Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis

Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis

Background: The Val30Met (V30M) and Val122Ile (V122I) transthyretin (TTR) mutations often beget hereditary amyloid transthyretin amyloidosis (hATTR). Since symptoms are progressively debilitating and potentially fatal if untreated, low survival rates result from late diagnoses of hATTR patients. Thi...

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Bibliographic Details
Main Authors: Sameer U. Kini, Ha My Thi Vy, Madhav Subramanian, Parasuram M. Krishnamoorthy, Son Q. Duong, Ghislain Rocheleau, Jagat Narula, Ron Do, Girish N. Nadkarni
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:International Journal of Cardiology: Heart & Vasculature
Subjects:
Heart failure
Symptom onset
Phenome-Wide Association Study (PheWAS)
Echocardiogram
Inflammatory markers
African American
Online Access:http://www.sciencedirect.com/science/article/pii/S2352906725000661
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