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Published on: August 8, 2022
Sex-disaggregated data in hypertrophic cardiomyopathy: a targeted literature review, meta-analysis and primary cohort
Ven Gee Lim1,2,3,4, Maria Kokara5, Ayisatu Jarrett1
1Institute for Cardio-Metabolic Medicine (ICMM), University Hospitals Coventry and Warwickshire NHS Trust, Coventry, England, UK.
Insights
Women with hypertrophic cardiomyopathy (HCM) are diagnosed later and have worse outcomes than men. This study highlights significant sex-based disparities in HCM presentation, progression, and mortality, necessitating further research.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition with autosomal dominant inheritance.
- Despite similar genetic prevalence, sex-based differences in HCM presentation, progression, and outcomes are increasingly recognized.
- Understanding these sex-based physiological differences is crucial for personalized patient management.
Purpose of the Study:
- To investigate sex-based differences in hypertrophic cardiomyopathy (HCM) presentation, diagnosis, and outcomes.
- To compare clinical characteristics, biomarker levels, and treatment responses between male and female HCM patients.
- To synthesize existing literature and present novel data from a UK-based patient cohort.
Main Methods:
- A targeted literature review of MEDLINE and Web of Science was conducted.
- A meta-analysis of sex-disaggregated data on NT-proBNP, echocardiography, cardiac MRI, genetic mutations, and outcomes was performed.
- A retrospective analysis of 207 patients diagnosed with HCM between 2007 and 2025 at University Hospitals Coventry and Warwickshire NHS Trust was undertaken.
Main Results:
- Females were diagnosed at an older age (59.4 vs 53.5 years) with lower septal and left ventricular wall thickness compared to males.
- Males exhibited lower NT-proBNP levels, potentially indicating sex-based differences in cardiovascular stress.
- Females experienced higher rates of septal reduction therapy (44.1% vs 19.6%) and higher mortality (20.5% vs 9.3%), though adjusted analyses for mortality did not reach statistical significance.
Conclusions:
- Findings support literature suggesting females are diagnosed later with HCM and face poorer outcomes.
- Sex-based disparities in HCM are evident in diagnosis age, clinical presentation, and potentially survival.
- Further research is warranted to elucidate the clinical implications of these sex-based disparities in hypertrophic cardiomyopathy.
Objective:
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy characterised by pathological left ventricular hypertrophy and categorised into obstructive and non-obstructive subtypes. While its autosomal dominant inheritance pattern would suggest similar prevalence, emerging evidence suggests sex-based physiological differences in presentation, progression and outcomes. We sought to better understand these differences in the literature and among our own cohort of patients with HCM.
Methods:
A targeted literature review (TLR) of MEDLINE and Web of Science, and subsequent meta-analysis of NT-proBNP captured sex-disaggregated echocardiographic and cardiac MRI values, genetic mutation effects, biomarker levels and outcomes. A retrospective study of patients diagnosed with HCM at University Hospitals Coventry and Warwickshire NHS Trust, UK between January 2007 and January 2025 examined sex-based differences in presentation, diagnosis and outcomes in HCM.
Results:
The TLR found that females were older at diagnosis and had significantly lower septal and left ventricular wall thickness and left ventricular mass. The meta-analysis showed males had lower NT-proBNP levels than females, potentially reflecting sex-based differences in cardiovascular stress. In our cohort (n=207) comprising 78 (38%) females, age at diagnosis was higher (59.4±20.5 vs 53.5±16.1 years; p=0.026) among females than males, with no significant baseline differences in ethnicity, HCM subtype or social deprivation. Maximal wall thickness was higher in males (21.7±6.8 vs 18.2±2.9 mm; p=0.007). Females had higher rates of septal reduction therapy (44.1% vs 19.6%; p=0.018). Mortality was higher among females (20.5% vs 9.3%; p=0.022; 28 deaths at end of follow-up) though adjusted analyses did not reach significance (HR 2.09, 95% CI 0.998, 4.45; p=0.057).
Conclusions:
The findings from our cohort support the results of the TLR that females tend to be diagnosed with HCM later than males and experience worse symptoms and outcomes. Further research should clarify the implications of sex-based disparities.
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