Familial dilated cardiomyopathy with a novel LMNA mutation (p.R429C): a case report

2020 ◽  
Vol 30 (10) ◽  
pp. 1544-1546
Author(s):  
Kun Li ◽  
Lanting Zhao ◽  
Ping Zhang
Keyword(s):  
Skeletal Muscle ◽  
Case Report ◽  
Dilated Cardiomyopathy ◽  
Metabolic Disorders ◽  
Wide Spectrum ◽  
Muscle Disease ◽  
Imaging Features ◽  
Disease Phenotypes ◽  
Familial Dilated Cardiomyopathy ◽  
Lmna Mutation

AbstractLMNA mutations cause a variety of inherited diseases referred to as laminopathies which are associated with a wide spectrum of disease phenotypes, ranging from skeletal muscle disease, pre-mature ageing, metabolic disorders, and cardiac abnormalities. We present a case of a 14-year-old boy with dilated cardiomyopathy induced by the LMNA mutation (p. R429C) and described its electrocardiogram and imaging features.

scholarly journals A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report

2010 ◽  
Vol 8 (1) ◽  
Author(s):  
Nicoletta Botto ◽  
Simona Vittorini ◽  
Maria Giovanna Colombo ◽  
Andrea Biagini ◽  
Umberto Paradossi ◽  
...  
Keyword(s):  
Case Report ◽  
Dilated Cardiomyopathy ◽  
Hot Spot ◽  
Familial Dilated Cardiomyopathy ◽  
Lmna Mutation

scholarly journals Isolated Vastus Intermedius Avulsion Injury: A Case Report with Imaging Spectrum of this Rare Incidence

2019 ◽  
Vol 9 ◽  
pp. 54
Author(s):  
Urszula Wegner ◽  
Chitrangada Singh
Keyword(s):  
Case Report ◽  
Functional Disability ◽  
Wide Spectrum ◽  
Imaging Features ◽  
Conventional Imaging ◽  
Resonance Imaging ◽  
First Line ◽  
Plain Radiographs ◽  
Avulsion Injury ◽  
Vastus Intermedius

Isolated mid-tendon vastus intermedius avulsion injuries are rare, painful, and overuse-related changes with a wide spectrum of epidemiology often demonstrating an exceptional spectrum of imaging features, especially on conventional radiographs. Although they can be easily diagnosed on magnetic resonance imaging, it is pertinent to identify the features of conventional imaging as that forms the first line of investigation. Our case report emphasizes the significance of identifying early signs of vastus intermedius avulsions on plain radiographs which can avoid neglect and functional disability. Timely identification of conventional imaging can avoid months of excruciating pain and streamline the further course of the treatment.

scholarly journals Natural history of familial dilated cardiomyopathy: the heart muscle disease registry of trieste

2002 ◽  
Vol 39 ◽  
pp. 149
Author(s):  
Andrea Di Lenarda ◽  
Elisa Carniel ◽  
Gastone Sabbadini ◽  
Mauro Driussi ◽  
Serena Rakar ◽  
...  
Keyword(s):  
Natural History ◽  
Dilated Cardiomyopathy ◽  
Heart Muscle ◽  
Muscle Disease ◽  
Disease Registry ◽  
Familial Dilated Cardiomyopathy ◽  
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