Researchers use skin cells from patients with an inherited heart condition to recreate the adult-onset disease in a laboratory dish—producing the first maturation-based disease model for testing new therapies.
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(Medical Xpress) -- Johns Hopkins experts in arrhythmogenic right ventricular dysplasia (ARVD) have defined a set of criteria that could be used to assess a patient’s need for an implanted defibrillator to prevent sudden ...
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Hair follicle keratinocytes offer a simple and accessible route to generate patient-specific induced pluripotent stem cells, iPSCs, with minimum inconvenience for the patients, shows study presented at the ESC Congress 2011 ...
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Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is an inherited heart disease.
ARVD is caused by genetic defects of the parts of heart muscle (also called myocardium or cardiac muscle) known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations.
The disease is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
ARVD is often found in association with diffuse palmoplantar keratoderma, and woolly hair, because their genes are nearby and often inherited together :513
ARVC/D is an important cause of ventricular arrhythmias in children and young adults. It is seen predominantly in males, and 30-50% of cases have a familial distribution.
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