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Effect of body surface area and gender on wall thickness thresholds in hypertrophic cardiomyopathy
R Huurman1, A F L Schinkel2, N van der Velde2,3
1Department of Cardiology, Thorax Center, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. r.huurman@erasmusmc.nl.
Insights
Indexing maximal left ventricular wall thickness (MWT) by body surface area (BSA) or weight reduces hypertrophic cardiomyopathy (HCM) diagnoses in genotype-positive individuals. This adjustment improves the prediction of HCM-related events, especially in larger men.
Area of Science:
- Cardiology
- Genetics
- Clinical Diagnostics
Background:
- Family screening for hypertrophic cardiomyopathy (HCM) relies on genetic testing and clinical evaluation of maximal left ventricular wall thickness (MWT).
- Current diagnostic criteria for HCM may be influenced by gender and body size, potentially affecting screening accuracy.
- The study addresses the need to refine diagnostic parameters for HCM to improve patient stratification and outcome prediction.
Purpose of the Study:
- To evaluate the impact of gender and body size on the diagnosis of HCM in genotype-positive individuals.
- To assess how indexing MWT by body surface area (BSA) or weight affects HCM diagnosis and prediction of clinical outcomes.
- To determine the optimal method for MWT assessment in family screening for HCM.
Main Methods:
- Included 199 genotype-positive subjects undergoing cardiac screening.
- Derived gender-specific reference values for MWT indexed by BSA, height, and weight from 147 healthy controls.
- Assessed predictive accuracy for HCM-related events using receiver operating characteristic curves (AUC).
Main Results:
- Men exhibited higher absolute MWT, but similar BSA- and weight-indexed MWT compared to women.
- Applying BSA- and weight-indexed cut-off values significantly decreased HCM diagnoses and reclassified individuals, particularly larger men.
- Indexation of MWT by BSA or weight improved the predictive accuracy for HCM-related events.
Conclusions:
- Gender differences in MWT are minimized when indexed by BSA or weight in genotype-positive subjects.
- Indexation of MWT by BSA or weight reduces HCM prevalence, especially in larger men.
- BSA or weight indexation enhances the predictive accuracy for HCM-related events in family screening.
Background:
Family screening for hypertrophic cardiomyopathy (HCM) is based on genetic testing and clinical evaluation (maximal left ventricular wall thickness (MWT) ≥15 mm, or ≥13 mm in first-degree relatives of HCM patients). The aim of this study was to assess the effect of gender and body size on diagnosis of HCM and prediction of clinical outcome.
Methods:
This study includes 199 genotype-positive subjects (age 44 ± 15 years, 50% men) referred for cardiac screening. Gender-specific reference values for MWT indexed by body surface area (BSA), height and weight were derived from 147 healthy controls. Predictive accuracy of each method for HCM-related events was assessed by comparing areas under the receiver operating characteristic curves (AUC).
Results:
Men had a higher absolute, but similar BSA- and weight-indexed MWT compared with women (14.0 ± 3.9 mm vs 11.5 ± 3.8 mm, p < 0.05; 6.8 ± 2.1 mm/m2 vs 6.6 ± 2.4 mm/m2; 0.17 ± 0.06 mm/kg vs 0.17 ± 0.06 mm/kg, both p > 0.05). Applying BSA- and weight-indexed cut-off values decreased HCM diagnoses in the study group (48% vs 42%; 48% vs 39%, both p < 0.05), reclassified subjects in the largest, lightest and heaviest tertiles (≥2.03 m2: 58% vs 45%; ≤70 kg: 37% vs 46%; ≥85 kg: 53% vs 25%, all p < 0.05) and improved predictive accuracy (AUC 0.76 [95% CI 0.69-0.82] vs 0.78 [0.72-0.85]; and vs 0.80 [0.74-0.87]; both p < 0.05).
Conclusions:
In genotype-positive subjects referred for family screening, differences in MWT across gender are mitigated after indexation by BSA or weight. Indexation decreases the prevalence of HCM, particularly in larger men, and improves the predictive accuracy for HCM-related events.
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