Abstract | BACKGROUND: METHODS: Here, we report the first description of the structural and molecular pathology of the heart in Carvajal syndrome. We characterized gross and microscopic pathology and identified changes in expression and distribution of intercalated disk and intermediate filament proteins in ventricular myocardium. RESULTS: We identified a unique cardiomyopathy characterized by ventricular hypertrophy and dilatation, focal ventricular aneurysms, and distinct ultrastructural abnormalities of intercalated disks, but no evidence of fibrofatty infiltration or replacement of myocardium. We also observed markedly decreased amounts of specific immunoreactive signal for desmoplakin, plakoglobin, and the gap junction protein, connexin43, at intercalated disks. The intermediate filament protein, desmin, which is known to bind desmoplakin, showed a normal intracellular pattern of distribution but failed to localize at intercalated disks. CONCLUSIONS:
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Authors | Starr R Kaplan, Joseph J Gard, Luis Carvajal-Huerta, Juan C Ruiz-Cabezas, Gaetano Thiene, Jeffrey E Saffitz |
Journal | Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
(Cardiovasc Pathol)
2004 Jan-Feb
Vol. 13
Issue 1
Pg. 26-32
ISSN: 1054-8807 [Print] United States |
PMID | 14761782
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Cytoskeletal Proteins
- DSP protein, human
- Desmoplakins
- gamma Catenin
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Topics |
- Arrhythmogenic Right Ventricular Dysplasia
(pathology)
- Cardiomegaly
(pathology)
- Child
- Cytoskeletal Proteins
(genetics, metabolism)
- Desmoplakins
- Female
- Fibrosis
(pathology)
- Humans
- Immunohistochemistry
- Mutation
- gamma Catenin
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