European Heart Journal Advance Access originally published online on June 7, 2005
European Heart Journal 2005 26(16):1582-1584; doi:10.1093/eurheartj/ehi343
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© The European Society of Cardiology 2005. All rights reserved. For Permissions, please e-mail: journals.permissions@oupjournals.org
Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype–phenotype studies
Cardiology In The Young, The Heart Hospital, University College London Hospitals Trust, 16–18 Westmoreland Street, London W1G 8PH, UK
* Corresponding author. Tel: +44 020 7573 8841; fax: +44 020 7573 8838. E-mail address: william.mckenna@uclh.org
This editorial refers to ‘Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations’
by B. Bauce et al., on page 1666
| The first 150 words of the full text of this article appear below. |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in ventricular arrhythmia and sudden death. Myocyte loss with fibrofatty replacement is the typical pathological finding, with inflammatory infiltrates in up to 67% of cases.1 Insight into the pathogenesis of ARVC awaited identification of the first disease-causing gene, plakoglobin, in a recessive variant of ARVC known as Naxos disease.2 Naxos disease is distinguished from the more common autosomal dominant disease form by the presence of palmoplantar keratoderma and woolly hair in all genetically affected individuals.
Plakoglobin is a key component of desmosomes, the specialized intercellular junctions of cardiac and epithelial tissues. Desmosomes provide mechanical coupling between the intermediate filaments and the cytoplasmic membranes of adjacent cells. Tissue exposed to shear or frictional stress is dependent on the strength of this supporting network. A defect in a major desmosomal component may compromise its adhesive function, pre-disposing to
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- Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations
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EHJ 2005 26: 1666-1675.[Abstract] [Full Text]
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