Arrhythmogenic Right Ventricular Dysplasia
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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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.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
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