Word: arvc
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Dates: during 2009-2009
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Often the first and only manifestation of the disease is when an individual “drops dead,” only to be diagnosed with ARVC at the autopsy, Saffitz said...
...diagnostic test consists of obtaining a sample of tissue from a heart biopsy and then looking for a specific protein that the researchers found exists in smaller quantities in patients with ARVC, said Angeliki Asimaki, the study’s lead author and a research fellow at the Medical School...
Most of the mutations that cause ARVC are in genes encoding components of a type of cell junctions called “desmosomes,” which are particularly abundant in tissues that experience great mechanical force, such as the heart...
...researchers found that every sample from a patient with ARVC had less plakoglobin and that in other types of heart disease plakoglobin was normal...
...hoping it may lead not only to diagnosis of ARVC but also treatment in the near future,” said Shiva P. Gautam, one of the authors and an associate professor at the Medical School...