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Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment
Markus Niemann1, Sebastian Herrmann, Kai Hu
1Department of Internal Medicine I, University of Würzburg, Würzburg, Germany.
Insights
Fabry cardiomyopathy in women can cause fibrosis and impaired function without left ventricular hypertrophy, unlike in men. This suggests different diagnostic and monitoring strategies are needed for female Fabry disease patients.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Fabry cardiomyopathy in males presents with left ventricular hypertrophy, impaired function, and fibrosis.
- The cardiac manifestations in female Fabry disease patients are not well-defined.
- This study investigates sex-specific differences in Fabry cardiomyopathy.
Purpose of the Study:
- To test the hypothesis that Fabry cardiomyopathy differs between male and female patients.
- To characterize cardiac involvement in a large cohort of Fabry disease patients.
- To inform updated diagnostic and monitoring guidelines for female patients.
Main Methods:
- 104 genetically confirmed Fabry disease patients (58 female, 46 male) were studied.
- Echocardiography and strain rate imaging assessed left ventricular hypertrophy and myocardial deformation.
- Cardiac magnetic resonance (CMR) imaging identified myocardial fibrosis using late enhancement (LE).
Main Results:
- Female patients showed detectable fibrosis (LE) with lower left ventricular wall thickness (LVWT) and mass compared to males.
- In females, LE occurred even without left ventricular hypertrophy, unlike in males.
- Myocardial fibrosis was associated with reduced systolic strain rate in females, independent of LVWT.
Conclusions:
- Cardiac fibrosis and dysfunction in female Fabry patients can occur without left ventricular hypertrophy.
- Current diagnostic and monitoring recommendations for Fabry cardiomyopathy may need revision for female patients.
- Assessment should include left ventricular hypertrophy and fibrosis in females.
Objectives:
We hypothesized that Fabry cardiomyopathy in female patients might differ substantially from that in male patients and sought to prove this hypothesis in a large cohort consisting of 104 patients with Fabry disease.
Background:
Fabry cardiomyopathy in male patients is characterized by left ventricular (LV) hypertrophy, impaired myocardial function, and subsequent progressive myocardial fibrosis. In contrast, the occurrence of these 3 cardiomyopathic hallmarks in female patients remains unknown.
Methods:
In 104 patients (58 females, age 42 ± 16 years; 46 males, age 42 ± 13 years) with genetically proven Fabry disease, LV hypertrophy, regional myocardial deformation and myocardial fibrosis were assessed by standard echocardiography, strain rate imaging, and cardiac magnetic resonance (CMR) imaging-guided late enhancement (LE).
Results:
In men, end-diastolic left ventricular wall thickness (LVWT) ranged from 6 to 19.5 mm (LV mass CMR 55 to 200 g/m(2)), and LE was never seen with LVWT <12 mm (LV mass <99 g/m(2)). In contrast in female patients, LVWT ranged from 5 to 15.5 mm, LV mass ranged from 39 to 146 g/m(2), and LE was already detectable with an LVWT of 9 mm (LV mass 56 g/m(2)). When LV mass was examined in CMR, LE was detected in 23% of the female patients without hypertrophy (n=9), whereas LE was never seen in male patients with normal LV mass. LE was always associated with low systolic strain rate, but the severity of impairment was independent of LVWT in female patients (lateral strain rate in patients with LV hypertrophy with LE -0.7 ± 0.2 s(-1); patients without LV hypertrophy with LE -0.8 ± 0.2 s(-1); p=0.45).
Conclusions:
In contrast to male patients, the loss of myocardial function and the development of fibrosis do not necessarily require myocardial hypertrophy in female patients with Fabry disease. Thus, in contrast to actual recommendations, initial cardiac staging and monitoring should be based on LV hypertrophy and on replacement fibrosis in female patients with Fabry disease.
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