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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Women with hypertrophic cardiomyopathy have worse survival
Jeffrey B Geske1, Kevin C Ong1, Konstantinos C Siontis2
1Department of Cardiovascular Diseases, Mayo Clinic, 200 First St. S.W., Rochester, MN 55905, USA.
Insights
Women with hypertrophic cardiomyopathy (HCM) present with more severe symptoms and poorer outcomes. Female sex is linked to worse survival in HCM patients, suggesting a need for tailored management strategies.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Sex differences in hypertrophic cardiomyopathy (HCM) are not well understood.
- Characterizing these differences is crucial for effective patient management.
Purpose of the Study:
- To investigate and define sex-based disparities in the clinical presentation, hemodynamics, and survival of patients with HCM.
- To determine if female sex is an independent predictor of mortality in HCM.
Main Methods:
- Retrospective analysis of 3,673 adult HCM patients evaluated between 1975 and 2012.
- Kaplan-Meier survival analysis and Cox proportional hazard regression were used to assess sex differences and mortality.
- Clinical data, including symptoms, obstructive physiology, mitral regurgitation, echocardiographic parameters, exercise performance, and interventions, were compared between sexes.
Main Results:
- Women were older at presentation, with more severe symptoms (NYHA Class III-IV), increased obstructive physiology, and greater mitral regurgitation.
- Female patients exhibited worse hemodynamic profiles, including higher E/e' ratios and pulmonary artery systolic pressures, and poorer cardiopulmonary exercise performance.
- Kaplan-Meier analysis revealed significantly lower survival rates in women compared to men (P < 0.0001).
- Multivariable analysis confirmed female sex as an independent predictor of mortality (HR 1.13 [1.03-1.22], P = 0.01).
Conclusions:
- Women with HCM present with more advanced disease and distinct hemodynamic characteristics compared to men.
- Female sex is a significant determinant of worse survival in hypertrophic cardiomyopathy.
- These findings underscore the need for sex-specific diagnostic and therapeutic approaches in HCM management.
Aims:
Sex differences in hypertrophic cardiomyopathy (HCM) remain unclear. We sought to characterize sex differences in a large HCM referral centre population.
Methods And Results:
Three thousand six hundred and seventy-three adult patients with HCM underwent evaluation between January 1975 and September 2012 with 1661 (45.2%) female. Kaplan-Meier survival curves were assessed via log-rank test. Cox proportional hazard regression analyses evaluated the relation of sex with survival. At index visit, women were older (59 ± 16 vs. 52 ± 15 years, P < 0.0001) had more symptoms [New York Heart Association (NYHA) Class III-IV 45.0% vs. 35.3%, P < 0.0001], more obstructive physiology (77.4% vs. 71.8%, P = 0.0001), more mitral regurgitation (moderate or greater in 56.1% vs. 43.9%, P < 0.0001), higher E/e' ratio (n = 1649, 20.6 vs. 15.6, P < 0.0001), higher estimated pulmonary artery systolic pressure (n = 1783, 40.8 ± 15.4 vs. 34.8 ± 10.8 mmHg, P < 0.0001), worse cardiopulmonary exercise performance (n = 1267; percent VO2 predicted 62.8 ± 20% vs. 65.8 ± 19.2%, P = 0.007), and underwent more frequent alcohol septal ablation (4.9% vs. 3.0%, P = 0.004) but similar frequency of myectomy (28% vs. 30%, P = 0.24). Median follow-up was 10.9 (IQR 7.4-16.2) years. Kaplan-Meier analysis demonstrated lower survival in women compared with men (P < 0.0001). In multivariable modelling, female sex remained independently associated with mortality (HR 1.13 [1.03-1.22], P = 0.01) when adjusted for age, NYHA Class III-IV symptoms, and cardiovascular comorbidities.
Conclusion:
Women with HCM present at more advanced age, with more symptoms, worse cardiopulmonary exercise tolerance, and different haemodynamics than men. Sex is an important determinant in HCM management as women with HCM have worse survival. Women may require more aggressive diagnostic and therapeutic approaches.
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