Search results for "cardiomyopathy"
showing 2 items of 242 documents
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
2009
In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the delta-sarcoglycan gene and a second delta-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. In four heterozygous carriers for the mutation, aged 3-64 years, a second sequence variant in exon 6 (p.S151A) of the delta-sarcoglycan gene was detected on the other allele. This second missense change had previously been repo…
Intravenous iron therapy in patients with heart failure. A double-edged sword
2013
We read with interest the article of Beck-da-Silva et al., who recently concluded that intravenous (IV) iron seems to be superior over oral supplementation for improving functional capacity of heart failure patients [1]. Irrespective of the study design, involving comparison of functional outcomes between two different means of iron supplementation, we raise some clinical issues about the rationale underlying this investigation. According to the data published by Beck-da-Silva et al., the modest number of patients (n = 23) enrolled in this multicenter investigation had moderate anemia (i.e., hemoglobin concentration comprised between 90 and 120 g/L) but no evidence of iron deficiency, which…