Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del

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• 作者：Agnieszka Madej-Pilarczyk ; Adam Niezgoda ; Magdalena Janus…
• 关键词：LMNA gene ; Lamin A/C ; Laminopathy ; Limb ; girdle muscular dystrophy ; Cardiomyopathy
• 刊名：Journal of Applied Genetics
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：58
• 期：1
• 页码：87-91
• 全文大小：1040KB
• 刊物主题：Plant Genetics & Genomics; Human Genetics; Animal Genetics and Genomics; Microbial Genetics and Genomics;
• 出版者：Springer Berlin Heidelberg
• ISSN：2190-3883
• 卷排序：58

文摘

Laminopathies, a group of heterogeneous disorders associated with lamin A/C gene (LMNA) mutations, encompass a wide spectrum of clinical phenotypes, which may present as separate disease or as overlapping syndromes. We describe a 35-year-old female in whom a novel sporadic heterozygous mutation c.1001_1003delGCC (p.Ser334del) of the LMNA gene was found. The patient presented with overlapping syndrome of heart failure secondary to dilated cardiomyopathy, limb-girdle dystrophy and partial lipodystrophy. Endomyocardial biopsy revealed strong up-regulation of HLA classes I and II antigens on microvessels and induction of the class I antigens on cardiomyocytes. On muscle biopsy, a wide range of fiber sizes and small clusters of inflammatory infiltrations were found. In the rapid progression of heart failure with arrhythmias or conduction defect, accompanied with muscle atrophy and lipodystrophy, the genetic disease should be taken into consideration. In addition, undefined inflammatory response and fibrosis in the heart or skeletal muscle might further justify screening of the lamin A/C gene.