Dr. Witteles, a cardiologist and co-director of the Stanford Amyloid Center, discusses genetic testing, sequencing the TTR gene, and clarifies the confusing mutation nomenclature. He details the most common of the more than 145 known hereditary mutations, the prevalence of cardiomyopathy versus neuropathy, and references studies around diagnostic factors.
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Expert Insights: Unraveling the Lineage: The Genetic Basis of Familial ATTR Cardiomyopathy
November 09, 2023