Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up.
نویسندگان
چکیده
Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) is rare and usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case of a patient followed regularly for 25 years with a diagnosis of familial HCM and no identified sarcomeric mutations. Next-generation sequencing analysis identified a novel pathogenic mutation in the GLA gene, leading to a diagnosis of previously unknown multisystemic AFD, with consequent implications for the patient's treatment and prognosis and familial screening.
منابع مشابه
Coexistant of Fabry Disease and IgA Glomerulonephritis in a 39 year old male
Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor of Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...
متن کاملAnderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy.
AIMS Anderson-Fabry disease affects various organ systems due to glycosphingolipid accumulation. Enzyme replacement therapy (ERT) has been reported to decrease left ventricular wall thickening (LVWT) and to improve diastolic dysfunction. METHODS AND RESULTS This prospective study included 29 patients (patients; mean age 37 +/- 13 years) with genetically, enzymatically and/or biopsy-proven And...
متن کاملبیماری آندرسون ـ فابری: گزارش یک مورد
Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as ...
متن کاملMultiple myocardial infarctions in a 35 year-old woman with POEMS syndrome.
cement therapy in Fabry’s disease. N Engl J Med 2001;345:9–16. 17. Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, Ertl G, Knoll A, Wanner C, Strotmann JM. Improvement in cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 2003;108:1299–1301. 18. Hughes DA, Eliott PM, Shah J, Zuckerman J, Co...
متن کاملLong-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications
OBJECTIVE The long-term effects of enzyme-replacement therapy (ERT) in Fabry disease are unknown. Thus, the aim of this study was to determine whether ERT in patients with advanced Fabry disease affects progression towards 'hard' clinical end-points in comparison with the natural course of the disease. METHODS A total of 40 patients with genetically proven Fabry disease (mean age 40 ± 9 years...
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ورودعنوان ژورنال:
- Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology
دوره 33 4 شماره
صفحات -
تاریخ انتشار 2014