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Rare Diseases: The definition of a rare disease varies by region, but it is generally defined by a low prevalence rate: In the United States, a disease is considered rare if it affects fewer than 200,000 people. In the European Union and United Kingdom, the definition is fewer than 1 in 2,000 people. Key characteristics include: * Prevalence is contextual: A disease might be rare in one region but common in another. * Diverse causes: Most (about 80%) have a genetic origin, but others can be caus
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Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Definition: A genetic cardiomyopathy caused by fibrofatty replacement of the right ventricular myocardium, leading to RV dilation, regional akinesia/dyskinesia, ventricular arrhythmias, and risk of sudden cardiac death. Genetics: • Mostly desmosomal mutations — PKP2 (most common), DSG2, DSC2, DSP, JUP • Autosomal dominant with variable penetrance. • Sometimes associated with exercise-induced progression. --- Pathology Loss of desmosomal adhe
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