Figure - available from: Case Reports in Cardiology
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(a) Electrocardiogram: atrial fibrillation and left bundle branch block. (b) Two-dimensional echocardiography (parasternal long-axis view): hyperechogenic and hypertrophic interventricular septum; after mitral valve repair.
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Background
Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines of presentation, (c) ge...
Citations
... Generally, cardiac symptoms have been reported with a higher prevalence in males than in females, increasing exponentially with age and disease progression for both genders [32]. Although cardiomyopathy is commonly asymptomatic during the early stage of AFD [31,32,34], index presentation as cardiac symptoms arises in almost 10% of patients. Otherwise, more than 60% experience HF, arrhythmias, angina, and syncope during the natural course of the disease [18,31,32]. ...
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A). This mutation results in a deficiency or absence of α-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic “red flags” is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac “red flags” that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.
... In female patients, the progression toward hypertrophy is prolonged, whereas the development of fibrosis and regional functional abnormalities progresses simultaneously. However, in males, LVH and concomitant reduction in longitudinal function appear in adolescence and both two processes lead to replacement fibrosis [17,18]. ...
Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α -galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout the body, leading to major organ failure and premature death. Cardiac involvement includes left ventricular hypertrophy, arrhythmia, endothelial dysfunction at vascular wall, and cardiomyopathy. The diagnosis of FD can be difficult and there is often a long lag time between symptoms and diagnosis. Here, we present a case of a 50-year-old woman with typical Fabry disease who showed serial electrocardiographic and echocardiographic changes over 17 years prior to diagnosis with Fabry disease.
