Title |
Genetics of and pathogenic mechanisms in arrhythmogenic right ventricular cardiomyopathy
|
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Published in |
Biophysical Reviews, July 2018
|
DOI | 10.1007/s12551-018-0437-0 |
Pubmed ID | |
Authors |
Anita Kiran Vimalanathan, Elisabeth Ehler, Katja Gehmlich |
Abstract |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease, associated with a high risk of sudden cardiac death. ARVC has been termed a 'disease of the desmosome' based on the fact that in many cases, it is caused by mutations in genes encoding desmosomal proteins at the specialised intercellular junctions between cardiomyocytes, the intercalated discs. Desmosomes maintain the structural integrity of the ventricular myocardium and are also implicated in signal transduction pathways. Mutated desmosomal proteins are thought to cause detachment of cardiac myocytes by the loss of cellular adhesions and also affect signalling pathways, leading to cell death and substitution by fibrofatty adipocytic tissue. However, mutations in desmosomal proteins are not the sole cause for ARVC as mutations in non-desmosomal genes were also implicated in its pathogenesis. This review will consider the pathology, genetic basis and mechanisms of pathogenesis for ARVC. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Spain | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Practitioners (doctors, other healthcare professionals) | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 68 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 9 | 13% |
Student > Ph. D. Student | 8 | 12% |
Student > Master | 6 | 9% |
Student > Bachelor | 5 | 7% |
Student > Postgraduate | 5 | 7% |
Other | 12 | 18% |
Unknown | 23 | 34% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 17 | 25% |
Biochemistry, Genetics and Molecular Biology | 10 | 15% |
Agricultural and Biological Sciences | 4 | 6% |
Engineering | 3 | 4% |
Neuroscience | 3 | 4% |
Other | 6 | 9% |
Unknown | 25 | 37% |