A mutation called A143T in the alpha-galactosidase A (GLA) gene is likely a cause of type 2 Fabry disease that manifests predominantly as heart problems, a study suggests. The study, “Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene,” was published in the journal…
Inflammation of the heart, known as myocarditis, is found in more than half of patients with Fabry disease cardiomyopathy — a consequence of fat molecule accumulation in the cells of the heart — and is associated with disease severity, a study has found. Myocarditis may also limit the impact…
Timely diagnosis of Fabry disease can prevent irreversible structural changes in the heart, a study reports. In their research, “Echocardiographic Assessment of Patients with Fabry Disease,” a Canadian team reviewed the characteristics of heart abnormalities associated with Fabry disease. Their article appeared in the Journal of…
Measuring left heart chamber size and functioning could help doctors do a better job of tracking the progression of Fabry disease in people who also have a heart muscle disorder, a study reports. The research, “Comparison of left atrial size and function in hypertrophic cardiomyopathy and in Fabry disease…
Two independent studies published in the journal Molecular Genetics and Metabolism and presented at the 14th Annual WORLDSymposium in San Diego, California, have discovered possible biomarkers to diagnose heart and kidney disorders in Fabry disease. One study, “Collagen type I synthesis biomarkers predict the progression of Fabry…
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