194 Chapter 6 Proposed echocardiographic course in classical FD patients In chapter 2, the median age at onset of reduced LV EF and valvular disease was investigated and presented in figure 2. Additionally, the figure includes information from chapter 4, which compared the absolute values of echocardiographic markers between FD and healthy controls. As the comparison of absolute values within these two groups was not possible for sinus of Valsalva (SoV) and Global longitudinal strain (GLS), we took the age at which these abnormalities developed when the first patients exceeded the generally accepted reference value. In the first decades of adult life, IVSd and RWT were found to be higher in FD patients than in healthy controls. Surprisingly, an increase in RWT, a marker indicating LV remodeling, was observed in women with FD from the fourth decade onwards, whereas differences in LVMi were only observed ten years later. This suggests that for female FD patients, the course of LV cardiac disease follows a different path than in males with FD, with LV concentric remodeling prior to the development of concentric LVH. Thus, RWT may be a suitable measure for detecting women with early onset cardiac manifestations of FD, whereas LVMi may be a less ideal indicator of cardiac disease at a younger age. Previous studies have described sex dimorphism in FD [29] and sarcomeric hypertrophic cardiomyopathy (HCM) [30], which is an autosomal dominant disorder. This implies that, in addition to the sex dimorphism in FD (X-linked inheritance), the less marked LVH in female FD patients could be related to a different response on Gb3 storage. Other early and late ultrasound markers shown in the model (figure 2) demonstrate that morphological and functional echocardiographic abnormalities in women with FD manifest 10-20 years later than in men with FD, indicating again that men with classical FD have a more severe phenotype. However, the disease course in women is varied, with some women exhibiting a clinical, electrocardiographic and echocardiographic phenotype similar to men.
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