093/eurheartj/ehaf026
Summarised from the published abstract; every number is checked against it