Key result
Dilated cardiomyopathy is approximately twice as prevalent in male patients compared to female patients, with an overall male-to-female ratio of 2.38:1 that persists across genetic and gene-elusive subtypes.
Why the study?
Dilated cardiomyopathy appears diagnosed twice as often in males, possibly due to underdiagnosis in females or susceptibility differences, despite expected equal prevalence in autosomal dominant cases.
Meta-Analysis (n=37,525)
Effect estimate: Proportion 0.30 (95% CI 0.28-0.32)
Dilated cardiomyopathy is diagnosed more than twice as often in males than females, a persistent excess even in genotype-positive patients with equally prevalent genetic risk, suggesting sex-biased penetrance.
Male predominance in DCM persists across genetic subtypes; confirms sex-biased penetrance and supports sex-specific diagnostics.
BACKGROUND: Dilated cardiomyopathy (DCM) appears to be diagnosed twice as often in male than in female patients. This could be attributed to underdiagnosis in female patients or sex differences in susceptibility. Up to 30% of cases have an autosomal dominant monogenic cause, where equal sex prevalence would be expected. The aim of this systematic review, meta-analysis, and population study was to assess the sex ratio in patients with DCM, stratified by genetic status, and evaluate whether this is influenced by diagnostic bias. METHODS: A literature search identified DCM patient cohorts with discernible sex ratios. Exclusion criteria were studies with a small (n<100), pediatric, or peripartum population. Meta-analysis and metaregression compared the proportion of female participants for an overall DCM cohort and the following subtypes: all genetic DCM, individual selected DCM genes ( TTN and LMNA ), and gene-elusive DCM. Population DCM sex ratios generated from diagnostic codes were also compared with those from sex-specific means using the UK Biobank imaging cohort; this established ICD coded, novel imaging-first, and genotype first determined sex ratios. RESULTS: A total of 99 studies, with 37 525 participants, were included. The overall DCM cohort had a 0.30 female proportion (95% CI, 0.28–0.32), corresponding to a male:female ratio (M:F) of 2.38:1. This was similar to patients with an identified DCM variant (0.31 [95% CI, 0.26–0.36]; M:F 2.22:1; P =0.56). There was also no significant difference when compared with patients with gene-elusive DCM (0.30 [95% CI, 0.24–0.37]; M:F 2.29:1; P =0.81). Furthermore, the ratio within autosomal dominant gene variants was not significantly different for TTN (0.28 [95% CI, 0.22–0.36]; M:F 2.51:1; P =0.82) or LMNA (0.35 [95% CI, 0.27–0.44]; M:F 1.84:1; P =0.41). Overall, the sex ratio for DCM in people with disease attributed to autosomal dominant gene variants was similar to the all-cause group (0.34 [95% CI, 0.28–0.40]; M:F 1.98:1; P =0.19). In the UK Biobank (n=47 549), DCM defined by International Classification of Diseases, 10th revision, coding had 4.5:1 M:F. However, implementing sex-specific imaging-first and genotype-first diagnostic approaches changed this to 1.7:1 and 2.3:1, respectively. CONCLUSIONS: This study demonstrates that DCM is twice as prevalent in male patients. This was partially mitigated by implementing sex-specific DCM diagnostic criteria. The persistent male excess in genotype-positive patients with an equally prevalent genetic risk suggests additional genetic or environmental drivers for sex-biased penetrance. REGISTRATION: URL: https://www.crd.york.ac.uk/prospero ; Unique identifier: CRD42023451944.
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Prachee et al. (2025) conducted a meta-analysis in Dilated Cardiomyopathy (n=37,525). Male sex vs. Female sex was evaluated on Proportion of female participants in the overall DCM cohort (Proportion 0.30, 95% CI 0.28-0.32). Dilated cardiomyopathy is approximately twice as prevalent in male patients compared to female patients, with an overall male-to-female ratio of 2.38:1 that persists across genetic and gene-elusive subtypes.
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