Low Prevalence of Clinically Apparent Cardiac Amyloidosis Among Carriers of Transthyretin V122I Variant in a Large Electronic Medical Record

Transthyretin (TTR) gene mutations are the most common cause of hereditary amyloidosis. Valine replaced by isoleucine in position 122 (V122I) variant is common, particularly in the black population. V122I carriers have increased risk for developing cardiac amyloidosis. Despite a relatively high prevalence, the penetrance of V122I is not firmly established. This study sought to determine the prevalence of clinically apparent cardiac amyloidosis among carriers of the TTR V122I variant.

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Now Dr. Jack Straw is in charge of the website, and organizes it so that medical care is available to everyone. In addition, he is an active member of the medical community, regularly attending international conferences and sharing his experience and knowledge. Dr. Straw is not only a medical professional and website manager, but also a loving husband and father of his beautiful children.
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