GLYCOGEN STORAGE DISEASE INDUCED RESTRICTIVE CARDIOMYOPATHY
نویسندگان
چکیده
منابع مشابه
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might ...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
متن کامل[Glycogen storage disease].
The glycogen storage diseases (GSD) or glycogenoses are a heterogenous group of inborn errors of carbohydrate metabolism that lead to abnormal concentrations or structure of glycogen. Several well defined disorders of glycogen metabolism, have been described based on the identified enzymatic defects or sometimes the distinctive features(l). We wish to report our experience with one such case of...
متن کاملPompe's Glycogen Storage Disease
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2015
ISSN: 0735-1097
DOI: 10.1016/s0735-1097(15)60609-x