geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Arrhythmogenic right ventricular cardiomyopathy: new insights into disease mechanisms and diagnosis


, : Arrhythmogenic right ventricular cardiomyopathy: new insights into disease mechanisms and diagnosis. Journal of Investigative Medicine 57(8): 861-864

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary heart muscle disorder characterized by the early occurrence of serious tachyarrhythmias often out of proportion to the extent of structural changes and contractile derangement. Approximately 40% of patients with ARVC have one or more mutations in genes encoding proteins in desmosomes, intercellular adhesion junctions which, in cardiac myocytes, reside within intercalated disks. Some desmosomal proteins fulfill roles both as structural proteins in cell-cell adhesion junctions and as nuclear signaling molecules. It has been proposed that mutations in desmosomal proteins implicated in ARVC may perturb the normal balance of protein in junctions and the cytosol which, in turn, could promote dysregulated gene expression circumventing the normal controls of Wnt signaling pathways. This review highlights recent advances in understanding the pathogenesis of ARVC and presents evidence, suggesting that the disease is caused by a combination of altered cellular biomechanical behavior and altered signaling.

US$19.90

PMID: 19952894

DOI: 10.2310/JIM.0b013e3181c5e631


Other references

Akesson, E.; Coraddu, F.; Marrosu, M.Giovanna.; Massacesi, L.; Hensiek, A.; Harbo, H.Flinstad.; Oturai, A.; Trojano, M.; Momigliano-Richiardi, P.; Cocco, E.; Murru, R.; Hillert, J.; Compston, A.; Sawcer, S., 2003: Refining the linkage analysis on chromosome 10 in 449 sib-pairs with multiple sclerosis. Genome-wide screens for linkage in multiplex families with multiple sclerosis (MS) from United Kingdom, Sardinia, Italy and the Nordic countries (Denmark, Finland, Norway and Sweden) have each shown suggestive or potential linkage on chromosome 10...

Essner R.; Economou J.S.; Rhoades K.; Mcbride W.; Morton D.L., 1989: Modulation of tumor necrosis factor and interleukin 1 gene expression effects of prostaglandins leukotrienes and cyclic nucleotides. Proceedings of the American Association for Cancer Research Annual Meeting 30: 329

Dowsett, R.; Harrison, D.; Granjon, L., 1991: Bats (Chiroptera) from the Mayombe and lower Kouilou (with a checklist for Congo). Tauraco Research Report: 251-263 (4)

Bernstein, M., 2003: Surgical teaching: how should neurosurgeons handle the conflict of duty to today's patients with the duty to tomorrow's?. The author examines the problem of tension in neurosurgical teaching between the duty to train residents by providing various levels of unsupervised surgery and the duty to patient care. The duty to train the residents also translates into ensurin...

Pypker, T.; Unsworth, M.; Lamb, B.A.lwine, E.E.burg, S.S.lzman, E.M.x, A.; Bond, B., 2007: Cold air drainage in a forested valley: Investigating the feasibility of monitoring ecosystem metabolism. Our objectives were to: characterize spatial and temporal variation in wind speed, direction and air temperature within a steeply sloping 96 ha forested watershed in the Oregon Cascade Mountains; assess the area contributing to advection in cold...

POTTIER.C.; de BURES.I.; D.C.UEDIC.H., 1950: Episodic anxiety and mental confusion in the course of tetraethylthiouram disulfide therapy. Annales Medico-Psychologiques 108(2 4): 512-518

Buzzelli, C.A., 1992: Popular and rejected children's social reasoning: linking social status and social knowledge. The relationship between children's social status/sex and their moral judgements was examined. Sixty-four second- and third-grade children (33 boys, 31 girls) who were identified as popular or rejected by peer sociometric measures were shown...

Canals, G.; Johnson, K., 2000: A new species of Angulopis Lycaenidae, Eumaeini from relict coastal forest in east-central Argentina. Taxonomic Report of the International Lepidoptera Survey. 15 July; 23: 1-5

Chasan, R., 1995: Victorins secret. Plant cell 7(4): 385-387

Baylis, Chris, 2006: Nitric oxide deficiency in chronic renal disease. There is clear evidence that chronic inhibition of nitric oxide synthase (NOS) in animals causes hypertension and also leads to progressive kidney damage. There is also evidence that nitric oxide (NO) deficiency occurs in man with chronic kidney d...