ABSTRACT
BACKGROUND: Fabry disease (FD) is a multisystem, monogenic, X-linked storage disorder caused by mutations in the GLA gene, resulting in reduced alfa-galactosidase A enzyme activity. This effect leads to the accumulation of glycosphingolipids, particularly globotriaosylceramide, in various tissues, including the heart, kidney, vasculature, smooth muscle, and peripheral nervous system. Hemizygous males are usually more severely affected than females, in whom random inactivation of an X chromosome may lead to variable phenotype. SUMMARY: Among the manifestations of FD, exercise intolerance is commonly diagnosed but often underestimated, even though it significantly limits quality of life, especially in young patients. This review primarily discusses the various pathophysiological mechanisms involved in exercise intolerance in FD patients, such as altered muscle composition, compromised cardiopulmonary framework, and peripheral neuropathy. Secondarily, it explores the potential effect of available therapy, including enzyme replacement therapy and chaperone therapy (migalastat), in reducing exercise intolerance while considering the potential impact of physical activity and exercise training as adjunctive treatments. CONCLUSION: Exercise intolerance has a major impact on the well-being of people with FD. Exercise training can play an important role in addition to drug therapy.
Subject(s)
Exercise , Fabry Disease , Fabry Disease/therapy , Fabry Disease/physiopathology , Humans , Exercise/physiology , Enzyme Replacement Therapy , Exercise Tolerance , MaleSubject(s)
Arthralgia/etiology , Cerebral Cortex/pathology , Diffusion Magnetic Resonance Imaging , Heart Atria , Heart Neoplasms/diagnosis , Image Enhancement , Image Processing, Computer-Assisted , Imaging, Three-Dimensional , Ischemic Attack, Transient/etiology , Magnetic Resonance Imaging , Myxoma/diagnosis , Parapsoriasis/etiology , Adult , Diagnosis, Differential , Echocardiography , Female , Heart Atria/pathology , Humans , Ischemic Attack, Transient/diagnosisABSTRACT
BACKGROUND: In the absence of confounding electrocardiographic features, a prominent R wave in leads V1-V2 reflects a lateral myocardial infarction (MI). We hypothesized that repolarization abnormalities in V1-V2 could also reflect a lateral MI. METHODS: We retrospectively selected a group of 57 patients with a recent or previous first Q-wave MI involving left ventricular (LV) inferior and/or lateral wall at contrast-enhanced cardiac magnetic resonance (CMR). The location and extent of the MI at CMR were compared with electrocardiographic features. RESULTS: The infarction was located in the inferior wall in 12 patients (21%), in the lateral wall in 8 (14%), and in both walls in 37 patients (65%). Infarct size corresponded to 16.8 (SD 9.0%) of LV myocardium. Infarct extent in the inferior and lateral wall (8.3%, SD 7.2% vs. 8.4%, SD 7.5% of LV myocardium) did not differ significantly. Using multiple linear regression analysis, inferior Q-waves and inferior negative T waves were directly associated with infarct extent in the inferior wall (p = 0.014 and p = 0.010, respectively). A prominent R wave in V1 and a prominent anterior T wave (expressed by the T wave amplitude in V2 minus its amplitude in V6) were directly associated with MI extent in the lateral wall (p = 0.008 and p = 0.018), while inferior negative T waves were negatively associated (p = 0.006). CONCLUSIONS: In patients with MI of the inferior and/or lateral wall, a prominent T wave in V2 with respect to V6 reflects greater infarct extent in the lateral wall.
Subject(s)
Electrocardiography/methods , Magnetic Resonance Imaging, Cine/methods , Multimodal Imaging/methods , Myocardial Infarction/diagnosis , Radiographic Image Enhancement , Aged , Cohort Studies , Female , Humans , Inferior Wall Myocardial Infarction/diagnosis , Male , Middle Aged , Retrospective Studies , Severity of Illness Index , Statistics, NonparametricABSTRACT
Intramyocardial fat can be observed in different pathologic processes including arrhythmogenic right ventricular cardiomyopathy (ARVC) and in old myocardial infarction (OMI) In SSFP images, fat is hyperintense and surrounded by a black boundary, called "Indian Ink" artifact that is generated when fat and water coexist in the same voxel. Aim of this study was to compare the SSFP with the conventional FSE and STIR (FSE/STIR) method for the detection of LV intramyocardial fat. Fifty-four consecutive patients with OMI (>1,000 days) and 69 patients with a diagnosis of ARVC underwent magnetic resonance. LV fat was detected in 29 patients (53.7%) in SSFP images and in 28 patients (51.9%) in FSE/STIR images. At Bland- Altman plot a close agreement was found between the extent of fat measured in SSFP images and in FSE images. However, a slight systematic overestimation, was found for the fat quantification in the SSFP images. In the ARVC group, both FSE/STIR and SSFP images evidenced fat infiltration in LV myocardium in 11 patients (15.9%) without any mismatch. SSFP had 100% sensitivity and 98.8% of specificity to detect LV intramyocardial fat in ARVC and in ischemic heart disease. SSFP sequence with TR/TE = 2 is capable in identifying and quantifying the presence of fat tissue within the LV myocardium in patients with previous myocardial infarction and ARVC.