Key result
Anterior mitral valve leaflet length fails to predict HCM development in gene mutation carriers.
Why the study?
Does anterior mitral valve leaflet length predict the development of hypertrophic cardiomyopathy in HCM gene mutation carriers?
Cohort (n=268)
No
Does anterior mitral valve leaflet length predict the development of hypertrophic cardiomyopathy in HCM gene mutation carriers?
Effect estimate: HR 1.03 (95% CI 0.87-1.22)
p-value: p=0.72
Anterior mitral valve leaflet length is not elongated in HCM mutation carriers without hypertrophy and does not predict the development of HCM, challenging previous suggestions of its role as a primary phenotypic feature.
AMVL length adds no value to HCM prediction in carriers; challenges prior phenotypic hypotheses but leaves role open pending validation.
PURPOSE: Previous studies suggest that anterior mitral valve leaflet (AMVL) elongation is a primary phenotypic feature in hypertrophic cardiomyopathy (HCM). Our aim was to assess AMVL length in individuals with HCM gene mutations and in healthy controls and to identify predictors of the development of HCM during follow-up. METHODS: A total of 133 HCM mutation carriers and 135 controls underwent cardiac examination including electro- and echocardiography. AMVL length was measured in the parasternal long axis and apical three chamber view during diastole. Univariate and multivariable cox proportional hazard regression analyses were performed to identify predictors of HCM. RESULTS: There were no significant differences between HCM mutation carriers and controls regarding age and sex. In the parasternal long axis view, AMVL length was similar in mutation carriers and controls (24 ± 4 vs 24 ± 4 mm, p = 0.8). In the apical three chamber view, AMVL were shorter in mutation carriers (29 ± 4 vs 30 ± 4 mm, p = 0.02). When averaged for both views, AMVL length was similar in mutation carriers and controls (27 ± 3 vs 27 ± 3 mm, p = 0.2). During 5.8 ± 3.0 years follow-up, 13 (14%) HCM mutation carriers developed HCM. Pathological Q wave (hazard ratio 9.89, p = 0.004), E/e' ratio (hazard ratio 2.52, p = 0.001), and maximal wall thickness (hazard ratio 2.15, p = 0.001) were independent predictors of HCM. AMVL length was not predictive of the development of HCM. CONCLUSIONS: AMVL length is similar in HCM mutation carriers and controls. AMVL length is not predictive of the development of HCM, in contrast to pathological Q wave, E/e' ratio, and maximal wall thickness.
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Velzen et al. (2018) conducted a cohort in Hypertrophic cardiomyopathy gene mutation without hypertrophic changes (n=268). Anterior mitral valve leaflet length assessment was evaluated on Development of hypertrophic cardiomyopathy (predicted by AMVL length in PLAX view) (HR 1.03, 95% CI 0.87-1.22, p=0.72). Anterior mitral valve leaflet length was not predictive of the development of hypertrophic cardiomyopathy in gene mutation carriers during a 5.8-year follow-up (HR 1.03, p=0.72).
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